Variant report

Variant	nsv608419
Chromosome Location	chr7:128980494-128996268
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	chr7:128982402-128982453	K562	blood:	n/a	chr7:128982418-128982434
2	ARID3A	chr7:128982985-128983364	K562	blood:	n/a	n/a
3	ARID3A	chr7:128982968-128983261	HepG2	liver:	n/a	n/a
4	ARID3A	chr7:128984209-128984480	K562	blood:	n/a	n/a
5	ARID3A	chr7:128987012-128987248	HepG2	liver:	n/a	n/a
6	ATF1	chr7:128984183-128984541	K562	blood:	n/a	n/a
7	ATF1	chr7:128991126-128991426	K562	blood:	n/a	n/a
8	ATF2	chr7:128984172-128984609	GM12878	blood:	n/a	n/a
9	ATF2	chr7:128984136-128984711	GM12878	blood:	n/a	n/a
10	ATF3	chr7:128991051-128991505	K562	blood:	n/a	n/a
11	BATF	chr7:128984225-128984625	GM12878	blood:	n/a	chr7:128984431-128984441
12	BATF	chr7:128984312-128984658	GM12878	blood:	n/a	chr7:128984431-128984441
13	BCL11A	chr7:128984212-128984594	GM12878	blood:	n/a	n/a
14	BCLAF1	chr7:128984164-128984722	GM12878	blood:	n/a	n/a
15	BHLHE40	chr7:128984260-128984549	GM12878	blood:	n/a	n/a
16	BRCA1	chr7:128991231-128991248	Hela-S3	cervix:	n/a	n/a
17	CCNT2	chr7:128983981-128984158	K562	blood:	n/a	n/a
18	CEBPB	chr7:128993059-128993301	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr7:128984233-128984537	IMR90	lung:	n/a	n/a
20	CEBPB	chr7:128991086-128991441	IMR90	lung:	n/a	n/a
21	CEBPB	chr7:128991229-128991328	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr7:128993167-128993336	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr7:128993049-128993358	IMR90	lung:	n/a	n/a
24	CHD1	chr7:128984366-128984588	GM12878	blood:	n/a	n/a
25	CHD1	chr7:128983972-128984025	GM12878	blood:	n/a	n/a
26	CHD2	chr7:128984307-128984601	GM12878	blood:	n/a	n/a
27	CREB1	chr7:128991079-128991519	GM12878	blood:	n/a	n/a
28	CREB1	chr7:128991045-128991511	GM12878	blood:	n/a	n/a
29	CTCF	chr7:128983040-128983190	GM12865	blood:	n/a	chr7:128983107-128983125 chr7:128983109-128983130 chr7:128983110-128983123 chr7:128983112-128983120 chr7:128983108-128983124
30	CTCF	chr7:128983040-128983190	MCF-7	breast:	n/a	chr7:128983107-128983125 chr7:128983109-128983130 chr7:128983110-128983123 chr7:128983112-128983120 chr7:128983108-128983124
31	CTCF	chr7:128982989-128983175	SK-N-SH_RA	brain:	n/a	chr7:128983107-128983125 chr7:128983109-128983130 chr7:128983110-128983123 chr7:128983112-128983120 chr7:128983108-128983124
32	CTCF	chr7:128983040-128983190	GM12878	blood:	n/a	chr7:128983107-128983125 chr7:128983109-128983130 chr7:128983110-128983123 chr7:128983112-128983120 chr7:128983108-128983124
33	CTCF	chr7:128982940-128983090	HVMF	connective:	n/a	n/a
34	CTCF	chr7:128983020-128983170	HUVEC	blood vessel:	n/a	chr7:128983107-128983125 chr7:128983109-128983130 chr7:128983110-128983123 chr7:128983112-128983120 chr7:128983108-128983124
35	CTCF	chr7:128983009-128983182	GM20000	blood:	n/a	chr7:128983107-128983125 chr7:128983109-128983130 chr7:128983110-128983123 chr7:128983112-128983120 chr7:128983108-128983124
36	CTCF	chr7:128983060-128983210	GM12866	blood:	n/a	chr7:128983107-128983125 chr7:128983109-128983130 chr7:128983110-128983123 chr7:128983112-128983120 chr7:128983108-128983124
37	CTCF	chr7:128982980-128983130	GM12869	blood:	n/a	chr7:128983107-128983125 chr7:128983109-128983130 chr7:128983110-128983123 chr7:128983112-128983120 chr7:128983108-128983124
38	CTCF	chr7:128982932-128983244	A549	lung:	n/a	chr7:128983107-128983125 chr7:128983109-128983130 chr7:128983110-128983123 chr7:128983112-128983120 chr7:128983108-128983124
39	CTCF	chr7:128983060-128983210	Hela-S3	cervix:	n/a	chr7:128983107-128983125 chr7:128983109-128983130 chr7:128983110-128983123 chr7:128983112-128983120 chr7:128983108-128983124
40	CTCF	chr7:128983080-128983230	AG04450	lung:	n/a	chr7:128983107-128983125 chr7:128983109-128983130 chr7:128983110-128983123 chr7:128983112-128983120 chr7:128983108-128983124
41	CTCF	chr7:128983067-128983123	A549	lung:	n/a	chr7:128983110-128983123 chr7:128983112-128983120
42	CTCF	chr7:128983060-128983210	NHDF-neo	bronchial:	n/a	chr7:128983107-128983125 chr7:128983109-128983130 chr7:128983110-128983123 chr7:128983112-128983120 chr7:128983108-128983124
43	CTCF	chr7:128983060-128983210	GM12873	blood:	n/a	chr7:128983107-128983125 chr7:128983109-128983130 chr7:128983110-128983123 chr7:128983112-128983120 chr7:128983108-128983124
44	CTCF	chr7:128982980-128983130	GM12873	blood:	n/a	chr7:128983107-128983125 chr7:128983109-128983130 chr7:128983110-128983123 chr7:128983112-128983120 chr7:128983108-128983124
