Variant report

Variant	esv3325368
Chromosome Location	chr17:45235562-45247410
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:218)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:218 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr17:45235405-45235833	K562	blood:	n/a	n/a
2	ATF3	chr17:45235420-45235783	K562	blood:	n/a	n/a
3	BACH1	chr17:45235402-45235840	K562	blood:	n/a	n/a
4	BACH1	chr17:45239305-45239316	K562	blood:	n/a	n/a
5	BHLHE40	chr17:45247205-45247577	K562	blood:	n/a	n/a
6	BRCA1	chr17:45247141-45247518	GM12878	blood:	n/a	n/a
7	BRCA1	chr17:45247204-45247519	Hela-S3	cervix:	n/a	n/a
8	BRCA1	chr17:45235405-45235836	Hela-S3	cervix:	n/a	n/a
9	BRCA1	chr17:45235407-45235836	GM12878	blood:	n/a	n/a
10	BRF2	chr17:45235420-45235825	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr17:45241995-45242218	HepG2	liver:	n/a	chr17:45242134-45242145
12	CEBPB	chr17:45235404-45235836	A549	lung:	n/a	n/a
13	CEBPB	chr17:45241994-45242217	IMR90	lung:	n/a	chr17:45242134-45242145
14	CEBPB	chr17:45235398-45235838	K562	blood:	n/a	n/a
15	CEBPB	chr17:45241983-45242217	A549	lung:	n/a	chr17:45242134-45242145
16	CEBPB	chr17:45247144-45247579	K562	blood:	n/a	n/a
17	CEBPB	chr17:45235399-45235840	HepG2	liver:	n/a	n/a
18	CEBPB	chr17:45242044-45242183	K562	blood:	n/a	chr17:45242134-45242145
19	CHD1	chr17:45235411-45235837	GM12878	blood:	n/a	n/a
20	CHD2	chr17:45235410-45235838	K562	blood:	n/a	n/a
21	CTCF	chr17:45235520-45235670	GM12869	blood:	n/a	n/a
22	CTCF	chr17:45235560-45235710	HL-60	blood:	n/a	n/a
23	CTCF	chr17:45235540-45235690	HA-sp	spinal cord:	n/a	n/a
24	CTCF	chr17:45235520-45235670	GM12870	blood:	n/a	n/a
25	CTCF	chr17:45247300-45247450	AG09309	skin:	n/a	n/a
26	CTCF	chr17:45235520-45235670	RPTEC	kidney:	n/a	n/a
27	CTCF	chr17:45235540-45235690	BE2_C	brain:	n/a	n/a
28	CTCF	chr17:45235500-45235650	K562	blood:	n/a	n/a
29	CTCF	chr17:45235540-45235690	HPAF	blood vessel:	n/a	n/a
30	CTCF	chr17:45235520-45235670	BE2_C	brain:	n/a	n/a
31	CTCF	chr17:45235560-45235710	GM12865	blood:	n/a	n/a
32	CTCF	chr17:45235500-45235650	GM12878	blood:	n/a	n/a
33	CTCF	chr17:45235580-45235730	HEEpiC	esophagus:	n/a	n/a
34	CTCF	chr17:45235500-45235650	AoAF	blood vessel:	n/a	n/a
35	CTCF	chr17:45235500-45235650	AG04449	skin:	n/a	n/a
36	CTCF	chr17:45235500-45235650	GM12865	blood:	n/a	n/a
37	CTCF	chr17:45235520-45235670	HVMF	connective:	n/a	n/a
38	CTCF	chr17:45235480-45235630	A549	lung:	n/a	n/a
39	CTCF	chr17:45235520-45235670	HCM	heart:	n/a	n/a
40	CTCF	chr17:45235560-45235710	RPTEC	kidney:	n/a	n/a
41	CTCF	chr17:45235520-45235670	NB4	blood:	n/a	n/a
42	CTCF	chr17:45235540-45235690	SAEC	small airway:	n/a	n/a
43	CTCF	chr17:45235520-45235670	NHDF-neo	bronchial:	n/a	n/a
44	CTCF	chr17:45235520-45235670	GM12866	blood:	n/a	n/a
45	CTCF	chr17:45247280-45247430	HRPEpiC	eye:	n/a	n/a
46	CTCF	chr17:45235580-45235730	GM12872	blood:	n/a	n/a
47	CTCF	chr17:45235500-45235650	HPF	lung:	n/a	n/a
48	CTCF	chr17:45235540-45235690	GM12864	blood:	n/a	n/a
49	CTCF	chr17:45235540-45235690	GM12870	blood:	n/a	n/a
50	CTCF	chr17:45235540-45235690	WI-38	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:45236833-45236883	K562	blood:	n/a
2	chr17:45236833-45236883	MCF10A-Er-Src	breast:	n/a
3	chr17:45236833-45236883	MCF-7	breast:	n/a
4	chr17:45236833-45236883	A549	lung:	n/a
5	chr17:45236833-45236883	U87	brain:	n/a
6	chr17:45236833-45236883	HEEpiC	esophagus:	n/a
7	chr17:45236833-45236883	H1-hESC	embryonic stem cell:	embryo
8	chr17:45236833-45236883	ovcar-3	ovarian:	n/a
9	chr17:45236833-45236883	SKMC	muscle:	n/a
10	chr17:45236833-45236883	GM06990	blood:	n/a
11	chr17:45236833-45236883	NH-A	brain:	n/a
12	chr17:45236833-45236883	HCF	heart:	n/a
13	chr17:45236833-45236883	NT2-D1	testis:	n/a
14	chr17:45236833-45236883	HCM	heart:	n/a
15	chr17:45236833-45236883	HEK293	kidney:	embryo
16	chr17:45236833-45236883	BE2_C	brain:	n/a
17	chr17:45236833-45236883	Hepatocyte	liver:	n/a
18	chr17:45236833-45236883	HRPEpiC	eye:	n/a
19	chr17:45236833-45236883	HUVEC	blood vessel:	n/a
20	chr17:45236833-45236883	NHDF-neo	bronchial:	n/a
21	chr17:45236833-45236883	HL-60	blood:	n/a
22	chr17:45236833-45236883	PANC-1	pancreas:	n/a
23	chr17:45236833-45236883	PFSK-1	brain:	n/a
24	chr17:45236833-45236883	NHBE	bronchial:	n/a
25	chr17:45236833-45236883	HCT-116	colon:	n/a
26	chr17:45236833-45236883	GM19239	blood:	n/a
27	chr17:45236833-45236883	SAEC	small airway:	n/a
28	chr17:45236833-45236883	Hela-S3	cervix:	n/a
29	chr17:45236833-45236883	GM12891	blood:	n/a
30	chr17:45236833-45236883	HRCEpiC	kidney:	n/a
31	chr17:45236833-45236883	ProgFib	skin:	n/a
32	chr17:45236833-45236883	HCPEpiC	choroid plexus:	n/a
33	chr17:45236833-45236883	HRE	kidney:	n/a
34	chr17:45236833-45236883	Caco-2	colon:	n/a
35	chr17:45236833-45236883	CMK	blood:	n/a
36	chr17:45236833-45236883	BJ	skin:	n/a
37	chr17:45236833-45236883	HIPEpiC	eye:	n/a
38	chr17:45236833-45236883	GM12878	blood:	n/a
39	chr17:45236833-45236883	RPTEC	kidney:	n/a
40	chr17:45236833-45236883	AG04450	lung:	fetal
41	chr17:45236833-45236883	SK-N-SH	brain:	n/a
42	chr17:45236833-45236883	AG09309	skin:	n/a
43	chr17:45236833-45236883	HNPCEpiC	eye:	n/a
44	chr17:45236833-45236883	IMR90	lung:	fetal
45	chr17:45236833-45236883	HMEC	breast:	n/a
