Variant report

Variant	nsv830992
Chromosome Location	chr7:48497408-48686442
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	chr7:48672196-48672569	K562	blood:	n/a	n/a
2	ARID3A	chr7:48672197-48672568	HepG2	liver:	n/a	n/a
3	ATF1	chr7:48677125-48677363	K562	blood:	n/a	n/a
4	ATF1	chr7:48683091-48683338	K562	blood:	n/a	n/a
5	ATF1	chr7:48672195-48672569	K562	blood:	n/a	n/a
6	BACH1	chr7:48677071-48677315	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr7:48672197-48672570	K562	blood:	n/a	n/a
8	BATF	chr7:48677066-48677322	GM12878	blood:	n/a	chr7:48677196-48677206 chr7:48677199-48677210
9	BATF	chr7:48677111-48677301	GM12878	blood:	n/a	chr7:48677196-48677206 chr7:48677199-48677210
10	BCL11A	chr7:48672210-48672432	GM12878	blood:	n/a	n/a
11	BCL3	chr7:48577214-48577487	GM12878	blood:	n/a	n/a
12	BCL3	chr7:48537205-48537464	GM12878	blood:	n/a	n/a
13	BHLHE40	chr7:48577377-48577423	K562	blood:	n/a	n/a
14	BHLHE40	chr7:48672195-48672571	K562	blood:	n/a	n/a
15	BHLHE40	chr7:48672197-48672568	GM12878	blood:	n/a	n/a
16	BHLHE40	chr7:48683128-48683313	K562	blood:	n/a	n/a
17	BHLHE40	chr7:48673799-48674063	GM12878	blood:	n/a	n/a
18	BHLHE40	chr7:48657146-48657489	HepG2	liver:	n/a	n/a
19	BHLHE40	chr7:48577258-48577504	HepG2	liver:	n/a	n/a
20	BRCA1	chr7:48672196-48672570	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr7:48672197-48672569	GM12878	blood:	n/a	n/a
22	CBX3	chr7:48576932-48577164	K562	blood:	n/a	n/a
23	CEBPB	chr7:48600216-48600545	HepG2	liver:	n/a	chr7:48600368-48600379
24	CEBPB	chr7:48600193-48600550	IMR90	lung:	n/a	chr7:48600368-48600379
25	CEBPB	chr7:48664720-48665017	HepG2	liver:	n/a	chr7:48664864-48664875
26	CEBPB	chr7:48545495-48545834	HepG2	liver:	n/a	chr7:48545643-48545654
27	CEBPB	chr7:48600301-48600472	H1-hESC	embryonic stem cell:	n/a	chr7:48600368-48600379
28	CEBPB	chr7:48683116-48683308	K562	blood:	n/a	chr7:48683267-48683278 chr7:48683262-48683279 chr7:48683267-48683278 chr7:48683265-48683278 chr7:48683265-48683276
29	CEBPB	chr7:48546971-48547149	HepG2	liver:	n/a	chr7:48547003-48547014 chr7:48547001-48547012 chr7:48547003-48547014 chr7:48547001-48547014
30	CEBPB	chr7:48666622-48666857	IMR90	lung:	n/a	n/a
31	CEBPB	chr7:48582468-48582673	HepG2	liver:	n/a	chr7:48582639-48582650 chr7:48582558-48582569 chr7:48582639-48582650
32	CEBPB	chr7:48498646-48499135	MCF-7	breast:	n/a	chr7:48498891-48498904
33	CEBPB	chr7:48498776-48499010	A549	lung:	n/a	chr7:48498891-48498904
34	CEBPB	chr7:48510603-48510792	H1-hESC	embryonic stem cell:	n/a	chr7:48510656-48510667 chr7:48510656-48510665 chr7:48510654-48510665
35	CEBPB	chr7:48672199-48672570	K562	blood:	n/a	n/a
36	CEBPB	chr7:48578259-48578532	HepG2	liver:	n/a	chr7:48578360-48578371
37	CEBPB	chr7:48683113-48683457	HepG2	liver:	n/a	chr7:48683267-48683278 chr7:48683296-48683309 chr7:48683262-48683279 chr7:48683267-48683278 chr7:48683265-48683278 chr7:48683265-48683276
38	CEBPB	chr7:48600242-48600540	K562	blood:	n/a	chr7:48600368-48600379
39	CEBPB	chr7:48531253-48531488	HepG2	liver:	n/a	chr7:48531357-48531368 chr7:48531357-48531370
40	CEBPB	chr7:48660571-48660885	HepG2	liver:	n/a	chr7:48660713-48660724 chr7:48660715-48660726 chr7:48660715-48660724
41	CEBPB	chr7:48498813-48499028	HepG2	liver:	n/a	chr7:48498891-48498904
42	CEBPB	chr7:48660560-48660854	A549	lung:	n/a	chr7:48660713-48660724 chr7:48660715-48660726 chr7:48660715-48660724
43	CEBPB	chr7:48660547-48660851	IMR90	lung:	n/a	chr7:48660713-48660724 chr7:48660715-48660726 chr7:48660715-48660724
44	CEBPB	chr7:48500568-48500665	A549	lung:	n/a	chr7:48500623-48500634
45	CEBPB	chr7:48660707-48660769	K562	blood:	n/a	chr7:48660713-48660724 chr7:48660715-48660726 chr7:48660715-48660724
46	CEBPB	chr7:48578272-48578544	H1-hESC	embryonic stem cell:	n/a	chr7:48578360-48578371
47	CEBPB	chr7:48510520-48510805	HepG2	liver:	n/a	chr7:48510656-48510667 chr7:48510656-48510665 chr7:48510654-48510665
48	CEBPB	chr7:48510492-48510812	K562	blood:	n/a	chr7:48510656-48510667 chr7:48510656-48510665 chr7:48510654-48510665
49	CEBPB	chr7:48666572-48666889	HepG2	liver:	n/a	n/a
50	CEBPB	chr7:48664704-48665008	IMR90	lung:	n/a	chr7:48664864-48664875