45	CTCF	chr7:128983023-128983203	HepG2	liver:	n/a	chr7:128983107-128983125 chr7:128983109-128983130 chr7:128983110-128983123 chr7:128983112-128983120 chr7:128983108-128983124
46	CTCF	chr7:128982940-128983090	HFF-Myc	foreskin:	n/a	n/a
47	CTCF	chr7:128983060-128983210	RPTEC	kidney:	n/a	chr7:128983107-128983125 chr7:128983109-128983130 chr7:128983110-128983123 chr7:128983112-128983120 chr7:128983108-128983124
48	CTCF	chr7:128983020-128983170	HVMF	connective:	n/a	chr7:128983107-128983125 chr7:128983109-128983130 chr7:128983110-128983123 chr7:128983112-128983120 chr7:128983108-128983124
49	CTCF	chr7:128983000-128983150	GM12872	blood:	n/a	chr7:128983107-128983125 chr7:128983109-128983130 chr7:128983110-128983123 chr7:128983112-128983120 chr7:128983108-128983124
50	CTCF	chr7:128983060-128983210	GM12872	blood:	n/a	chr7:128983107-128983125 chr7:128983109-128983130 chr7:128983110-128983123 chr7:128983112-128983120 chr7:128983108-128983124

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:128981604-128981654	HAEpiC	amniotic membrane:	n/a
2	chr7:128981604-128981654	AG10803	skin:	n/a
3	chr7:128981604-128981654	GM12892	blood:	n/a
4	chr7:128981604-128981654	Caco-2	colon:	n/a
5	chr7:128981604-128981654	ovcar-3	ovarian:	n/a
6	chr7:128981604-128981654	HRE	kidney:	n/a
7	chr7:128981604-128981654	ProgFib	skin:	n/a
8	chr7:128981604-128981654	Jurkat	blood:	n/a
9	chr7:128981604-128981654	HIPEpiC	eye:	n/a
10	chr7:128981604-128981654	HCT-116	colon:	n/a
11	chr7:128981604-128981654	NH-A	brain:	n/a
12	chr7:128981604-128981654	AG04449	skin:	fetal
13	chr7:128981604-128981654	MCF10A-Er-Src	breast:	n/a
14	chr7:128981604-128981654	HUVEC	blood vessel:	n/a
15	chr7:128981604-128981654	BJ	skin:	n/a
16	chr7:128981604-128981654	K562	blood:	n/a
17	chr7:128981604-128981654	Hela-S3	cervix:	n/a
18	chr7:128981604-128981654	GM12878	blood:	n/a
19	chr7:128981604-128981654	NHDF-neo	bronchial:	n/a
20	chr7:128981604-128981654	BE2_C	brain:	n/a
21	chr7:128981604-128981654	PANC-1	pancreas:	n/a
22	chr7:128981604-128981654	AoSMC	blood vessel:	n/a
23	chr7:128981604-128981654	HRPEpiC	eye:	n/a
24	chr7:128981604-128981654	HCM	heart:	n/a
25	chr7:128981604-128981654	HCPEpiC	choroid plexus:	n/a
26	chr7:128981604-128981654	GM06990	blood:	n/a
27	chr7:128981604-128981654	PrEC	prostate:	n/a
28	chr7:128981604-128981654	HRCEpiC	kidney:	n/a
29	chr7:128981604-128981654	HL-60	blood:	n/a
30	chr7:128981604-128981654	RPTEC	kidney:	n/a
31	chr7:128981604-128981654	GM12891	blood:	n/a
32	chr7:128981604-128981654	ECC-1	luminal epithelium:	n/a
33	chr7:128981604-128981654	SAEC	small airway:	n/a
34	chr7:128981604-128981654	U87	brain:	n/a
35	chr7:128981604-128981654	HEK293	kidney:	embryo
36	chr7:128981604-128981654	NB4	blood:	n/a
37	chr7:128981604-128981654	AG09309	skin:	n/a
38	chr7:128981604-128981654	SK-N-SH_RA	brain:	n/a
39	chr7:128981604-128981654	MCF-7	breast:	n/a
40	chr7:128981604-128981654	HPAEpiC	pulmonary alveolar:	n/a
41	chr7:128981604-128981654	PFSK-1	brain:	n/a
42	chr7:128981604-128981654	IMR90	lung:	fetal
43	chr7:128981604-128981654	HCF	heart:	n/a
44	chr7:128981604-128981654	NT2-D1	testis:	n/a
45	chr7:128981604-128981654	AG09319	gingival:	n/a
46	chr7:128981604-128981654	SKMC	muscle:	n/a
47	chr7:128981604-128981654	NHBE	bronchial:	n/a
48	chr7:128981604-128981654	HMEC	breast:	n/a
49	chr7:128981604-128981654	H1-hESC	embryonic stem cell:	embryo
50	chr7:128981604-128981654	SK-N-SH	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:128978589..128981283-chr7:128984289..128985895,2	K562	blood:
2	chr7:128984621..128985408-chr7:129111176..129112056,2	K562	blood:
3	chr7:128983075..128983596-chr7:129073345..129074183,2	MCF-7	breast:
4	chr7:128985892..128988176-chr7:128997822..129000706,2	K562	blood:
5	chr7:128991162..128992900-chr7:128993006..128994974,2	MCF-7	breast:
6	chr7:128982855..128983578-chr7:129010405..129011207,3	MCF-7	breast:
7	chr7:128982645..128983957-chr7:129275105..129276110,6	K562	blood:
8	chr7:128978589..128981283-chr7:128984289..128985895,2	K562	blood:
9	chr7:128993154..128999533-chr7:128999673..129003390,7	K562	blood:
10	chr7:128983034..128983886-chr7:129469504..129470107,2	K562	blood:
11	chr7:128982629..128983170-chr7:129465243..129465885,2	K562	blood:
12	chr7:128976778..128978294-chr7:128981817..128983573,2	K562	blood:
13	chr7:128858102..128859038-chr7:128983045..128983580,2	K562	blood:
14	chr7:128982143..128983570-chr7:129015770..129017016,4	K562	blood:
15	chr7:128980529..128982455-chr7:129080074..129082232,2	K562	blood:
16	chr7:128993154..128995879-chr7:128999673..129002595,3	K562	blood:
