Variant report

Variant	esv2473053
Chromosome Location	chr3:48957279-48959505
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:200)
CpG islands
(count:244)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:200 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr3:48956958-48957507	GM12878	blood:	n/a	n/a
2	BACH1	chr3:48957418-48957423	K562	blood:	n/a	n/a
3	BCLAF1	chr3:48957079-48957524	GM12878	blood:	n/a	n/a
4	BHLHE40	chr3:48957235-48957496	K562	blood:	n/a	n/a
5	BRCA1	chr3:48955610-48957469	Hela-S3	cervix:	n/a	n/a
6	CCNT2	chr3:48958070-48958148	K562	blood:	n/a	n/a
7	CEBPB	chr3:48956961-48957623	GM12878	blood:	n/a	n/a
8	CHD1	chr3:48955533-48957765	IMR90	lung:	n/a	n/a
9	CHD1	chr3:48955614-48957406	GM12878	blood:	n/a	n/a
10	CHD1	chr3:48956816-48957387	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr3:48957380-48957530	GM12873	blood:	n/a	n/a
12	CTCF	chr3:48957340-48957490	GM12865	blood:	n/a	n/a
13	CTCF	chr3:48957351-48957371	GM12878	blood:	n/a	n/a
14	CTCF	chr3:48957340-48957490	GM12872	blood:	n/a	n/a
15	CTCF	chr3:48957320-48957470	HEEpiC	esophagus:	n/a	n/a
16	CTCF	chr3:48957400-48957550	HepG2	liver:	n/a	n/a
17	CTCF	chr3:48957433-48957493	Lung_OC	lung:	n/a	n/a
18	CTCF	chr3:48957420-48957570	GM12872	blood:	n/a	n/a
19	CTCF	chr3:48957340-48957590	GM12873	blood:	n/a	n/a
20	E2F4	chr3:48957393-48957563	MCF10A-Er-Src	breast:	n/a	n/a
21	EBF1	chr3:48957226-48957387	GM12878	blood:	n/a	n/a
22	GATA1	chr3:48955593-48957469	PBDE	blood:	n/a	n/a
23	HA-E2F1	chr3:48955727-48957517	MCF-7	breast:	n/a	chr3:48956839-48956854 chr3:48956684-48956694 chr3:48956628-48956640
24	HCFC1	chr3:48955446-48957694	Hela-S3	cervix:	n/a	n/a
25	HDAC2	chr3:48957273-48957494	HepG2	liver:	n/a	n/a
26	HEY1	chr3:48957188-48957444	HepG2	liver:	n/a	n/a
27	HEY1	chr3:48957868-48958141	K562	blood:	n/a	n/a
28	HEY1	chr3:48955582-48957679	K562	blood:	n/a	chr3:48956596-48956611 chr3:48956781-48956796
29	HEY1	chr3:48957111-48957533	HepG2	liver:	n/a	n/a
30	IRF1	chr3:48957003-48957457	K562	blood:	n/a	n/a
31	JUND	chr3:48957246-48957483	K562	blood:	n/a	n/a
32	KAP1	chr3:48957149-48957601	U2OS	brain:	n/a	n/a
33	KAP1	chr3:48956612-48957673	HEK293	kidney:	n/a	n/a
34	MAFK	chr3:48957160-48957354	HepG2	liver:	n/a	chr3:48957204-48957218 chr3:48957206-48957217 chr3:48957206-48957217 chr3:48957205-48957220 chr3:48957205-48957221 chr3:48957205-48957216 chr3:48957205-48957216
35	MAFK	chr3:48957004-48957412	Hela-S3	cervix:	n/a	chr3:48957204-48957218 chr3:48957206-48957217 chr3:48957206-48957217 chr3:48957205-48957220 chr3:48957205-48957221 chr3:48957205-48957216 chr3:48957205-48957216
36	MAX	chr3:48955647-48957549	K562	blood:	n/a	chr3:48957381-48957391
37	MAX	chr3:48955579-48957569	Hela-S3	cervix:	n/a	chr3:48957381-48957391
38	MAX	chr3:48955477-48957761	HepG2	liver:	n/a	chr3:48957381-48957391
39	MAX	chr3:48955629-48957572	NB4	blood:	n/a	chr3:48957381-48957391
40	MAX	chr3:48956246-48957446	A549	lung:	n/a	chr3:48957381-48957391
41	MAX	chr3:48955575-48957624	ECC-1	luminal epithelium:	n/a	chr3:48957381-48957391
42	MAX	chr3:48955559-48957722	HCT-116	colon:	n/a	chr3:48957381-48957391
43	MAX	chr3:48955576-48957682	A549	lung:	n/a	chr3:48957381-48957391
44	MAX	chr3:48955487-48957610	SK-N-SH	brain:	n/a	chr3:48957381-48957391
45	MAX	chr3:48955518-48957729	HCT-116	colon:	n/a	chr3:48957381-48957391
46	MAX	chr3:48955611-48957523	GM12878	blood:	n/a	chr3:48957381-48957391
47	MAX	chr3:48955571-48957669	HepG2	liver:	n/a	chr3:48957381-48957391
48	MAX	chr3:48956902-48957519	H1-hESC	embryonic stem cell:	n/a	chr3:48957381-48957391
49	MAX	chr3:48955710-48957616	A549	lung:	n/a	chr3:48957381-48957391
50	MAX	chr3:48956824-48957537	H1-hESC	embryonic stem cell:	n/a	chr3:48957381-48957391

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:48959375-48959425	MCF10A-Er-Src	breast:	n/a
2	chr3:48959341-48959391	NT2-D1	testis:	n/a
3	chr3:48959375-48959425	AG10803	skin:	n/a
4	chr3:48957559-48957609	MCF10A-Er-Src	breast:	n/a
5	chr3:48957559-48957609	Jurkat	blood:	n/a
6	chr3:48959375-48959425	HRPEpiC	eye:	n/a
7	chr3:48957559-48957609	HNPCEpiC	eye:	n/a
