Variant report

Variant	esv2762652
Chromosome Location	chr7:12733802-12749636
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	chr7:12741114-12741228	K562	blood:	n/a	n/a
2	ARID3A	chr7:12733587-12734201	K562	blood:	n/a	n/a
3	ATF3	chr7:12741117-12741386	K562	blood:	n/a	n/a
4	CBX3	chr7:12740939-12741527	K562	blood:	n/a	n/a
5	CBX3	chr7:12741005-12741508	K562	blood:	n/a	n/a
6	CBX3	chr7:12735542-12736124	HCT-116	colon:	n/a	n/a
7	CBX3	chr7:12740992-12741482	HCT-116	colon:	n/a	n/a
8	CBX3	chr7:12738687-12739121	K562	blood:	n/a	n/a
9	CCNT2	chr7:12735360-12735954	K562	blood:	n/a	n/a
10	CEBPB	chr7:12748451-12748645	HepG2	liver:	n/a	chr7:12748569-12748580
11	CEBPB	chr7:12745551-12745848	A549	lung:	n/a	n/a
12	CEBPB	chr7:12745506-12745841	IMR90	lung:	n/a	n/a
13	CEBPB	chr7:12745424-12745974	A549	lung:	n/a	n/a
14	CEBPB	chr7:12736511-12736596	A549	lung:	n/a	n/a
15	CEBPB	chr7:12748420-12748720	K562	blood:	n/a	chr7:12748569-12748580
16	CEBPB	chr7:12745500-12745851	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr7:12745526-12745784	A549	lung:	n/a	n/a
18	CTCF	chr7:12749518-12749572	GM13976	blood:	n/a	n/a
19	E2F4	chr7:12736458-12736557	MCF10A-Er-Src	breast:	n/a	n/a
20	E2F4	chr7:12747024-12747225	MCF10A-Er-Src	breast:	n/a	n/a
21	ELK1	chr7:12742617-12742618	Hela-S3	cervix:	n/a	n/a
22	EP300	chr7:12746382-12747134	ECC-1	luminal epithelium:	n/a	chr7:12746588-12746596
23	EP300	chr7:12734008-12734181	Hela-S3	cervix:	n/a	n/a
24	EP300	chr7:12741169-12741356	K562	blood:	n/a	n/a
25	ESR1	chr7:12746326-12746985	ECC-1	luminal epithelium:	n/a	n/a
26	ESR1	chr7:12746600-12746949	ECC-1	luminal epithelium:	n/a	n/a
27	ESR1	chr7:12746546-12746908	ECC-1	luminal epithelium:	n/a	n/a
28	ESR1	chr7:12746554-12746934	ECC-1	luminal epithelium:	n/a	n/a
29	ESR1	chr7:12746398-12747047	ECC-1	luminal epithelium:	n/a	n/a
30	FOS	chr7:12735124-12735130	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr7:12743547-12743880	MCF10A-Er-Src	breast:	n/a	chr7:12743712-12743720 chr7:12743712-12743719
32	FOS	chr7:12742367-12742469	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr7:12745547-12745933	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr7:12735580-12736021	MCF10A-Er-Src	breast:	n/a	chr7:12735801-12735809 chr7:12735801-12735810 chr7:12735802-12735809 chr7:12735800-12735809 chr7:12735800-12735810
35	FOS	chr7:12746481-12746523	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr7:12735615-12736001	MCF10A-Er-Src	breast:	n/a	chr7:12735801-12735809 chr7:12735801-12735810 chr7:12735802-12735809 chr7:12735800-12735809 chr7:12735800-12735810
37	FOS	chr7:12745552-12745913	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr7:12734115-12734201	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr7:12735481-12735990	MCF10A-Er-Src	breast:	n/a	chr7:12735801-12735809 chr7:12735801-12735810 chr7:12735802-12735809 chr7:12735800-12735809 chr7:12735800-12735810
40	FOS	chr7:12746649-12747374	MCF10A-Er-Src	breast:	n/a	chr7:12747092-12747103 chr7:12747093-12747103 chr7:12747093-12747103 chr7:12747094-12747103 chr7:12747093-12747103 chr7:12747093-12747103
41	FOS	chr7:12748430-12748692	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr7:12746802-12747280	MCF10A-Er-Src	breast:	n/a	chr7:12747092-12747103 chr7:12747093-12747103 chr7:12747093-12747103 chr7:12747094-12747103 chr7:12747093-12747103 chr7:12747093-12747103
43	FOS	chr7:12736457-12736643	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr7:12746778-12747371	MCF10A-Er-Src	breast:	n/a	chr7:12747092-12747103 chr7:12747093-12747103 chr7:12747093-12747103 chr7:12747094-12747103 chr7:12747093-12747103 chr7:12747093-12747103
45	FOS	chr7:12734014-12734294	MCF10A-Er-Src	breast:	n/a	chr7:12734025-12734032
46	FOS	chr7:12738646-12738764	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr7:12743559-12743865	MCF10A-Er-Src	breast:	n/a	chr7:12743712-12743720 chr7:12743712-12743719
48	FOS	chr7:12746630-12747515	MCF10A-Er-Src	breast:	n/a	chr7:12747092-12747103 chr7:12747093-12747103 chr7:12747093-12747103 chr7:12747094-12747103 chr7:12747093-12747103 chr7:12747093-12747103
