Variant report

Variant	nsv470044
Chromosome Location	chr7:12392897-12434771
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:12390586..12393212-chr7:12394959..12396886,2	K562	blood:
2	chr7:12398772..12400728-chr7:12416119..12417972,2	K562	blood:
3	chr7:12399201..12400947-chr7:12402626..12404166,2	K562	blood:
4	chr7:12392619..12394669-chr7:12398215..12400869,2	K562	blood:
5	chr7:12402068..12405586-chr7:12406959..12410606,5	K562	blood:
6	chr7:12391914..12394742-chr7:12414391..12416688,2	K562	blood:
7	chr7:12408674..12410212-chr7:12426957..12428907,2	K562	blood:
8	chr7:12391134..12392692-chr7:12402911..12404517,2	K562	blood:
9	chr7:12399201..12400947-chr7:12402626..12404166,2	K562	blood:
10	chr7:12391712..12393347-chr7:12394959..12396471,2	K562	blood:
11	chr7:12250726..12252615-chr7:12403379..12404987,2	MCF-7	breast:
12	chr7:12401550..12404872-chr7:12410854..12415444,4	K562	blood:
13	chr7:12408712..12411098-chr7:12427407..12429029,2	K562	blood:
14	chr7:12428677..12429434-chr7:12476625..12477415,2	K562	blood:
15	chr7:12414352..12417133-chr7:12443944..12445537,2	K562	blood:
16	chr7:12426277..12428963-chr7:12530535..12533181,2	K562	blood:
17	chr7:12391712..12393347-chr7:12394959..12396471,2	K562	blood:
18	chr7:12354059..12356452-chr7:12416852..12418898,2	K562	blood:
19	chr7:12408799..12410708-chr7:12417249..12418833,2	K562	blood:
20	chr7:12408799..12410708-chr7:12417249..12418833,2	K562	blood:
21	chr7:12398772..12400728-chr7:12416119..12417972,2	K562	blood:
22	chr7:12401893..12405448-chr7:12416442..12419735,3	K562	blood:
23	chr7:12422294..12424938-chr7:12449157..12451879,2	K562	blood:
24	chr7:12391914..12394742-chr7:12414391..12416688,2	K562	blood:
25	chr7:12363684..12366465-chr7:12393124..12396040,2	K562	blood:
26	chr7:12390586..12393212-chr7:12394959..12396886,2	K562	blood:
27	chr4:173623488..173624406-chr7:12420850..12421512,2	MCF-7	breast:
28	chr7:12408712..12411098-chr7:12427407..12429029,2	K562	blood:
29	chr7:12401550..12404872-chr7:12410854..12415444,4	K562	blood:
30	chr7:12421246..12422799-chr7:12438154..12440817,2	K562	blood:
31	chr7:12428351..12429175-chr7:12529458..12530800,4	MCF-7	breast:
32	chr7:12402068..12405586-chr7:12406959..12410606,5	K562	blood:
33	chr7:12423183..12428504-chr7:12441656..12445145,7	K562	blood:
34	chr7:12389607..12392285-chr7:12392419..12394302,2	K562	blood:
35	chr7:12356830..12359604-chr7:12404989..12406571,2	K562	blood:
36	chr7:12401893..12405448-chr7:12416442..12419735,3	K562	blood:
37	chr7:12392619..12394669-chr7:12398215..12400869,2	K562	blood:
38	chr7:12408674..12410212-chr7:12426957..12428907,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000106460	chromatin interactions
ENSG00000203523	chromatin interactions
ENSG00000146530	chromatin interactions

Extended variants
information (count: 1821 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1821 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10249315	chr7:12392897-12392898	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs10262986	chr7:12392986-12392987	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs536080470	chr7:12393002-12393003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549629428	chr7:12393009-12393010	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566129079	chr7:12393013-12393014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143588288	chr7:12393017-12393018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181958822	chr7:12393030-12393031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs56938645	chr7:12393046-12393047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs397969109	chr7:12393052-12393053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs386710420	chr7:12393053-12393054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs60277316	chr7:12393054-12393055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10233818	chr7:12393068-12393069	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs145871228	chr7:12393109-12393110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148212383	chr7:12393115-12393116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534754235	chr7:12393176-12393177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541697868	chr7:12393256-12393257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs67559494	chr7:12393268-12393269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs398094832	chr7:12393271-12393272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7809990	chr7:12393310-12393311	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs186991140	chr7:12393313-12393314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371201724	chr7:12393317-12393318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556239059	chr7:12393320-12393321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10215258	chr7:12393339-12393340	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs191784532	chr7:12393343-12393344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532957877	chr7:12393349-12393350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111263378	chr7:12393359-12393360	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183638229	chr7:12393402-12393403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529650116	chr7:12393459-12393460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs66779646	chr7:12393511-12393512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397705125	chr7:12393514-12393515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551023902	chr7:12393517-12393518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113564084	chr7:12393588-12393589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs17182597	chr7:12393595-12393596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
34	rs538828874	chr7:12393606-12393607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528629401	chr7:12393622-12393623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10215266	chr7:12393645-12393646	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs4719306	chr7:12393656-12393657	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs4721091	chr7:12393661-12393662	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs573485183	chr7:12393668-12393669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556964329	chr7:12393699-12393700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567304230	chr7:12393739-12393740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535399204	chr7:12393756-12393757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555327192	chr7:12393850-12393851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576770028	chr7:12393862-12393863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6944618	chr7:12393966-12393967	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs6944626	chr7:12393974-12393975	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs187153021	chr7:12393999-12394000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79132050	chr7:12394022-12394023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150714577	chr7:12394034-12394035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528895444	chr7:12394045-12394046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:209 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12354400-12405000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:12368200-12433200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:12377000-12408000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:12380600-12393400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:12381800-12429000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:12383400-12401800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:12385400-12395200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:12385600-12418000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:12390000-12420600	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:12390200-12393000	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:12390800-12401000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:12391600-12393000	Genic enhancers	K562	blood
13	chr7:12392200-12393000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:12392200-12401800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:12392400-12393400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:12392400-12395600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:12392800-12394000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:12392800-12395800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr7:12393000-12395400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:12393000-12401400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:12393000-12406000	Strong transcription	K562	blood
22	chr7:12393400-12401000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr7:12393400-12401200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:12394000-12408000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:12395200-12397600	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr7:12395400-12402400	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:12395600-12397800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:12395800-12397200	Strong transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr7:12397200-12418000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr7:12397600-12408200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:12397800-12398600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:12398200-12398800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr7:12398600-12401800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:12399600-12400000	Enhancers	Fetal Heart	heart
35	chr7:12401000-12405400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr7:12401000-12405400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:12401200-12405800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr7:12401400-12405200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:12401800-12403200	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr7:12401800-12408200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:12401800-12409200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:12402400-12405600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr7:12403200-12418000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr7:12403200-12422200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr7:12405000-12406400	Strong transcription	Primary hematopoietic stem cells	blood
46	chr7:12405200-12406800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:12405400-12405800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr7:12405400-12410400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr7:12405600-12407200	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr7:12405800-12408600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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