Variant report

Variant	nsv971141
Chromosome Location	chr7:108229374-108235129
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	chr7:108233166-108233366	K562	blood:	n/a	n/a
2	ATF2	chr7:108234122-108234469	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr7:108233228-108233462	K562	blood:	n/a	n/a
4	BHLHE40	chr7:108230380-108230706	K562	blood:	n/a	n/a
5	CEBPB	chr7:108234615-108234641	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr7:108233300-108233450	HMF	breast:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
7	CTCF	chr7:108233280-108233430	HCT-116	colon:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
8	CTCF	chr7:108233320-108233470	HepG2	liver:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
9	CTCF	chr7:108233260-108233410	GM12871	blood:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
10	CTCF	chr7:108233300-108233450	HCPEpiC	choroid plexus:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
11	CTCF	chr7:108233340-108233490	HCM	heart:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
12	CTCF	chr7:108233320-108233470	HVMF	connective:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
13	CTCF	chr7:108233300-108233450	HPAF	blood vessel:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
14	CTCF	chr7:108233260-108233410	RPTEC	kidney:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
15	CTCF	chr7:108233280-108233430	HMF	breast:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
16	CTCF	chr7:108233260-108233410	GM12874	blood:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
17	CTCF	chr7:108233241-108233462	Gliobla	brain:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
18	CTCF	chr7:108233300-108233450	AG10803	skin:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
19	CTCF	chr7:108233253-108233456	LNCaP	prostate:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
20	CTCF	chr7:108233240-108233390	BE2_C	brain:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
21	CTCF	chr7:108233226-108233467	K562	blood:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
22	CTCF	chr7:108233100-108233250	HCM	heart:	n/a	n/a
23	CTCF	chr7:108233240-108233390	BJ	skin:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
24	CTCF	chr7:108233252-108233458	LNCaP	prostate:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
25	CTCF	chr7:108233240-108233390	GM12871	blood:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
26	CTCF	chr7:108233300-108233450	HAc	cerebellar:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
27	CTCF	chr7:108233300-108233450	GM12869	blood:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
28	CTCF	chr7:108233197-108233493	SK-N-SH_RA	brain:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
29	CTCF	chr7:108233260-108233410	NHLF	lung:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
30	CTCF	chr7:108233240-108233390	GM12865	blood:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
31	CTCF	chr7:108233164-108233542	GM12878	blood:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
32	CTCF	chr7:108233240-108233390	AoAF	blood vessel:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
33	CTCF	chr7:108233008-108233870	SK-N-SH	brain:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
34	CTCF	chr7:108233258-108233454	MCF-7	breast:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
35	CTCF	chr7:108233259-108233453	GM12878	blood:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
36	CTCF	chr7:108233306-108233404	Pancreas_OC	pancreas:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
37	CTCF	chr7:108233159-108233507	K562	blood:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
38	CTCF	chr7:108233260-108233410	GM12872	blood:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
39	CTCF	chr7:108233300-108233450	HRPEpiC	eye:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
40	CTCF	chr7:108233232-108233481	MCF-7	breast:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
41	CTCF	chr7:108233280-108233430	AG04450	lung:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
42	CTCF	chr7:108233214-108233489	MCF-7	breast:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
43	CTCF	chr7:108233300-108233450	HepG2	liver:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
44	CTCF	chr7:108233280-108233430	HPF	lung:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
45	CTCF	chr7:108233242-108233453	Kidney_OC	kidney:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
46	CTCF	chr7:108233260-108233410	HPF	lung:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
47	CTCF	chr7:108233229-108233472	K562	blood:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
48	CTCF	chr7:108233280-108233430	NHDF-neo	bronchial:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
49	CTCF	chr7:108233267-108233452	NHEK	skin:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358
50	CTCF	chr7:108233320-108233470	AoAF	blood vessel:	n/a	chr7:108233348-108233361 chr7:108233347-108233368 chr7:108233350-108233358

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:108233442-108233492	HIPEpiC	eye:	n/a
2	chr7:108233442-108233492	HRCEpiC	kidney:	n/a
3	chr7:108233442-108233492	ECC-1	luminal epithelium:	n/a
4	chr7:108233442-108233492	GM12891	blood:	n/a
5	chr7:108233442-108233492	PANC-1	pancreas:	n/a
6	chr7:108233442-108233492	PrEC	prostate:	n/a
7	chr7:108233442-108233492	MCF-7	breast:	n/a
8	chr7:108233442-108233492	SK-N-SH_RA	brain:	n/a
9	chr7:108233442-108233492	SKMC	muscle:	n/a
10	chr7:108233442-108233492	Hela-S3	cervix:	n/a
11	chr7:108233442-108233492	A549	lung:	n/a