49	FOS	chr7:12743576-12743837	MCF10A-Er-Src	breast:	n/a	chr7:12743712-12743720 chr7:12743712-12743719
50	FOS	chr7:12746901-12747285	HUVEC	blood vessel:	n/a	chr7:12747092-12747103 chr7:12747093-12747103 chr7:12747093-12747103 chr7:12747094-12747103 chr7:12747093-12747103 chr7:12747093-12747103

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:12735409-12735459	HEEpiC	esophagus:	n/a
2	chr7:12735409-12735459	HEEpiC	esophagus:	n/a
3	chr7:12735409-12735459	CMK	blood:	n/a
4	chr7:12735409-12735459	H1-hESC	embryonic stem cell:	embryo
5	chr7:12735409-12735459	HCT-116	colon:	n/a
6	chr7:12735409-12735459	IMR90	lung:	fetal
7	chr7:12735409-12735459	AoSMC	blood vessel:	n/a
8	chr7:12735409-12735459	HPAEpiC	pulmonary alveolar:	n/a
9	chr7:12735409-12735459	HUVEC	blood vessel:	n/a
10	chr7:12735409-12735459	PFSK-1	brain:	n/a
11	chr7:12735409-12735459	HRCEpiC	kidney:	n/a
12	chr7:12735409-12735459	U87	brain:	n/a
13	chr7:12735409-12735459	SK-N-MC	brain:	n/a
14	chr7:12735409-12735459	BE2_C	brain:	n/a
15	chr7:12735409-12735459	HepG2	liver:	n/a
16	chr7:12735409-12735459	AG09309	skin:	n/a
17	chr7:12735409-12735459	GM12878	blood:	n/a
18	chr7:12735409-12735459	PrEC	prostate:	n/a
19	chr7:12735409-12735459	Jurkat	blood:	n/a
20	chr7:12735409-12735459	GM06990	blood:	n/a
21	chr7:12735409-12735459	HMEC	breast:	n/a
22	chr7:12735409-12735459	SKMC	muscle:	n/a
23	chr7:12735409-12735459	T-47D	breast:	n/a
24	chr7:12735409-12735459	GM12891	blood:	n/a
25	chr7:12735409-12735459	SK-N-SH_RA	brain:	n/a
26	chr7:12735409-12735459	AG10803	skin:	n/a
27	chr7:12735409-12735459	HAEpiC	amniotic membrane:	n/a
28	chr7:12735409-12735459	SAEC	small airway:	n/a
29	chr7:12735409-12735459	ovcar-3	ovarian:	n/a
30	chr7:12735409-12735459	HEK293	kidney:	embryo
31	chr7:12735409-12735459	HNPCEpiC	eye:	n/a
32	chr7:12735409-12735459	K562	blood:	n/a
33	chr7:12735409-12735459	NH-A	brain:	n/a
34	chr7:12735409-12735459	HCPEpiC	choroid plexus:	n/a
35	chr7:12735409-12735459	GM12892	blood:	n/a
36	chr7:12735409-12735459	Hela-S3	cervix:	n/a
37	chr7:12735409-12735459	NT2-D1	testis:	n/a
38	chr7:12735409-12735459	Hepatocyte	liver:	n/a
39	chr7:12735409-12735459	A549	lung:	n/a
40	chr7:12735409-12735459	MCF10A-Er-Src	breast:	n/a
41	chr7:12735409-12735459	ProgFib	skin:	n/a
42	chr7:12735409-12735459	Caco-2	colon:	n/a
43	chr7:12735409-12735459	LNCaP	prostate:	n/a
44	chr7:12735409-12735459	NB4	blood:	n/a
45	chr7:12735409-12735459	AG04450	lung:	fetal
46	chr7:12735409-12735459	HIPEpiC	eye:	n/a
47	chr7:12735409-12735459	MCF-7	breast:	n/a
48	chr7:12735409-12735459	PANC-1	pancreas:	n/a
49	chr7:12735409-12735459	SK-N-SH	brain:	n/a
50	chr7:12735409-12735459	HRE	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:12735943..12738282-chr7:12934413..12937137,2	K562	blood:
2	chr7:12740786..12742705-chr7:12744684..12746213,2	MCF-7	breast:
3	chr7:12746516..12748065-chr7:12787286..12789975,2	K562	blood:
4	chr7:12730292..12732021-chr7:12732169..12734035,2	MCF-7	breast:
5	chr7:12740786..12742705-chr7:12744684..12746213,2	MCF-7	breast:
6	chr7:12616812..12619464-chr7:12732050..12734419,2	K562	blood:
7	chr7:12724561..12731097-chr7:12744483..12748724,8	K562	blood:
8	chr7:12725982..12739416-chr7:12748956..12757396,41	K562	blood:
9	chr7:12733142..12735648-chr7:12788213..12790851,2	MCF-7	breast:
10	chr7:12729761..12734600-chr7:13300705..13305061,6	K562	blood:
11	chr7:12732435..12735285-chr7:12904992..12907592,2	K562	blood:
12	chr7:12729128..12735523-chr7:12765929..12775781,12	K562	blood:
13	chr7:12736363..12739196-chr7:12746914..12748860,2	K562	blood:
14	chr7:12736363..12739196-chr7:12746914..12748860,2	K562	blood:
15	chr7:12741433..12743635-chr7:12747314..12748891,2	MCF-7	breast:
16	chr7:12730040..12735403-chr7:12757431..12760673,6	K562	blood:
17	chr7:12734430..12737342-chr7:13081793..13084247,2	K562	blood:
18	chr7:12729298..12731295-chr7:12733837..12736086,2	MCF-7	breast:
19	chr7:12732805..12735607-chr7:12848862..12851491,2	K562	blood:
20	chr7:12741433..12743635-chr7:12747314..12748891,2	MCF-7	breast:
21	chr7:12732885..12735761-chr7:12786840..12788734,2	K562	blood:

