Variant report

Variant	nsv1033704
Chromosome Location	chr7:12286225-12355773
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:12249029..12251264-chr7:12355308..12358122,2	MCF-7	breast:
2	chr7:12248340..12250610-chr7:12341759..12344659,2	K562	blood:
3	chr7:12304154..12306342-chr7:12308310..12310160,2	K562	blood:
4	chr7:12326033..12327864-chr7:12530775..12532531,2	K562	blood:
5	chr7:12333884..12336168-chr7:12337724..12340459,4	K562	blood:
6	chr7:12249110..12251929-chr7:12341759..12344024,2	K562	blood:
7	chr7:12353391..12355072-chr7:12357011..12359494,3	K562	blood:
8	chr7:12297657..12300131-chr7:12305646..12308026,2	K562	blood:
9	chr7:12237104..12239270-chr7:12329420..12331412,2	K562	blood:
10	chr7:12351255..12355072-chr7:12355211..12359779,5	K562	blood:
11	chr7:12354059..12356452-chr7:12416852..12418898,2	K562	blood:
12	chr7:12333884..12336168-chr7:12337724..12340459,4	K562	blood:
13	chr7:12297657..12300131-chr7:12305646..12308026,2	K562	blood:
14	chr7:12254720..12256765-chr7:12287281..12288945,2	K562	blood:
15	chr7:12311161..12313996-chr7:12317609..12319933,2	K562	blood:
16	chr7:12249722..12251364-chr7:12307905..12310601,2	MCF-7	breast:
17	chr7:12311161..12313996-chr7:12317609..12319933,2	K562	blood:
18	chr7:12351255..12355072-chr7:12355211..12359779,5	K562	blood:
19	chr7:12319256..12322046-chr7:12323185..12326325,3	K562	blood:
20	chr7:12304154..12306342-chr7:12308310..12310160,2	K562	blood:
21	chr7:12106833..12107747-chr7:12331137..12332178,5	MCF-7	breast:
22	chr7:12319256..12322046-chr7:12323185..12326325,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000106460	chromatin interactions

Extended variants
information (count: 2706 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2706 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1548882	chr7:12286225-12286226	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567002890	chr7:12286235-12286236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538748332	chr7:12286241-12286242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569204756	chr7:12286253-12286254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185699073	chr7:12286276-12286277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190208036	chr7:12286285-12286286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181911064	chr7:12286307-12286308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536963782	chr7:12286313-12286314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540934899	chr7:12286354-12286355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6945902	chr7:12286409-12286410	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs574382822	chr7:12286410-12286411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573756278	chr7:12286481-12286482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542852524	chr7:12286505-12286506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552880429	chr7:12286511-12286512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112744123	chr7:12286520-12286521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73677575	chr7:12286532-12286533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs73677576	chr7:12286535-12286536	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs186108303	chr7:12286590-12286591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544933327	chr7:12286616-12286617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561520177	chr7:12286617-12286618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116563977	chr7:12286635-12286636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141309080	chr7:12286641-12286642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566936684	chr7:12286654-12286655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115975346	chr7:12286663-12286664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10225421	chr7:12286682-12286683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs147413299	chr7:12286687-12286688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371343562	chr7:12286703-12286704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537800382	chr7:12286727-12286728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77489622	chr7:12286747-12286748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370066363	chr7:12286748-12286749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs398072971	chr7:12286750-12286751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554539521	chr7:12286782-12286783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374669919	chr7:12286819-12286820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567589313	chr7:12286843-12286844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73290007	chr7:12286872-12286873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs139639359	chr7:12286932-12286933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572920790	chr7:12286935-12286936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12699339	chr7:12286943-12286944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs190086909	chr7:12286965-12286966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143571813	chr7:12286999-12287000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369295011	chr7:12287012-12287013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544272375	chr7:12287059-12287060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560713590	chr7:12287060-12287061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566468190	chr7:12287062-12287063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77164303	chr7:12287197-12287198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181347393	chr7:12287263-12287264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147169669	chr7:12287267-12287268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17165803	chr7:12287278-12287279	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs552255512	chr7:12287289-12287290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs55723871	chr7:12287298-12287299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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 ductal adenocarcinoma	19077451	CNVD
Multiple myeloma	17550852	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:205 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12271800-12289000	Weak transcription	HSMM	muscle
2	chr7:12280000-12295000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr7:12289000-12289200	Enhancers	HSMM	muscle
4	chr7:12289200-12289600	Weak transcription	HSMM	muscle
5	chr7:12289200-12290000	Enhancers	HSMMtube	muscle
6	chr7:12289600-12290200	Enhancers	HSMM	muscle
7	chr7:12295000-12295200	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr7:12295000-12296000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:12295000-12296000	Enhancers	A549	lung
10	chr7:12295000-12296800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr7:12295000-12296800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr7:12295200-12295600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr7:12295200-12296600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr7:12295200-12297000	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr7:12295400-12296200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:12295400-12296800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:12295600-12296800	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr7:12295800-12296200	Enhancers	HSMM	muscle
19	chr7:12296000-12296400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:12296000-12297000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr7:12296000-12297000	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr7:12296000-12297000	Weak transcription	A549	lung
23	chr7:12296200-12297000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:12296200-12297000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr7:12296400-12296800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:12296600-12297200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:12296600-12297200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr7:12296800-12297000	Enhancers	Primary T cells fromperipheralblood	blood
29	chr7:12296800-12297000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:12296800-12297000	Enhancers	Colonic Mucosa	Colon
31	chr7:12296800-12297000	Enhancers	Dnd41	blood
32	chr7:12296800-12297200	Enhancers	Primary B cells from cord blood	blood
33	chr7:12296800-12297200	Enhancers	Primary T cells from cord blood	blood
34	chr7:12296800-12297400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr7:12296800-12297600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr7:12296800-12297800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:12296800-12298000	Flanking Active TSS	GM12878-XiMat	blood
38	chr7:12296800-12298200	Enhancers	Primary B cells from peripheral blood	blood
39	chr7:12296800-12298200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr7:12296800-12298200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr7:12297000-12297200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:12297000-12297200	Active TSS	Adipose Nuclei	Adipose
43	chr7:12297000-12297200	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr7:12297000-12297200	Enhancers	A549	lung
45	chr7:12297000-12297200	Active TSS	Monocytes-CD14+_RO01746	blood
46	chr7:12297000-12297400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr7:12297000-12297400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr7:12297000-12297400	Active TSS	K562	blood
49	chr7:12297000-12297600	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr7:12297000-12297800	Active TSS	Primary T cells fromperipheralblood	blood

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