8	chr3:48959375-48959425	HEK293	kidney:	embryo
9	chr3:48957246-48957296	HIPEpiC	eye:	n/a
10	chr3:48957246-48957296	AG04450	lung:	fetal
11	chr3:48959341-48959391	RPTEC	kidney:	n/a
12	chr3:48957246-48957296	RPTEC	kidney:	n/a
13	chr3:48957246-48957296	SK-N-MC	brain:	n/a
14	chr3:48959341-48959391	AG04449	skin:	fetal
15	chr3:48959375-48959425	NHDF-neo	bronchial:	n/a
16	chr3:48957559-48957609	IMR90	lung:	fetal
17	chr3:48959375-48959425	GM12878	blood:	n/a
18	chr3:48959375-48959425	SK-N-SH	brain:	n/a
19	chr3:48959341-48959391	SKMC	muscle:	n/a
20	chr3:48959341-48959391	MCF-7	breast:	n/a
21	chr3:48957559-48957609	HCT-116	colon:	n/a
22	chr3:48957559-48957609	AG04450	lung:	fetal
23	chr3:48957559-48957609	ProgFib	skin:	n/a
24	chr3:48959341-48959391	HNPCEpiC	eye:	n/a
25	chr3:48957246-48957296	A549	lung:	n/a
26	chr3:48957559-48957609	GM12891	blood:	n/a
27	chr3:48959341-48959391	HepG2	liver:	n/a
28	chr3:48959375-48959425	SAEC	small airway:	n/a
29	chr3:48959375-48959425	T-47D	breast:	n/a
30	chr3:48959375-48959425	Hepatocyte	liver:	n/a
31	chr3:48959341-48959391	CMK	blood:	n/a
32	chr3:48957246-48957296	ProgFib	skin:	n/a
33	chr3:48957559-48957609	SK-N-SH	brain:	n/a
34	chr3:48957559-48957609	NHDF-neo	bronchial:	n/a
35	chr3:48959375-48959425	HNPCEpiC	eye:	n/a
36	chr3:48957246-48957296	HCT-116	colon:	n/a
37	chr3:48957559-48957609	AG09319	gingival:	n/a
38	chr3:48957559-48957609	PANC-1	pancreas:	n/a
39	chr3:48959341-48959391	PANC-1	pancreas:	n/a
40	chr3:48957246-48957296	Hepatocyte	liver:	n/a
41	chr3:48957246-48957296	U87	brain:	n/a
42	chr3:48957559-48957609	AoSMC	blood vessel:	n/a
43	chr3:48959341-48959391	Jurkat	blood:	n/a
44	chr3:48959375-48959425	U87	brain:	n/a
45	chr3:48959341-48959391	NB4	blood:	n/a
46	chr3:48957246-48957296	GM12891	blood:	n/a
47	chr3:48959375-48959425	HCM	heart:	n/a
48	chr3:48957559-48957609	GM12878	blood:	n/a
49	chr3:48959341-48959391	AG04450	lung:	fetal
50	chr3:48959341-48959391	NHDF-neo	bronchial:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:48956092..48958804-chr3:49057398..49059224,2	K562	blood:
2	chr3:48700863..48702620-chr3:48955867..48958209,2	K562	blood:
3	chr3:48700103..48702620-chr3:48955233..48957367,3	K562	blood:
4	chr3:48777544..48781186-chr3:48954650..48958375,5	K562	blood:
5	chr3:48954426..48959569-chr3:49057203..49060067,5	K562	blood:
6	chr3:48831351..48833653-chr3:48957027..48958695,2	MCF-7	breast:
7	chr3:48955220..48957658-chr3:48960315..48963071,3	MCF-7	breast:
8	chr3:48956178..48958930-chr3:48964681..48967359,2	MCF-7	breast:
9	chr3:48753119..48755656-chr3:48955067..48957607,2	MCF-7	breast:
10	chr3:48752504..48754863-chr3:48957920..48960085,2	K562	blood:
11	chr3:48882526..48887589-chr3:48952932..48958567,11	K562	blood:
12	chr3:48954616..48957728-chr3:49043769..49045935,3	K562	blood:
13	chr3:48956190..48958160-chr3:48963848..48966266,2	MCF-7	breast:
14	chr3:48933374..48937590-chr3:48954193..48958596,7	K562	blood:
15	chr3:48722838..48724823-chr3:48955919..48958463,2	K562	blood:
16	chr3:48955694..48958185-chr3:49021057..49023573,2	K562	blood:
17	chr3:48882526..48886164-chr3:48952991..48958735,8	K562	blood:
18	chr3:48955974..48957797-chr3:49448912..49450941,2	K562	blood:

No data

Variant related genes	Relation type
ARIH2OS	TF binding region
ARIH2	TF binding region
ARIH2OS	CpG island
ARIH2	CpG island
ENSG00000207605	chromatin interactions
ENSG00000177479	chromatin interactions
ENSG00000178057	chromatin interactions
ENSG00000008300	chromatin interactions
ENSG00000228350	chromatin interactions
ENSG00000145022	chromatin interactions
ENSG00000224424	chromatin interactions
ENSG00000067560	chromatin interactions
ENSG00000235236	chromatin interactions
ENSG00000178537	chromatin interactions
ENSG00000178252	chromatin interactions
ENSG00000273211	chromatin interactions
ENSG00000199032	chromatin interactions
ENSG00000114302	chromatin interactions
ENSG00000178149	chromatin interactions
ENSG00000068745	chromatin interactions
ENSG00000213672	chromatin interactions

Extended variants