12	chr7:108233442-108233492	Caco-2	colon:	n/a
13	chr7:108233442-108233492	T-47D	breast:	n/a
14	chr7:108233442-108233492	ProgFib	skin:	n/a
15	chr7:108233442-108233492	HUVEC	blood vessel:	n/a
16	chr7:108233442-108233492	NH-A	brain:	n/a
17	chr7:108233442-108233492	AG09319	gingival:	n/a
18	chr7:108233442-108233492	PFSK-1	brain:	n/a
19	chr7:108233442-108233492	LNCaP	prostate:	n/a
20	chr7:108233442-108233492	HNPCEpiC	eye:	n/a
21	chr7:108233442-108233492	IMR90	lung:	fetal
22	chr7:108233442-108233492	BJ	skin:	n/a
23	chr7:108233442-108233492	BE2_C	brain:	n/a
24	chr7:108233442-108233492	NHBE	bronchial:	n/a
25	chr7:108233442-108233492	HL-60	blood:	n/a
26	chr7:108233442-108233492	HAEpiC	amniotic membrane:	n/a
27	chr7:108233442-108233492	NHDF-neo	bronchial:	n/a
28	chr7:108233442-108233492	U87	brain:	n/a
29	chr7:108233442-108233492	HepG2	liver:	n/a
30	chr7:108233442-108233492	HEK293	kidney:	embryo
31	chr7:108233442-108233492	H1-hESC	embryonic stem cell:	embryo
32	chr7:108233442-108233492	Jurkat	blood:	n/a
33	chr7:108233442-108233492	AG04449	skin:	fetal
34	chr7:108233442-108233492	AoSMC	blood vessel:	n/a
35	chr7:108233442-108233492	GM19239	blood:	n/a
36	chr7:108233442-108233492	MCF10A-Er-Src	breast:	n/a
37	chr7:108233442-108233492	Hepatocyte	liver:	n/a
38	chr7:108233442-108233492	AG09309	skin:	n/a
39	chr7:108233442-108233492	SAEC	small airway:	n/a
40	chr7:108233442-108233492	NB4	blood:	n/a
41	chr7:108233442-108233492	ovcar-3	ovarian:	n/a
42	chr7:108233442-108233492	AG10803	skin:	n/a
43	chr7:108233442-108233492	CMK	blood:	n/a
44	chr7:108233442-108233492	K562	blood:	n/a
45	chr7:108233442-108233492	GM12878	blood:	n/a
46	chr7:108233442-108233492	GM12892	blood:	n/a
47	chr7:108233442-108233492	AG04450	lung:	fetal
48	chr7:108233442-108233492	HMEC	breast:	n/a
49	chr7:108233442-108233492	RPTEC	kidney:	n/a
50	chr7:108233442-108233492	HCPEpiC	choroid plexus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:108227640..108230200-chr7:108238851..108241841,2	K562	blood:
2	chr7:108227203..108229469-chr7:108231716..108234476,2	K562	blood:
3	chr7:108230124..108232941-chr7:108244344..108247256,2	K562	blood:
4	chr7:108222887..108224453-chr7:108229527..108232044,2	K562	blood:
5	chr7:108233449..108234949-chr7:108238405..108241266,2	K562	blood:
6	chr7:108213141..108217464-chr7:108225107..108230596,8	K562	blood:
7	chr7:108208745..108211666-chr7:108231357..108233651,2	K562	blood:
8	chr7:108232912..108233506-chr7:108456271..108456944,3	MCF-7	breast:
9	chr7:108234971..108237051-chr7:108243040..108246034,2	K562	blood:
10	chr7:108232224..108233774-chr7:108238643..108240941,2	MCF-7	breast:
11	chr7:108215196..108217245-chr7:108232389..108235110,2	K562	blood:
12	chr7:108227203..108229469-chr7:108231716..108234476,2	K562	blood:
13	chr7:108216877..108218879-chr7:108232237..108234477,2	MCF-7	breast:
14	chr7:108219591..108221299-chr7:108232211..108234837,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225647	TF binding region
ENSG00000225647	CpG island
ENSG00000135241	chromatin interactions
ENSG00000128590	chromatin interactions
ENSG00000225647	chromatin interactions
ENSG00000177683	chromatin interactions

Extended variants
information (count: 237 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:237 , 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	rs112842796	chr7:108229401-108229402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111983385	chr7:108229413-108229414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116002282	chr7:108229537-108229538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35918987	chr7:108229554-108229555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558682388	chr7:108229555-108229556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149095801	chr7:108229578-108229579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs386716685	chr7:108229589-108229590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147859881	chr7:108229590-108229591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62467898	chr7:108229611-108229612	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs542961175	chr7:108229647-108229648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562853060	chr7:108229648-108229649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77631916	chr7:108229673-108229674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555144153	chr7:108229691-108229692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372563449	chr7:108229715-108229716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551703335	chr7:108229777-108229778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571895930	chr7:108229806-108229807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111370090	chr7:108229815-108229816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116844254	chr7:108229829-108229830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192892996	chr7:108229846-108229847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535870490	chr7:108229871-108229872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556083210	chr7:108229893-108229894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74914931	chr7:108229897-108229898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528994317	chr7:108229898-108229899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369697384	chr7:108229909-108229910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538756891	chr7:108229929-108229930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184290668	chr7:108230021-108230022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187445637	