Variant related genes	Relation type
ENSG00000199470	TF binding region
ENSG00000199470	CpG island
ENSG00000271253	chromatin interactions
ENSG00000122644	chromatin interactions

Extended variants
information (count: 688 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:688 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10261142	chr7:12733808-12733809	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548729136	chr7:12733810-12733811	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs531683261	chr7:12733817-12733818	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs548300815	chr7:12733856-12733857	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs568506864	chr7:12733883-12733884	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs534056169	chr7:12733913-12733914	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs76500919	chr7:12733928-12733929	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs570703025	chr7:12734002-12734003	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs201937962	chr7:12734007-12734008	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs34127019	chr7:12734008-12734009	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs397826344	chr7:12734010-12734011	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs201575272	chr7:12734013-12734014	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs373208217	chr7:12734019-12734020	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs539693423	chr7:12734035-12734036	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs556394207	chr7:12734048-12734049	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs576675623	chr7:12734080-12734081	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs541777812	chr7:12734126-12734127	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs555092801	chr7:12734134-12734135	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs10277284	chr7:12734231-12734232	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs191169502	chr7:12734320-12734321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564208638	chr7:12734333-12734334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545085116	chr7:12734348-12734349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183262081	chr7:12734368-12734369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188742044	chr7:12734454-12734455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368591530	chr7:12734499-12734500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563532480	chr7:12734545-12734546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12533880	chr7:12734574-12734575	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs149704789	chr7:12734575-12734576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111306957	chr7:12734600-12734601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191421694	chr7:12734610-12734611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs55909982	chr7:12734615-12734616	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs367557132	chr7:12734623-12734624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73678548	chr7:12734642-12734643	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs574065783	chr7:12734647-12734648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539850789	chr7:12734653-12734654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116414964	chr7:12734680-12734681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs62449786	chr7:12734683-12734684	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs183633269	chr7:12734718-12734719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371691908	chr7:12734774-12734775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188162710	chr7:12734879-12734880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556056915	chr7:12734892-12734893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370545026	chr7:12734953-12734954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555478239	chr7:12734983-12734984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191591102	