46	chr17:45236833-45236883	AoSMC	blood vessel:	n/a
47	chr17:45236833-45236883	NB4	blood:	n/a
48	chr17:45236833-45236883	HPAEpiC	pulmonary alveolar:	n/a
49	chr17:45236833-45236883	AG10803	skin:	n/a
50	chr17:45236833-45236883	AG09319	gingival:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45229552..45231900-chr17:45241796..45244433,2	K562	blood:
2	chr17:45244585..45246962-chr17:45247878..45249835,2	K562	blood:
3	chr17:45235479..45238611-chr17:45239349..45243601,4	K562	blood:
4	chr17:45234199..45236994-chr17:45399820..45401734,2	MCF-7	breast:
5	chr17:45235479..45238611-chr17:45239349..45243601,4	K562	blood:
6	chr17:45240711..45243126-chr17:45243872..45245467,2	MCF-7	breast:
7	chr17:45234310..45237087-chr2:133018866..133020562,2	MCF-7	breast:
8	chr17:45247336..45250133-chr17:45265157..45267526,3	MCF-7	breast:
9	chr17:45240711..45243126-chr17:45243872..45245467,2	MCF-7	breast:
10	chr17:45232570..45235391-chr17:45239665..45241193,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPRML-4	chr17:45239089-45239430	ENSG00000262265.1
2	lnc-RPRML-4	chr17:45238441-45238499	ENSG00000262265.1

No data

Variant related genes	Relation type
ENSG00000262265	TF binding region
CDC27	TF binding region
ENSG00000239291	TF binding region
ENSG00000261872	TF binding region
ENSG00000262265	CpG island
CDC27	CpG island
ENSG00000239291	CpG island
ENSG00000261872	CpG island
ENSG00000004897	chromatin interactions
ENSG00000263293	chromatin interactions
ENSG00000239291	chromatin interactions
ENSG00000233786	chromatin interactions
ENSG00000178852	chromatin interactions
ENSG00000262265	chromatin interactions

Extended variants
information (count: 437 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:437 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200176916	chr17:45235566-45235567	ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs200592731	chr17:45235569-45235570	ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs147815063	chr17:45235570-45235571	ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs549270533	chr17:45235575-45235576	ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs76190542	chr17:45235583-45235584	ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs77467652	chr17:45235598-45235599	ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs74875648	chr17:45235616-45235617	ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs77320707	chr17:45235620-45235621	ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs79936417	chr17:45235635-45235636	ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs201519931	chr17:45235636-45235637	ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs74398156	chr17:45235653-45235654	ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs377249897	chr17:45235667-45235668	ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs77904232	chr17:45235671-45235672	ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs77034041	chr17:45235672-45235673	ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs182018838	chr17:45235732-45235733	ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs184963221	chr17:45235749-45235750	ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs551898740	chr17:45235776-45235777	ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs545079899	chr17:45235807-45235808	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs576567122	chr17:45235824-45235825	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs140968521	chr17:45235852-45235853	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs534159532	chr17:45235884-45235885	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs143085986	chr17:45235890-45235891	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs567665132	chr17:45235940-45235941	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs376030802	chr17:45235986-45235987	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs529836616	chr17:45235987-45235988	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs536503504	chr17:45236008-45236009	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs188950565	chr17:45236052-45236053	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs576558053	chr17:45236080-45236081	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs553732108	chr17:45236127-45236128	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs538886230	chr17:45236132-45236133	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs557410462	chr17:45236134-45236135	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs528020408	chr17:45236151-45236152	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs539956830	chr17:45236186-45236187	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs114808103	chr17:45236199-45236200	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs4968254	chr17:45236201-45236202	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs201627057	chr17:45236259-45236260	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs199907808	chr17:45236265-45236266	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs565575537	chr17:45236272-45236273	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs201230368	chr17:45236297-45236298	