Variant report

Variant	esv3357229
Chromosome Location	chr5:115893403-115895551
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:115893407-115893716	HepG2	liver:	n/a	n/a
2	ATF2	chr5:115895247-115895813	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr5:115894735-115895142	H1-hESC	embryonic stem cell:	n/a	n/a
4	BRCA1	chr5:115893416-115893774	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr5:115893499-115893824	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chr5:115894910-115895174	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr5:115893500-115893650	HUVEC	blood vessel:	n/a	chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
8	CTCF	chr5:115893400-115893550	HVMF	connective:	n/a	chr5:115893484-115893492
9	CTCF	chr5:115893460-115893610	GM12873	blood:	n/a	chr5:115893484-115893492 chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
10	CTCF	chr5:115893480-115893630	AG04450	lung:	n/a	chr5:115893484-115893492 chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
11	CTCF	chr5:115893480-115893630	Caco-2	colon:	n/a	chr5:115893484-115893492 chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
12	CTCF	chr5:115893460-115893610	GM12872	blood:	n/a	chr5:115893484-115893492 chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
13	CTCF	chr5:115893440-115893590	GM06990	blood:	n/a	chr5:115893484-115893492 chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
14	CTCF	chr5:115893372-115893761	IMR90	lung:	n/a	chr5:115893484-115893492 chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
15	CTCF	chr5:115893455-115893658	GM10248	blood:	n/a	chr5:115893484-115893492 chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
16	CTCF	chr5:115893429-115893676	H1-hESC	embryonic stem cell:	n/a	chr5:115893484-115893492 chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
17	CTCF	chr5:115893480-115893630	HCT-116	colon:	n/a	chr5:115893484-115893492 chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
18	CTCF	chr5:115893480-115893630	HepG2	liver:	n/a	chr5:115893484-115893492 chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
19	CTCF	chr5:115893440-115893590	HRPEpiC	eye:	n/a	chr5:115893484-115893492 chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
20	CTCF	chr5:115893451-115893683	Hela-S3	cervix:	n/a	chr5:115893484-115893492 chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
21	CTCF	chr5:115893480-115893630	GM12875	blood:	n/a	chr5:115893484-115893492 chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
22	CTCF	chr5:115893480-115893630	NHDF-neo	bronchial:	n/a	chr5:115893484-115893492 chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
23	CTCF	chr5:115893460-115893610	RPTEC	kidney:	n/a	chr5:115893484-115893492 chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
24	CTCF	chr5:115893460-115893610	Caco-2	colon:	n/a	chr5:115893484-115893492 chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
25	CTCF	chr5:115893500-115893650	NHEK	skin:	n/a	chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
26	CTCF	chr5:115893267-115893789	HCT-116	colon:	n/a	chr5:115893484-115893492 chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
27	CTCF	chr5:115893440-115893590	GM12868	blood:	n/a	chr5:115893484-115893492 chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
28	CTCF	chr5:115893470-115893615	NHEK	skin:	n/a	chr5:115893484-115893492 chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
29	CTCF	chr5:115893520-115893670	BJ	skin:	n/a	chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
30	CTCF	chr5:115893500-115893650	SK-N-SH_RA	brain:	n/a	chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
31	CTCF	chr5:115893460-115893610	AoAF	blood vessel:	n/a	chr5:115893484-115893492 chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
32	CTCF	chr5:115893460-115893610	AG04449	skin:	n/a	chr5:115893484-115893492 chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
33	CTCF	chr5:115893520-115893670	AG09319	gingival:	n/a	chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
34	CTCF	chr5:115893480-115893630	HPAF	blood vessel:	n/a	chr5:115893484-115893492 chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
35	CTCF	chr5:115893477-115893623	GM19239	blood:	n/a	chr5:115893484-115893492 chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
36	CTCF	chr5:115893480-115893630	AoAF	blood vessel:	n/a	chr5:115893484-115893492 chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
37	CTCF	chr5:115893500-115893650	GM12872	blood:	n/a	chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
38	CTCF	chr5:115893421-115893713	HUVEC	blood vessel:	n/a	chr5:115893484-115893492 chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
39	CTCF	chr5:115893420-115893570	HEEpiC	esophagus:	n/a	chr5:115893484-115893492 chr5:115893562-115893570
40	CTCF	chr5:115894680-115894830	GM06990	blood:	n/a	n/a
41	CTCF	chr5:115893419-115893681	Gliobla	brain:	n/a	chr5:115893484-115893492 chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
42	CTCF	chr5:115893460-115893610	HMEC	breast:	n/a	chr5:115893484-115893492 chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
43	CTCF	chr5:115893500-115893650	MCF-7	breast:	n/a	chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
44	CTCF	chr5:115893460-115893610	HPAF	blood vessel:	n/a	chr5:115893484-115893492 chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
45	CTCF	chr5:115893500-115893650	AG04449	skin:	n/a	chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
46	CTCF	chr5:115893450-115893641	Lung_OC	lung:	n/a	chr5:115893484-115893492 chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
47	CTCF	chr5:115893460-115893610	AG09309	skin:	n/a	chr5:115893484-115893492 chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
48	CTCF	chr5:115893460-115893610	GM12874	blood:	n/a	chr5:115893484-115893492 chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
49	CTCF	chr5:115893460-115893610	GM12864	blood:	n/a	chr5:115893484-115893492 chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570
50	CTCF	chr5:115893460-115893610	A549	lung:	n/a	chr5:115893484-115893492 chr5:115893559-115893580 chr5:115893558-115893574 chr5:115893557-115893575 chr5:115893562-115893570

