Variant report

Variant	nsv606192
Chromosome Location	chr7:10854493-10928142
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:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:101368678..101369358-chr7:10860703..10861283,2	MCF-7	breast:
2	chr2:153036711..153037231-chr7:10882214..10882734,2	Hela-S3	cervix:
3	chr3:73159945..73160606-chr7:10881714..10882734,5	HCT-116	colon:
4	chr7:10903152..10905363-chr7:10907278..10909562,2	K562	blood:
5	chr7:10827906..10830733-chr7:10877571..10879129,2	K562	blood:
6	chr7:10890558..10893396-chr7:10897220..10900177,2	K562	blood:
7	chr7:10852219..10854827-chr7:10860395..10863241,2	K562	blood:
8	chr11:62608722..62609639-chr7:10881714..10882234,2	NB4	blood:
9	chr7:10909984..10911612-chr7:10912737..10914507,2	K562	blood:
10	chr15:44829060..44829617-chr7:10881734..10882714,2	Hela-S3	cervix:
11	chr7:10795591..10798221-chr7:10854575..10857146,3	K562	blood:
12	chr10:103124241..103125130-chr7:10881734..10882714,2	Hela-S3	cervix:
13	chr7:10894501..10896559-chr7:10899480..10902122,4	K562	blood:
14	chr7:10852190..10855109-chr7:10857378..10860919,3	K562	blood:
15	chr7:10903152..10905363-chr7:10907278..10909562,2	K562	blood:
16	chr7:10909984..10911612-chr7:10912737..10914507,2	K562	blood:
17	chr2:192281175..192282695-chr7:10880714..10882234,2	K562	blood:
18	chr7:10903863..10905750-chr7:10907380..10909562,2	K562	blood:
19	chr7:10890558..10893396-chr7:10897220..10900177,2	K562	blood:
20	chr7:10910112..10911906-chr7:10912737..10915573,2	K562	blood:
21	chr5:16464666..16467634-chr7:10878203..10880591,2	MCF-7	breast:
22	chr7:10903863..10905750-chr7:10907380..10909562,2	K562	blood:
23	chr3:73160069..73160628-chr7:10881734..10882714,3	Hela-S3	cervix:
24	chr7:10852190..10855109-chr7:10857378..10860919,3	K562	blood:
25	chr17:41463316..41465702-chr7:10880714..10882234,3	K562	blood:
26	chr17:41464178..41467384-chr7:10880714..10882234,4	K562	blood:
27	chr7:10852219..10854827-chr7:10860395..10863241,2	K562	blood:
28	chr7:10908452..10910556-chr7:11019934..11022818,2	K562	blood:
29	chr7:10910112..10911906-chr7:10912737..10915573,2	K562	blood:
30	chr7:10894501..10896559-chr7:10899480..10902122,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000188825	chromatin interactions
ENSG00000173545	chromatin interactions
ENSG00000104131	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000179523	chromatin interactions
ENSG00000222414	chromatin interactions

Extended variants
information (count: 732 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570218624	chr7:10865420-10865421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574910805	chr7:10865519-10865520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6954024	chr7:10865554-10865555	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs10274493	chr7:10865582-10865583	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs144232183	chr7:10865591-10865592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544653603	chr7:10865621-10865622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558134271	chr7:10865667-10865668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564532604	chr7:10865693-10865694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575189985	chr7:10865703-10865704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544159051	chr7:10865731-10865732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188580186	chr7:10865739-10865740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192343340	chr7:10865746-10865747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73678198	chr7:10865758-10865759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs547080716	chr7:10865776-10865777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs80201535	chr7:10865777-10865778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144502079	chr7:10865789-10865790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73678199	chr7:10865797-10865798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6954121	chr7:10865816-10865817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs574603480	chr7:10865841-10865842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538556172	chr7:10865872-10865873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548569355	chr7:10865898-10865899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568651475	chr7:10865900-10865901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71550869	chr7:10865917-10865918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147409329	chr7:10865961-10865962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540141312	chr7:10865977-10865978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553945262	chr7:10865978-10865979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560360894	chr7:10866027-10866028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538332780	chr7:10866044-10866045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558158840	chr7:10866057-10866058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575103542	chr7:10866107-10866108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544511316	chr7:10866108-10866109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560984485	chr7:10866112-10866113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530957837	chr7:10866157-10866158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574577714	chr7:10866226-10866227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201532643	chr7:10866275-10866276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs386710260	chr7:10866278-10866279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369132139	chr7:10866281-10866282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540100080	chr7:10866302-10866303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188706878	chr7:10866303-10866304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11983424	chr7:10866337-10866338	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs377170627	chr7:10866359-10866360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139633453	chr7:10866380-10866381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113149933	chr7:10866385-10866386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562889934	chr7:10866388-10866389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180671355	chr7:10866396-10866397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78491353	chr7:10866429-10866430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568709387	chr7:10866483-10866484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527980820	chr7:10866494-10866495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547620481	chr7:10866507-10866508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570691501	chr7:10866512-10866513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:10865400-10865600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:10865600-10871800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:10875000-10875600	Active TSS	Brain Anterior Caudate	brain
4	chr7:10894400-10894600	Active TSS	Gastric	stomach
5	chr7:10894600-10895400	Weak transcription	Gastric	stomach
6	chr7:10895200-10895600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:10895200-10895600	Enhancers	Esophagus	oesophagus
8	chr7:10895400-10895600	Active TSS	Gastric	stomach
9	chr7:10899800-10900600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:10900000-10900200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr7:10900000-10900400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr7:10900000-10900600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:10900000-10900600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr7:10900000-10900600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:10900000-10900600	Enhancers	NHEK	skin
16	chr7:10900000-10900800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr7:10900200-10900600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr7:10900200-10900600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr7:10910000-10910800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr7:10910400-10910800	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr7:10913000-10913200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:10913200-10914200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:10914200-10915200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:10927800-10929200	Enhancers	Primary T cells from cord blood	blood
25	chr7:10928000-10929000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:10928000-10929200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr7:10928000-10929200	Enhancers	Primary T helper cells fromperipheralblood	blood

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