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs542556996	chr17:45236301-45236302	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs562844505	chr17:45236302-45236303	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs531516887	chr17:45236320-45236321	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs181601953	chr17:45236338-45236339	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs186331400	chr17:45236348-45236349	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs201967700	chr17:45236377-45236378	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs113893418	chr17:45236398-45236399	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs547878291	chr17:45236410-45236411	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs75187507	chr17:45236474-45236475	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs542951600	chr17:45236488-45236489	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs189749140	chr17:45236533-45236534	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:120)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17850661	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	17142309	CNVD
Breast cancer	16397240	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
Autism	22817714	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Frontotemporal lobar degeneration	19640594	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:711 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45231600-45236200	Weak transcription	Brain Germinal Matrix	brain
2	chr17:45234200-45235800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:45234200-45235800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr17:45234200-45235800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr17:45234200-45235800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr17:45234200-45235800	ZNF genes & repeats	Dnd41	blood
7	chr17:45234200-45235800	ZNF genes & repeats	Hela-S3	cervix
8	chr17:45234200-45235800	ZNF genes & repeats	HMEC	breast
9	chr17:45234200-45235800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
10	chr17:45234200-45235800	ZNF genes & repeats	Osteobl	bone
11	chr17:45234400-45236000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr17:45234400-45236000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr17:45234400-45236200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr17:45234600-45235600	Weak transcription	NHLF	lung
15	chr17:45234600-45235800	Weak transcription	Fetal Brain Female	brain
16	chr17:45234600-45236000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr17:45234600-45249200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr17:45234600-45249400	Strong transcription	A549	lung
19	chr17:45235200-45247200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr17:45235400-45235600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr17:45235400-45235600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr17:45235400-45235600	Bivalent/Poised TSS	Right Atrium	heart
23	chr17:45235400-45235600	Genic enhancers	Right Ventricle	heart
24	chr17:45235400-45235800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
25	chr17:45235400-45235800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
26	chr17:45235400-45235800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr17:45235400-45235800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr17:45235400-45235800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr17:45235400-45235800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr17:45235400-45235800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
31	chr17:45235400-45235800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr17:45235400-45235800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr17:45235400-45235800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
34	chr17:45235400-45235800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
35	chr17:45235400-45235800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr17:45235400-45235800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
37	chr17:45235400-45235800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
38	chr17:45235400-45235800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr17:45235400-45235800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr17:45235400-45235800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
41	chr17:45235400-45235800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr17:45235400-45235800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr17:45235400-45235800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
44	chr17:45235400-45235800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr17:45235400-45235800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
46	chr17:45235400-45235800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
47	chr17:45235400-45235800	ZNF genes & repeats	Primary B cells from cord blood	blood
48	chr17:45235400-45235800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
49	chr17:45235400-45235800	ZNF genes & repeats	Primary T cells from cord blood	blood
50	chr17:45235400-45235800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links