17	chr7:128980076..128982455-chr7:129080732..129082646,2	K562	blood:
18	chr7:128982680..128983639-chr7:129284199..129284830,3	K562	blood:
19	chr7:128982386..128983886-chr7:129016195..129016993,6	MCF-7	breast:
20	chr7:128992325..128994144-chr7:129008256..129010083,2	K562	blood:
21	chr7:128982637..128983529-chr7:129111824..129112749,5	K562	blood:
22	chr7:128982814..128983603-chr7:129111827..129112905,5	MCF-7	breast:
23	chr7:128982663..128983472-chr7:129111736..129112397,2	MCF-7	breast:

Variant related genes	Relation type
AHCYL2	TF binding region
AHCYL2	CpG island
ENSG00000158467	chromatin interactions

Extended variants
information (count: 532 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:532 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4517061	chr7:128980494-128980495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542698616	chr7:128980497-128980498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554670476	chr7:128980525-128980526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564567057	chr7:128980547-128980548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200261861	chr7:128980548-128980549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs72435658	chr7:128980549-128980550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs80051278	chr7:128980552-128980553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112999126	chr7:128980590-128980591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544033799	chr7:128980593-128980594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565347287	chr7:128980598-128980599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550410453	chr7:128980610-128980611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138968397	chr7:128980617-128980618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541380749	chr7:128980728-128980729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559354952	chr7:128980780-128980781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10954227	chr7:128980805-128980806	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs140698647	chr7:128980817-128980818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111740841	chr7:128980857-128980858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574635419	chr7:128980885-128980886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377611525	chr7:128980931-128980932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184399569	chr7:128980989-128980990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552305486	chr7:128981008-128981009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570576776	chr7:128981025-128981026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534885024	chr7:128981102-128981103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546525145	chr7:128981103-128981104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565717200	chr7:128981124-128981125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536293200	chr7:128981140-128981141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554633642	chr7:128981170-128981171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370140183	chr7:128981178-128981179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576087440	chr7:128981227-128981228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149558643	chr7:128981280-128981281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144255423	chr7:128981345-128981346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577379441	chr7:128981369-128981370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566577962	chr7:128981383-128981384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs36058920	chr7:128981408-128981409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188209106	chr7:128981423-128981424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560115688	chr7:128981464-128981465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181091572	chr7:128981484-128981485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35552948	chr7:128981587-128981588	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs372921689	chr7:128981593-128981594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566398306	chr7:128981625-128981626	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs185481494	chr7:128981690-128981691	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs190337742	chr7:128981698-128981699	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs181534730	chr7:128981704-128981705	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs148324908	chr7:128981711-128981712	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs564291595	chr7:128981749-128981750	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs528305231	chr7:128981797-128981798	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs546484552	chr7:128981821-128981822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141471793	chr7:128981827-128981828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375863570	chr7:128981873-128981874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548132060	chr7:128981874-128981875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Retinitis pigmentosa	17160897	CNVD