information (count: 62 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553400040	chr3:48957290-48957291	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
2	rs575029417	chr3:48957339-48957340	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
3	rs535100963	chr3:48957376-48957377	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
4	rs199559128	chr3:48957402-48957403	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
5	rs190406723	chr3:48957473-48957474	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
6	rs560156486	chr3:48957509-48957510	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
7	rs201644448	chr3:48957519-48957520	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
8	rs574876379	chr3:48957533-48957534	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
9	rs545519278	chr3:48957541-48957542	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
10	rs369182879	chr3:48957559-48957560	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
11	rs182231038	chr3:48957565-48957566	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
12	rs540385334	chr3:48957588-48957589	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
13	rs561840547	chr3:48957603-48957604	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
14	rs186817512	chr3:48957640-48957641	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
15	rs376171164	chr3:48957659-48957660	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
16	rs202029966	chr3:48957661-48957662	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
17	rs572573667	chr3:48957680-48957681	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
18	rs542262232	chr3:48957723-48957724	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
19	rs9637481	chr3:48957814-48957815	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs113356851	chr3:48957843-48957844	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
21	rs563708938	chr3:48957862-48957863	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
22	rs11706805	chr3:48957907-48957908	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
23	rs13064272	chr3:48957917-48957918	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
24	rs546087134	chr3:48958023-48958024	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
25	rs13068948	chr3:48958030-48958031	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
26	rs113359009	chr3:48958038-48958039	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
27	rs530906492	chr3:48958073-48958074	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
28	rs79115177	chr3:48958085-48958086	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
29	rs552437149	chr3:48958114-48958115	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
30	rs570915677	chr3:48958191-48958192	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs111525271	chr3:48958280-48958281	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs539397458	chr3:48958319-48958320	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs528680247	chr3:48958325-48958326	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs547142003	chr3:48958334-48958335	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs147248364	chr3:48958373-48958374	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs370884522	chr3:48958420-48958421	Weak transcription Strong transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs557207829	chr3:48958480-48958481	Weak transcription Strong transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs185834393	chr3:48958486-48958487	Weak transcription Strong transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs190203125	chr3:48958492-48958493	Weak transcription Strong transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	mRNA abundance