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:48685182-48685232	AG09309	skin:	n/a
2	chr7:48685182-48685232	AG09309	skin:	n/a
3	chr7:48552817-48552867	HNPCEpiC	eye:	n/a
4	chr7:48579509-48579559	IMR90	lung:	fetal
5	chr7:48579509-48579559	BE2_C	brain:	n/a
6	chr7:48552817-48552867	HUVEC	blood vessel:	n/a
7	chr7:48552817-48552867	LNCaP	prostate:	n/a
8	chr7:48676611-48676661	HAEpiC	amniotic membrane:	n/a
9	chr7:48579509-48579559	HMEC	breast:	n/a
10	chr7:48676611-48676661	A549	lung:	n/a
11	chr7:48676611-48676661	HCT-116	colon:	n/a
12	chr7:48552817-48552867	GM12892	blood:	n/a
13	chr7:48685182-48685232	HEK293	kidney:	embryo
14	chr7:48579509-48579559	HEEpiC	esophagus:	n/a
15	chr7:48676611-48676661	SKMC	muscle:	n/a
16	chr7:48676611-48676661	GM12892	blood:	n/a
17	chr7:48685182-48685232	GM12891	blood:	n/a
18	chr7:48552817-48552867	HRE	kidney:	n/a
19	chr7:48552817-48552867	ProgFib	skin:	n/a
20	chr7:48685182-48685232	NHBE	bronchial:	n/a
21	chr7:48676611-48676661	NHDF-neo	bronchial:	n/a
22	chr7:48685182-48685232	GM12878	blood:	n/a
23	chr7:48676611-48676661	HRPEpiC	eye:	n/a
24	chr7:48685182-48685232	K562	blood:	n/a
25	chr7:48676611-48676661	HEEpiC	esophagus:	n/a
26	chr7:48579509-48579559	AG10803	skin:	n/a
27	chr7:48579509-48579559	Jurkat	blood:	n/a
28	chr7:48685182-48685232	BE2_C	brain:	n/a
29	chr7:48685182-48685232	AG04449	skin:	fetal
30	chr7:48552817-48552867	SKMC	muscle:	n/a
31	chr7:48579509-48579559	HEK293	kidney:	embryo
32	chr7:48552817-48552867	HEEpiC	esophagus:	n/a
33	chr7:48685182-48685232	MCF10A-Er-Src	breast:	n/a
34	chr7:48552817-48552867	GM19239	blood:	n/a
35	chr7:48685182-48685232	HRE	kidney:	n/a
36	chr7:48579509-48579559	HCT-116	colon:	n/a
37	chr7:48552817-48552867	MCF10A-Er-Src	breast:	n/a
38	chr7:48552817-48552867	NHBE	bronchial:	n/a
39	chr7:48676611-48676661	NHBE	bronchial:	n/a
40	chr7:48579509-48579559	T-47D	breast:	n/a
41	chr7:48685182-48685232	GM19239	blood:	n/a
42	chr7:48676611-48676661	HRE	kidney:	n/a
43	chr7:48552817-48552867	PrEC	prostate:	n/a
44	chr7:48552817-48552867	HepG2	liver:	n/a
45	chr7:48676611-48676661	H1-hESC	embryonic stem cell:	embryo
46	chr7:48685182-48685232	PrEC	prostate:	n/a
47	chr7:48579509-48579559	Hela-S3	cervix:	n/a
48	chr7:48579509-48579559	AG09309	skin:	n/a
49	chr7:48579509-48579559	HepG2	liver:	n/a
50	chr7:48579509-48579559	ProgFib	skin:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:48546224..48548443-chr7:48555422..48558329,2	MCF-7	breast:
2	chr7:48513865..48515812-chr7:49402658..49405453,2	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ABCA13	hsa-miR-148b-3p	chr7:48682925-48682946