chr7:12735004-12735005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560922675	chr7:12735019-12735020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147378680	chr7:12735064-12735065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139515250	chr7:12735150-12735151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11979049	chr7:12735232-12735233	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs114970426	chr7:12735299-12735300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543498091	chr7:12735319-12735320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12728000-12734000	Weak transcription	Primary B cells from cord blood	blood
2	chr7:12729000-12734600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:12730200-12739000	Weak transcription	Placenta	Placenta
4	chr7:12730200-12740200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:12730400-12734600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:12730400-12735200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:12730400-12735200	Weak transcription	Stomach Mucosa	stomach
8	chr7:12730400-12735400	Weak transcription	Fetal Intestine Small	intestine
9	chr7:12730600-12734400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:12730600-12734600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:12730600-12734800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:12730600-12735400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:12730800-12734000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:12730800-12734000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:12730800-12734000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:12730800-12735400	Weak transcription	Fetal Intestine Large	intestine
17	chr7:12730800-12735400	Weak transcription	NHEK	skin
18	chr7:12730800-12746600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:12731000-12735400	Weak transcription	HMEC	breast
20	chr7:12731200-12740400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:12732000-12735000	Weak transcription	Small Intestine	intestine
22	chr7:12732400-12735600	Weak transcription	A549	lung
23	chr7:12732800-12734600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr7:12732800-12735400	Weak transcription	HUVEC	blood vessel
25	chr7:12733200-12734200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:12733400-12737000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:12733800-12734200	Active TSS	K562	blood
28	chr7:12733800-12735000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr7:12733800-12736600	Enhancers	Hela-S3	cervix
30	chr7:12734000-12734600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr7:12734000-12734800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr7:12734000-12734800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr7:12734200-12734400	Weak transcription	K562	blood
34	chr7:12734400-12734800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr7:12734400-12735000	Enhancers	K562	blood
36	chr7:12734400-12735400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr7:12734600-12734800	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr7:12734600-12735600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr7:12734600-12736600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:12734800-12735400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr7:12734800-12740600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:12735000-12735200	Enhancers	Small Intestine	intestine
43	chr7:12735000-12738600	Weak transcription	K562	blood
44	chr7:12735200-12735600	Weak transcription	Small Intestine	intestine
45	chr7:12735200-12736000	Enhancers	Stomach Mucosa	stomach
46	chr7:12735200-12736600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:12735400-12735600	Enhancers	HUVEC	blood vessel
48	chr7:12735400-12735800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:12735400-12736200	Enhancers	Fetal Intestine Small	intestine
50	chr7:12735400-12736200	Enhancers	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links