Variant report

Variant	esv3413639
Chromosome Location	chr17:17695077-17698475
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:488)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr17:17696355-17696370	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr17:17696436-17696484	GM19240	blood:	n/a	n/a
3	CTCF	chr17:17696383-17696495	GM12891	blood:	n/a	n/a
4	CTCF	chr17:17696400-17696550	HBMEC	blood vessel:	n/a	n/a
5	CTCF	chr17:17695460-17695610	SK-N-SH_RA	brain:	n/a	chr17:17695475-17695488
6	CTCF	chr17:17696434-17696519	GM19239	blood:	n/a	n/a
7	CTCF	chr17:17696428-17696512	NHEK	skin:	n/a	n/a
8	CTCF	chr17:17696340-17696490	AG04449	skin:	n/a	n/a
9	CTCF	chr17:17696436-17696456	GM19238	blood:	n/a	n/a
10	CTCF	chr17:17696422-17696428	GM19240	blood:	n/a	n/a
11	CTCF	chr17:17696404-17696536	Lung_OC	lung:	n/a	n/a
12	CTCF	chr17:17695640-17695790	SK-N-SH_RA	brain:	n/a	n/a
13	CTCF	chr17:17696420-17696570	AG04449	skin:	n/a	n/a
14	CTCF	chr17:17696368-17696546	Spleen_OC	spleen:	n/a	n/a
15	CTCF	chr17:17695340-17695490	BE2_C	brain:	n/a	chr17:17695475-17695488
16	CTCF	chr17:17695180-17695330	SK-N-SH_RA	brain:	n/a	chr17:17695205-17695218
17	CTCF	chr17:17696445-17696529	Pancreas_OC	pancreas:	n/a	n/a
18	CTCF	chr17:17696480-17696630	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr17:17696520-17696670	HRPEpiC	eye:	n/a	n/a
20	CTCF	chr17:17695480-17695630	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr17:17696393-17696500	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr17:17696373-17696381	GM12891	blood:	n/a	n/a
23	EGR1	chr17:17695963-17696212	GM12878	blood:	n/a	chr17:17696117-17696132
24	EGR1	chr17:17696025-17696144	GM12878	blood:	n/a	chr17:17696117-17696132
25	EP300	chr17:17695281-17696192	SK-N-SH_RA	brain:	n/a	chr17:17696145-17696154 chr17:17696089-17696105 chr17:17696090-17696106
26	EP300	chr17:17695245-17695972	SK-N-SH_RA	brain:	n/a	n/a
27	EP300	chr17:17691959-17696807	SK-N-SH	brain:	n/a	chr17:17693987-17693996 chr17:17696145-17696154 chr17:17696089-17696105 chr17:17696090-17696106
28	GABPA	chr17:17694837-17695233	H1-hESC	embryonic stem cell:	n/a	n/a
29	GATA2	chr17:17695196-17695781	SH-SY5Y	brain:	n/a	n/a
30	MAZ	chr17:17695809-17696347	K562	blood:	n/a	chr17:17695890-17695900
31	MAZ	chr17:17695786-17696585	IMR90	lung:	n/a	chr17:17695890-17695900 chr17:17695797-17695807
32	MXI1	chr17:17691969-17696621	SK-N-SH	brain:	n/a	chr17:17692252-17692267
33	MYC	chr17:17695616-17695731	MCF-7	breast:	n/a	n/a
34	POLR2A	chr17:17695660-17695749	MCF-7	breast:	n/a	n/a
35	POLR2A	chr17:17695233-17696708	H1-neurons	neurons:	n/a	n/a
36	POLR2A	chr17:17697450-17697480	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr17:17695249-17695394	MCF-7	breast:	n/a	n/a
38	POLR2A	chr17:17697572-17697610	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr17:17695523-17695718	K562	blood:	n/a	n/a
40	POLR2A	chr17:17696071-17696093	MCF-7	breast:	n/a	n/a
41	POLR2A	chr17:17695653-17695729	MCF-7	breast:	n/a	n/a
42	POLR2A	chr17:17697780-17697790	MCF-7	breast:	n/a	n/a
43	POLR2A	chr17:17697804-17697834	MCF-7	breast:	n/a	n/a
44	POLR2A	chr17:17695996-17696021	MCF-7	breast:	n/a	n/a
45	POLR2A	chr17:17697479-17697627	HepG2	liver:	n/a	n/a
46	POLR2A	chr17:17695750-17695841	MCF-7	breast:	n/a	n/a
47	POLR2A	chr17:17697327-17697342	MCF-7	breast:	n/a	n/a
48	POLR2A	chr17:17696042-17696044	MCF-7	breast:	n/a	n/a
49	POLR2A	chr17:17696310-17696344	MCF-7	breast:	n/a	n/a