No.	Distal block	Cell Line	Cell type
1	chr5:115892597..115894869-chr5:115895299..115897417,2	K562	blood:
2	chr5:115892597..115894869-chr5:115895299..115897417,2	K562	blood:
3	chr5:115895001..115897524-chr5:115899186..115901085,2	K562	blood:

Variant related genes	Relation type
SEMA6A	TF binding region
ENSG00000239528	TF binding region

Extended variants
information (count: 78 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556816495	chr5:115893431-115893432	Flanking Active TSS Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs577360586	chr5:115893475-115893476	Flanking Active TSS Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs187973383	chr5:115893493-115893494	Flanking Active TSS Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs539693840	chr5:115893522-115893523	Flanking Active TSS Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs553206950	chr5:115893530-115893531	Flanking Active TSS Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs111245368	chr5:115893534-115893535	Flanking Active TSS Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs369920880	chr5:115893539-115893540	Flanking Active TSS Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs541789899	chr5:115893563-115893564	Flanking Active TSS Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs530693381	chr5:115893578-115893579	Flanking Active TSS Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs575582057	chr5:115893588-115893589	Flanking Active TSS Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs192801456	chr5:115893598-115893599	Flanking Active TSS Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs147892041	chr5:115893615-115893616	Flanking Active TSS Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs564468056	chr5:115893628-115893629	Flanking Active TSS Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs75171062	chr5:115893658-115893659	Flanking Active TSS Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs552409339	chr5:115893679-115893680	Flanking Active TSS Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs559652324	chr5:115893696-115893697	Flanking Active TSS Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs60190258	chr5:115893716-115893717	Flanking Active TSS Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs548217921	chr5:115893730-115893731	Flanking Active TSS Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs543100758	chr5:115893760-115893761	Flanking Active TSS Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs78289681	chr5:115893782-115893783	Flanking Active TSS Weak transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs548012241	chr5:115893808-115893809	Enhancers Weak transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs184844128	chr5:115893812-115893813	Enhancers Weak transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs369531944	chr5:115893913-115893914	Enhancers Weak transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs559942934	chr5:115893998-115893999	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190116544	chr5:115894008-115894009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570459580	chr5:115894019-115894020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530318844	chr5:115894046-115894047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539607101	chr5:115894082-115894083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200809850	chr5:115894149-115894150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375971715	chr5:115894150-115894151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369006905	chr5:115894151-115894152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12658703	chr5:115894220-115894221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569922940	chr5:115894221-115894222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566749337	chr5:115894271-115894272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1700486	chr5:115894438-115894439	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181708865	chr5:115894451-115894452	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377100610	chr5:115894454-115894455	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369614232	chr5:115894455-115894456	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372734789	chr5:115894456-115894457	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs199824220	chr5:115894457-115894458	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs578155629	chr5:115894493-115894494	Active TSS Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs545993283	chr5:115894539-115894540	Active TSS Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs254210	chr5:115894566-115894567	Active TSS Weak transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs254209	chr5:115894579-115894580	Active TSS Weak transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs542100743	chr5:115894588-115894589	Active TSS Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs147896492	chr5:115894595-115894596	Active TSS Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs530481002	chr5:115894652-115894653	Flanking Active TSS Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs550318169	chr5:115894663-115894664	Flanking Active TSS Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs570181915	chr5:115894700-115894701	Flanking Active TSS Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs141563898	chr5:115894702-115894703	Flanking Active TSS Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115880800-115900600	Weak transcription	Fetal Kidney	kidney
2	chr5:115882600-115895400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:115885400-115894000	Genic enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:115885400-115894600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:115885800-115893600	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr5:115886600-115901000	Weak transcription	Placenta	Placenta
7	chr5:115887400-115895000	Weak transcription	Lung	lung
8	chr5:115887400-115897000	Weak transcription	Small Intestine	intestine
9	chr5:115888400-115893800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:115889000-115895200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:115889200-115893600	Enhancers	Brain Substantia Nigra	brain
12	chr5:115889400-115895000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:115889400-115899400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:115889600-115895400	Weak transcription	Fetal Brain Female	brain
15	chr5:115889600-115898400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:115890000-115900800	Enhancers	Brain Hippocampus Middle	brain
17	chr5:115890400-115893600	Enhancers	HepG2	liver
18	chr5:115890600-115893800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr5:115890600-115907800	Weak transcription	Spleen	Spleen
20	chr5:115890800-115894800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:115890800-115894800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:115890800-115894800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:115890800-115895000	Weak transcription	Left Ventricle	heart
24	chr5:115890800-115895600	Weak transcription	Pancreas	Pancrea
25	chr5:115890800-115895800	Weak transcription	Colon Smooth Muscle	Colon
26	chr5:115890800-115898800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr5:115890800-115907600	Weak transcription	Colonic Mucosa	Colon
28	chr5:115891000-115894200	Enhancers	Brain Anterior Caudate	brain
29	chr5:115891000-115894600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr5:115891000-115894600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:115891000-115894600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:115891000-115895800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr5:115891000-115898200	Weak transcription	Right Atrium	heart
34	chr5:115891000-115900600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:115891000-115907600	Weak transcription	Ovary	ovary
36	chr5:115891200-115904600	Weak transcription	Fetal Stomach	stomach
37	chr5:115891400-115895400	Weak transcription	Psoas Muscle	Psoas
38	chr5:115891400-115905200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:115891800-115894600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr5:115891800-115894800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr5:115892000-115894800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:115892600-115894400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr5:115892600-115894800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr5:115893000-115893600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr5:115893000-115893600	Enhancers	Fetal Intestine Large	intestine
46	chr5:115893000-115893800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr5:115893000-115894800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr5:115893000-115894800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr5:115893000-115894800	Weak transcription	Fetal Intestine Small	intestine
50	chr5:115893200-115893800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links