Colorblindness	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Congenital diaphragmatic hernia	21525063	CNVD

Chromatin state (count:202 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128958000-128981000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:128964200-128981000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr7:128964600-128981000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr7:128965200-128984200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:128965400-128994600	Weak transcription	Primary B cells from cord blood	blood
6	chr7:128965800-128980800	Weak transcription	Fetal Intestine Small	intestine
7	chr7:128965800-128995800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr7:128972600-128981200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr7:128972800-128984000	Weak transcription	HSMMtube	muscle
10	chr7:128972800-128984200	Weak transcription	HSMM	muscle
11	chr7:128973200-128984000	Weak transcription	NHEK	skin
12	chr7:128973400-128991000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:128973600-128982800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:128975000-129002600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:128975800-128980800	Weak transcription	Primary T cells from cord blood	blood
16	chr7:128978400-128981000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:128979600-128985800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:128979600-128991400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:128980600-128981800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr7:128980600-128982000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr7:128980600-128982000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr7:128980600-128982200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr7:128980600-128982600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr7:128980600-128982600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr7:128980600-128982600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr7:128980600-128982800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr7:128980800-128981600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:128980800-128981600	Enhancers	Primary T cells from cord blood	blood
29	chr7:128980800-128981800	Enhancers	Dnd41	blood
30	chr7:128980800-128983400	Enhancers	Fetal Intestine Large	intestine
31	chr7:128980800-128983400	Enhancers	Fetal Intestine Small	intestine
32	chr7:128981000-128981200	Enhancers	GM12878-XiMat	blood
33	chr7:128981000-128981400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:128981000-128981400	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr7:128981000-128981600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr7:128981000-128981600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr7:128981000-128981600	Enhancers	Small Intestine	intestine
38	chr7:128981000-128981800	Enhancers	H9 Cell Line	embryonic stem cell
39	chr7:128981000-128982000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr7:128981000-128982200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:128981000-128982600	Enhancers	Duodenum Mucosa	Duodenum
42	chr7:128981000-128984600	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr7:128981200-128981400	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr7:128981200-128981400	Enhancers	A549	lung
45	chr7:128981200-128981600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr7:128981200-128981600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:128981200-128981600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:128981200-128981600	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr7:128981200-128981800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr7:128981200-128981800	Enhancers	Colonic Mucosa	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links