50	POLR2A	chr17:17696120-17696168	HUVEC	blood vessel:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:17698048-17698098	NHBE	bronchial:	n/a
2	chr17:17697738-17697788	HUVEC	blood vessel:	n/a
3	chr17:17697738-17697788	HRPEpiC	eye:	n/a
4	chr17:17697841-17697891	AG10803	skin:	n/a
5	chr17:17698048-17698098	T-47D	breast:	n/a
6	chr17:17697732-17697782	AG09319	gingival:	n/a
7	chr17:17698048-17698098	AoSMC	blood vessel:	n/a
8	chr17:17698048-17698098	GM12891	blood:	n/a
9	chr17:17696392-17696442	IMR90	lung:	fetal
10	chr17:17695459-17695509	HCM	heart:	n/a
11	chr17:17696044-17696094	AG09319	gingival:	n/a
12	chr17:17695459-17695509	AoSMC	blood vessel:	n/a
13	chr17:17697738-17697788	HCT-116	colon:	n/a
14	chr17:17697732-17697782	HRPEpiC	eye:	n/a
15	chr17:17695459-17695509	A549	lung:	n/a
16	chr17:17697732-17697782	HCM	heart:	n/a
17	chr17:17697732-17697782	IMR90	lung:	fetal
18	chr17:17697841-17697891	Jurkat	blood:	n/a
19	chr17:17697464-17697514	NT2-D1	testis:	n/a
20	chr17:17696392-17696442	A549	lung:	n/a
21	chr17:17695459-17695509	SK-N-MC	brain:	n/a
22	chr17:17695459-17695509	PFSK-1	brain:	n/a
23	chr17:17697738-17697788	PANC-1	pancreas:	n/a
24	chr17:17696044-17696094	RPTEC	kidney:	n/a
25	chr17:17697732-17697782	LNCaP	prostate:	n/a
26	chr17:17696392-17696442	AG09309	skin:	n/a
27	chr17:17697738-17697788	GM12891	blood:	n/a
28	chr17:17696392-17696442	HEEpiC	esophagus:	n/a
29	chr17:17695459-17695509	CMK	blood:	n/a
30	chr17:17697464-17697514	HRPEpiC	eye:	n/a
31	chr17:17698048-17698098	PANC-1	pancreas:	n/a
32	chr17:17697464-17697514	SAEC	small airway:	n/a
33	chr17:17696392-17696442	AG04450	lung:	fetal
34	chr17:17696392-17696442	Hela-S3	cervix:	n/a
35	chr17:17695459-17695509	HEEpiC	esophagus:	n/a
36	chr17:17695459-17695509	HNPCEpiC	eye:	n/a
37	chr17:17696392-17696442	AoSMC	blood vessel:	n/a
38	chr17:17696044-17696094	ECC-1	luminal epithelium:	n/a
39	chr17:17698048-17698098	AG04449	skin:	fetal
40	chr17:17695459-17695509	SAEC	small airway:	n/a
41	chr17:17697738-17697788	ECC-1	luminal epithelium:	n/a
42	chr17:17696392-17696442	SKMC	muscle:	n/a
43	chr17:17696392-17696442	Hepatocyte	liver:	n/a
44	chr17:17696044-17696094	GM12892	blood:	n/a
45	chr17:17696044-17696094	HL-60	blood:	n/a
46	chr17:17697841-17697891	HEK293	kidney:	embryo
47	chr17:17696044-17696094	AG04450	lung:	fetal
48	chr17:17697738-17697788	NH-A	brain:	n/a
49	chr17:17697841-17697891	PrEC	prostate:	n/a
50	chr17:17696392-17696442	HRE	kidney:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17676883..17678568-chr17:17694374..17695879,2	MCF-7	breast:
2	chr17:17685392..17687636-chr17:17695212..17698181,2	MCF-7	breast:
3	chr17:17584846..17587033-chr17:17696013..17697749,2	MCF-7	breast:
4	chr17:17694613..17696155-chr17:17697570..17699301,2	MCF-7	breast:
5	chr17:17693638..17695676-chr17:17707217..17709070,2	K562	blood:
6	chr17:17693891..17695955-chr17:17698276..17701627,3	K562	blood:
7	chr17:17692301..17694002-chr17:17694176..17696091,2	MCF-7	breast:
8	chr17:17693130..17695676-chr17:17706574..17708717,2	K562	blood:
9	chr17:17694086..17695955-chr17:17698862..17701627,2	K562	blood:
10	chr17:17693891..17695955-chr17:17698276..17701627,3	K562	blood:
11	chr17:17696658..17699580-chr17:17711983..17715186,3	K562	blood:
12	chr17:17692722..17695616-chr17:17701573..17703949,2	MCF-7	breast:
13	chr17:17694613..17696155-chr17:17697570..17699301,2	MCF-7	breast:
14	chr17:17696023..17699277-chr17:17700100..17704638,4	K562	blood:
15	chr17:17695508..17697498-chr17:17739831..17741421,2	K562	blood:

