Variant report

Variant	nsv1026908
Chromosome Location	chr7:12944128-12959702
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:12729465..12731915-chr7:12953468..12955831,4	K562	blood:
2	chr7:12724922..12727661-chr7:12949470..12951778,2	K562	blood:
3	chr7:12753829..12756201-chr7:12954275..12956490,2	K562	blood:
4	chr7:12941736..12945870-chr7:12950835..12954445,3	K562	blood:
5	chr7:12947440..12949017-chr7:12950414..12952410,2	K562	blood:
6	chr7:12724061..12726495-chr7:12959611..12962564,2	K562	blood:
7	chr7:12956747..12959826-chr7:12966112..12968954,4	K562	blood:
8	chr7:12941736..12945870-chr7:12950835..12954445,3	K562	blood:
9	chr7:12952382..12954094-chr7:12985590..12988388,2	K562	blood:
10	chr7:12946651..12949444-chr7:12952675..12955185,2	K562	blood:
11	chr7:12954698..12957510-chr7:12961987..12963789,2	K562	blood:
12	chr7:12947440..12949017-chr7:12950414..12952410,2	K562	blood:
13	chr7:12788529..12790029-chr7:12952812..12954749,2	K562	blood:
14	chr7:12946651..12949444-chr7:12952675..12955185,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230879	chromatin interactions
ENSG00000271253	chromatin interactions
ENSG00000122644	chromatin interactions

Extended variants
information (count: 809 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:809 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530070349	chr7:12944157-12944158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs117547012	chr7:12944165-12944166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536134578	chr7:12944170-12944171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113734478	chr7:12944195-12944196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190545771	chr7:12944197-12944198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113244899	chr7:12944202-12944203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557802774	chr7:12944205-12944206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577425565	chr7:12944250-12944251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570126908	chr7:12944255-12944256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543168285	chr7:12944300-12944301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375918920	chr7:12944340-12944341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563139822	chr7:12944352-12944353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529191598	chr7:12944372-12944373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182835673	chr7:12944387-12944388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185664567	chr7:12944389-12944390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368531207	chr7:12944407-12944408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537940619	chr7:12944425-12944426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73299215	chr7:12944437-12944438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs371410677	chr7:12944467-12944468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570910002	chr7:12944484-12944485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374735075	chr7:12944500-12944501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552717986	chr7:12944520-12944521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533460509	chr7:12944600-12944601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111899887	chr7:12944606-12944607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550434517	chr7:12944622-12944623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535004553	chr7:12944628-12944629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570245201	chr7:12944633-12944634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535803775	chr7:12944653-12944654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555999215	chr7:12944691-12944692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35975307	chr7:12944695-12944696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397889881	chr7:12944696-12944697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs398003696	chr7:12944697-12944698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568393891	chr7:12944707-12944708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565556967	chr7:12944717-12944718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147956275	chr7:12944738-12944739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73061978	chr7:12944751-12944752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs189872786	chr7:12944752-12944753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145212157	chr7:12944757-12944758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543105408	chr7:12944762-12944763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111354434	chr7:12944776-12944777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564233860	chr7:12944825-12944826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556764343	chr7:12944827-12944828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573472483	chr7:12944858-12944859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145014027	chr7:12944863-12944864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149103116	chr7:12944864-12944865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527685802	chr7:12944920-12944921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76903964	chr7:12944921-12944922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374632454	chr7:12944933-12944934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564463127	chr7:12944935-12944936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs80280785	chr7:12944972-12944973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12941800-12950800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:12942000-12948800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:12947200-12947600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:12947600-12949000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:12948800-12950000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:12948800-12950000	Enhancers	HMEC	breast
7	chr7:12948800-12951000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:12948800-12952000	Enhancers	NHEK	skin
9	chr7:12949000-12949800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:12949800-12950800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:12950000-12950800	Weak transcription	HMEC	breast
12	chr7:12950000-12951800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:12950800-12951000	Enhancers	HMEC	breast
14	chr7:12950800-12951200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:12950800-12951400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr7:12951000-12951600	Weak transcription	HMEC	breast
17	chr7:12951000-12951800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:12951200-12961600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:12951400-12951800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:12951600-12951800	Enhancers	HMEC	breast
21	chr7:12951800-12952000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:12951800-12952800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:12951800-12953000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr7:12952000-12952600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:12952600-12952800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:12952600-12953200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:12952600-12953400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:12952600-12954200	Enhancers	K562	blood
29	chr7:12952800-12953000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:12953200-12953800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:12953800-12954000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:12954000-12954200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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