chr7:108230035-108230036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537900622	chr7:108230049-108230050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373117592	chr7:108230062-108230063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147293665	chr7:108230095-108230096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554447508	chr7:108230115-108230116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146937392	chr7:108230129-108230130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542673242	chr7:108230167-108230168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116973244	chr7:108230176-108230177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531585405	chr7:108230189-108230190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545517867	chr7:108230201-108230202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577310455	chr7:108230223-108230224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75270960	chr7:108230258-108230259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563010692	chr7:108230316-108230317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76762199	chr7:108230373-108230374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113270831	chr7:108230456-108230457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192246353	chr7:108230458-108230459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530382410	chr7:108230482-108230483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549530996	chr7:108230485-108230486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569669912	chr7:108230504-108230505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149429842	chr7:108230525-108230526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539818558	chr7:108230592-108230593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184765076	chr7:108230696-108230697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377425881	chr7:108230701-108230702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190662697	chr7:108230705-108230706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108216400-108229400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:108223000-108233200	Weak transcription	Small Intestine	intestine
3	chr7:108225000-108230400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:108225200-108229800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:108226800-108230400	Weak transcription	Right Atrium	heart
6	chr7:108228000-108230000	Weak transcription	Fetal Heart	heart
7	chr7:108229200-108234400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:108229400-108230000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:108229400-108230600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:108229800-108230000	Enhancers	NHEK	skin
11	chr7:108229800-108230600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:108229800-108230600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:108229800-108230600	Enhancers	HMEC	breast
14	chr7:108229800-108234000	Enhancers	Fetal Intestine Small	intestine
15	chr7:108230000-108230400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:108230000-108230800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:108230000-108230800	Enhancers	Fetal Heart	heart
18	chr7:108230000-108230800	Enhancers	HSMM	muscle
19	chr7:108230000-108230800	Enhancers	HSMMtube	muscle
20	chr7:108230000-108231200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:108230000-108234000	Enhancers	Fetal Intestine Large	intestine
22	chr7:108230200-108230400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr7:108230200-108230600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:108230200-108230800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:108230200-108231000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:108230400-108230600	Enhancers	Right Atrium	heart
27	chr7:108230400-108230800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr7:108230400-108231200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:108230400-108233200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:108230800-108231200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:108230800-108233000	Weak transcription	Fetal Heart	heart
32	chr7:108230800-108233400	Weak transcription	HSMMtube	muscle
33	chr7:108230800-108233800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:108231000-108231400	Enhancers	HepG2	liver
35	chr7:108231000-108232200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:108231200-108233400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr7:108231200-108233400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:108232200-108232400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:108232400-108232800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr7:108232600-108233600	Enhancers	Brain Germinal Matrix	brain
41	chr7:108232800-108235200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:108233000-108233800	Enhancers	Fetal Heart	heart
43	chr7:108233000-108234200	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr7:108233000-108234400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr7:108233200-108233600	Enhancers	Liver	Liver
46	chr7:108233200-108234200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr7:108233200-108234200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr7:108233200-108234200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:108233200-108234600	Enhancers	Fetal Brain Male	brain
50	chr7:108233200-108234800	Enhancers	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links