Variant related genes	Relation type
ABCA13	TF binding region
ABCA13	CpG island
ENSG00000179869	chromatin interactions

Extended variants
information (count: 6725 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:6725 , 50 per page) page: 1 2 3 4 5 6 7 ... 135

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35883160	chr7:48497524-48497525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10267753	chr7:48497567-48497568	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs554680074	chr7:48497575-48497576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10256255	chr7:48497604-48497605	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs528418218	chr7:48497756-48497757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541700067	chr7:48497760-48497761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561766836	chr7:48497767-48497768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530695665	chr7:48497775-48497776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369747485	chr7:48497780-48497781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570877053	chr7:48497797-48497798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs57870688	chr7:48497804-48497805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186553251	chr7:48497851-48497852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34240082	chr7:48497886-48497887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147804729	chr7:48497922-48497923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566867027	chr7:48497935-48497936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536182528	chr7:48498010-48498011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1433500	chr7:48498019-48498020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs569374799	chr7:48498041-48498042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1975193	chr7:48498051-48498052	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs1975194	chr7:48498074-48498075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs576912596	chr7:48498220-48498221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545490640	chr7:48498238-48498239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531185923	chr7:48498284-48498285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572490692	chr7:48498300-48498301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541736442	chr7:48498329-48498330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561987215	chr7:48498392-48498393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs3906662	chr7:48498446-48498447	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs549338707	chr7:48498452-48498453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564114259	chr7:48498457-48498458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576696491	chr7:48498458-48498459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533509935	chr7:48498600-48498601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190117367	chr7:48498655-48498656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs3916019	chr7:48498670-48498671	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs564971692	chr7:48498725-48498726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529279268	chr7:48498733-48498734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139032538	chr7:48498744-48498745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541842825	chr7:48498746-48498747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569495906	chr7:48498768-48498769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35345934	chr7:48498778-48498779	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs551998110	chr7:48498783-48498784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181808576	chr7:48498799-48498800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539183550	chr7:48498812-48498813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552614382	chr7:48498815-48498816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7799752	chr7:48498845-48498846	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs367975280	chr7:48498846-48498847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376391378	chr7:48498880-48498881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370953893	chr7:48498942-48498943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535036560	chr7:48498945-48498946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555384151	chr7:48499005-48499006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575532232	chr7:48499047-48499048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:123)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	17237825	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Abnormal phenotypes	18644119	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:492 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48468000-48500000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:48495000-48498400	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr7:48495200-48503200	Weak transcription	Spleen	Spleen
4	chr7:48496400-48498200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:48498200-48499200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr7:48498400-48498800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:48498400-48499400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr7:48498400-48499400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr7:48498800-48499600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:48498800-48500200	Enhancers	HMEC	breast
11	chr7:48499200-48499400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
12	chr7:48499400-48503200	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr7:48499600-48500000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:48499800-48500200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:48500000-48500200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:48500000-48502400	Strong transcription	Primary hematopoietic stem cells	blood
17	chr7:48500200-48503200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:48501200-48503200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:48502400-48503200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr7:48502600-48503200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:48502800-48503200	Weak transcription	Fetal Kidney	kidney
22	chr7:48503000-48503200	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr7:48503200-48503400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:48503200-48503400	ZNF genes & repeats	K562	blood
25	chr7:48503200-48503600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:48503200-48503600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
27	chr7:48503200-48503600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
28	chr7:48503200-48503600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
29	chr7:48503200-48503600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr7:48503200-48503600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
31	chr7:48503200-48503600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
32	chr7:48503200-48503600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr7:48503200-48503600	ZNF genes & repeats	Brain Angular Gyrus	brain
34	chr7:48503200-48503600	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:48503200-48503600	ZNF genes & repeats	Brain Substantia Nigra	brain
36	chr7:48503200-48503600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr7:48503200-48503600	ZNF genes & repeats	Fetal Brain Male	brain
38	chr7:48503200-48503600	ZNF genes & repeats	Fetal Heart	heart
39	chr7:48503200-48503600	ZNF genes & repeats	Fetal Kidney	kidney
40	chr7:48503200-48503600	Bivalent Enhancer	Pancreatic Islets	Pancreatic Islet
41	chr7:48503200-48503600	ZNF genes & repeats	Fetal Lung	lung
42	chr7:48503200-48503600	ZNF genes & repeats	Spleen	Spleen
43	chr7:48503400-48503600	Bivalent/Poised TSS	NHDF-Ad	bronchial
44	chr7:48503600-48504000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr7:48503600-48504200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr7:48503600-48504600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr7:48503600-48505200	Weak transcription	Fetal Lung	lung
48	chr7:48503600-48506400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr7:48503600-48509000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr7:48503600-48514200	Weak transcription	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links