No data

Variant related genes	Relation type
RAI1	TF binding region
RAI1	CpG island
ENSG00000072310	chromatin interactions
ENSG00000108557	chromatin interactions

Extended variants
information (count: 247 )
Associated
traits (count: 161 )

Variant overlapped rSNPs/rCNVs (count:247 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561619281	chr17:17695099-17695100	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs1883752	chr17:17695165-17695166	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs550498851	chr17:17695204-17695205	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs570223175	chr17:17695247-17695248	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs144025871	chr17:17695289-17695290	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs533720737	chr17:17695293-17695294	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs552274912	chr17:17695298-17695299	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs7213485	chr17:17695314-17695315	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs148672244	chr17:17695384-17695385	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs534594721	chr17:17695385-17695386	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs554308365	chr17:17695449-17695450	Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs568341066	chr17:17695460-17695461	Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs1737955	chr17:17695478-17695479	Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs536896585	chr17:17695481-17695482	Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs142219799	chr17:17695491-17695492	Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs576592334	chr17:17695492-17695493	Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs545623413	chr17:17695493-17695494	Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs372132378	chr17:17695543-17695544	Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs559181662	chr17:17695577-17695578	Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs1737956	chr17:17695581-17695582	Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs558612509	chr17:17695597-17695598	Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs2746020	chr17:17695612-17695613	Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs572121458	chr17:17695631-17695632	Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs572491051	chr17:17695642-17695643	Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs73981066	chr17:17695644-17695645	Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs561080717	chr17:17695650-17695651	Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs530116046	chr17:17695651-17695652	Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs541543477	chr17:17695684-17695685	Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs146285416	chr17:17695685-17695686	Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs564413412	chr17:17695696-17695697	Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs532729432	chr17:17695714-17695715	Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs533409804	chr17:17695757-17695758	Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs139052597	chr17:17695772-17695773	Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs528220701	chr17:17695792-17695793	Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs548267434	chr17:17695805-17695806	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs143990842	chr17:17695869-17695870	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs35034815	chr17:17695874-17695875	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs200324707	chr17:17695891-17695892	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs143217251	chr17:17695892-17695893	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs561461468	chr17:17695900-17695901	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs3840861	chr17:17695901-17695902	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs112628125	chr17:17695926-17695927	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs191002916	chr17:17695962-17695963	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs570449667	chr17:17696021-17696022	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs200112994	chr17:17696022-17696023	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs552941836	chr17:17696033-17696034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs572999636	chr17:17696078-17696079	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs34360301	chr17:17696089-17696090	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs34038060	chr17:17696128-17696129	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs35766033	chr17:17696132-17696133	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:161)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Acute myeloid leukemia	17237825	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastric cancer	18160780	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	20409316	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	22543975	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:402 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17685600-17695400	Weak transcription	Dnd41	blood
2	chr17:17687600-17695600	Weak transcription	Osteobl	bone
3	chr17:17687600-17696000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr17:17687600-17696400	Weak transcription	Aorta	Aorta
5	chr17:17687800-17696400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr17:17687800-17696600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr17:17688000-17696200	Enhancers	Fetal Muscle Leg	muscle
8	chr17:17688000-17697600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr17:17688000-17715000	Weak transcription	Small Intestine	intestine
10	chr17:17688200-17695400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr17:17688200-17697400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr17:17688600-17695200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr17:17688600-17714200	Weak transcription	NHDF-Ad	bronchial
14	chr17:17689000-17695200	Weak transcription	Primary T cells from cord blood	blood
15	chr17:17689000-17695400	Weak transcription	NHLF	lung
16	chr17:17689200-17695200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr17:17690000-17696800	Weak transcription	NHEK	skin
18	chr17:17690000-17697200	Weak transcription	HMEC	breast
19	chr17:17690000-17707200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr17:17690000-17711200	Weak transcription	Hela-S3	cervix
21	chr17:17690200-17695400	Weak transcription	K562	blood
22	chr17:17691000-17697200	Enhancers	Fetal Brain Male	brain
23	chr17:17691200-17695200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr17:17691200-17695200	Weak transcription	Esophagus	oesophagus
25	chr17:17692000-17695600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr17:17692200-17695400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr17:17692200-17695400	Enhancers	Brain Cingulate Gyrus	brain
28	chr17:17692200-17697200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr17:17692400-17696400	Enhancers	Right Ventricle	heart
30	chr17:17692400-17696400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr17:17692400-17696600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr17:17692400-17697000	Genic enhancers	Fetal Stomach	stomach
33	chr17:17692400-17697400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr17:17692600-17695800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr17:17692600-17696000	Enhancers	Fetal Intestine Large	intestine
36	chr17:17692600-17696200	Enhancers	Brain Anterior Caudate	brain
37	chr17:17692600-17697400	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr17:17692800-17695600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
39	chr17:17692800-17695600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
40	chr17:17692800-17695800	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr17:17692800-17695800	Enhancers	Duodenum Mucosa	Duodenum
42	chr17:17692800-17695800	Enhancers	Fetal Lung	lung
43	chr17:17692800-17696400	Enhancers	Adipose Nuclei	Adipose
44	chr17:17692800-17696400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr17:17692800-17696600	Enhancers	Fetal Muscle Trunk	muscle
46	chr17:17692800-17696600	Enhancers	Stomach Smooth Muscle	stomach
47	chr17:17692800-17696800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr17:17692800-17697200	Enhancers	Left Ventricle	heart
49	chr17:17692800-17697400	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr17:17692800-17697400	Enhancers	Skeletal Muscle Female	skeletal muscle

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