40	rs13092715	chr3:48958706-48958707	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs13070214	chr3:48958709-48958710	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs111857993	chr3:48958720-48958721	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs9856444	chr3:48958726-48958727	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs541944946	chr3:48958772-48958773	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs56122830	chr3:48958782-48958783	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs140666757	chr3:48958801-48958802	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs572851467	chr3:48958851-48958852	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs540077528	chr3:48958975-48958976	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs149444146	chr3:48958976-48958977	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs573865708	chr3:48958988-48958989	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medullary thyroid carcinoma	18765511	CNVD
abnormal development	18461090	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:458 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48954800-48957800	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr3:48955000-48957600	Active TSS	Fetal Brain Female	brain
3	chr3:48955000-48957600	Active TSS	HSMM	muscle
4	chr3:48955200-48957600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:48955200-48957600	Active TSS	Fetal Intestine Small	intestine
6	chr3:48955200-48957600	Active TSS	Hela-S3	cervix
7	chr3:48955200-48957800	Active TSS	Colonic Mucosa	Colon
8	chr3:48955200-48957800	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr3:48955200-48957800	Active TSS	Rectal Mucosa Donor 31	rectum
10	chr3:48955200-48958200	Active TSS	GM12878-XiMat	blood
11	chr3:48955200-48958200	Active TSS	K562	blood
12	chr3:48955400-48957400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:48955400-48957400	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr3:48955400-48957400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr3:48955400-48957400	Active TSS	Colon Smooth Muscle	Colon
16	chr3:48955400-48957400	Active TSS	Esophagus	oesophagus
17	chr3:48955400-48957400	Active TSS	Left Ventricle	heart
18	chr3:48955400-48957600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:48955400-48957600	Active TSS	Pancreas	Pancrea
20	chr3:48955400-48957600	Active TSS	HSMMtube	muscle
21	chr3:48955400-48957800	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr3:48955400-48957800	Active TSS	H9 Cell Line	embryonic stem cell
23	chr3:48955400-48957800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr3:48955400-48957800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:48955400-48957800	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr3:48955400-48957800	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr3:48955400-48957800	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr3:48955400-48957800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:48955400-48957800	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr3:48955400-48957800	Active TSS	Psoas Muscle	Psoas
31	chr3:48955400-48957800	Active TSS	Right Atrium	heart
32	chr3:48955400-48957800	Active TSS	Right Ventricle	heart
33	chr3:48955400-48957800	Active TSS	NHDF-Ad	bronchial
34	chr3:48955400-48957800	Active TSS	NHLF	lung
35	chr3:48955400-48958000	Active TSS	A549	lung
36	chr3:48955600-48957400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:48955600-48957400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:48955600-48957400	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr3:48955600-48957400	Active TSS	Fetal Intestine Large	intestine
40	chr3:48955600-48957400	Active TSS	Fetal Muscle Trunk	muscle
41	chr3:48955600-48957400	Active TSS	Ovary	ovary
42	chr3:48955600-48957400	Active TSS	Placenta Amnion	Placenta Amnion
43	chr3:48955600-48957400	Active TSS	Spleen	Spleen
44	chr3:48955600-48957600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr3:48955600-48957600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr3:48955600-48957600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:48955600-48957600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr3:48955600-48957600	Active TSS	Gastric	stomach
49	chr3:48955600-48957600	Active TSS	Sigmoid Colon	Sigmoid Colon
50	chr3:48955600-48957600	Active TSS	Stomach Mucosa	stomach

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