Variant report

Variant	nsv1025233
Chromosome Location	chr7:17143351-17196857
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:17166582..17168256-chr7:17172777..17175258,2	K562	blood:
2	chr7:17166582..17168256-chr7:17172777..17175258,2	K562	blood:
3	chr7:17187339..17189140-chr7:17189260..17191952,2	K562	blood:
4	chr7:17168106..17170746-chr7:17337084..17338784,2	MCF-7	breast:
5	chr7:17187103..17188839-chr7:17190242..17191952,2	K562	blood:
6	chr7:17187339..17189140-chr7:17189260..17191952,2	K562	blood:
7	chr7:17170396..17172452-chr7:17178036..17180401,2	MCF-7	breast:
8	chr7:17172304..17174827-chr7:17192186..17193688,2	MCF-7	breast:
9	chr7:17177869..17180663-chr7:17182407..17185712,4	MCF-7	breast:
10	chr7:17164984..17168606-chr7:17170506..17172201,3	K562	blood:
11	chr7:17172856..17174534-chr7:17177183..17178818,2	K562	blood:
12	chr7:17174176..17175703-chr7:17181460..17183811,2	MCF-7	breast:
13	chr7:17172585..17174356-chr7:17177183..17179182,2	K562	blood:
14	chr7:17187103..17188839-chr7:17190242..17191952,2	K562	blood:
15	chr7:17172304..17174827-chr7:17192186..17193688,2	MCF-7	breast:
16	chr7:17167106..17169974-chr7:17169977..17172043,2	K562	blood:
17	chr7:17170011..17170749-chr7:17197590..17198136,2	MCF-7	breast:
18	chr7:17167106..17169974-chr7:17169977..17172043,2	K562	blood:
19	chr7:17136133..17137910-chr7:17145966..17147609,2	MCF-7	breast:
20	chr7:17172585..17174356-chr7:17177183..17179182,2	K562	blood:
21	chr7:17177869..17180663-chr7:17182407..17185712,4	MCF-7	breast:
22	chr7:17164984..17168606-chr7:17170506..17172201,3	K562	blood:
23	chr7:17170396..17172452-chr7:17178036..17180401,2	MCF-7	breast:
24	chr7:17172856..17174534-chr7:17177183..17178818,2	K562	blood:
25	chr7:17174176..17175703-chr7:17181460..17183811,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000237773	chromatin interactions
ENSG00000106546	chromatin interactions

Extended variants
information (count: 1987 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1987 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12673569	chr7:17143351-17143352	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560787087	chr7:17143366-17143367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370309000	chr7:17143376-17143377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531360279	chr7:17143385-17143386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543337932	chr7:17143429-17143430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148921133	chr7:17143496-17143497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532292663	chr7:17143549-17143550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547399864	chr7:17143573-17143574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35580818	chr7:17143602-17143603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565538418	chr7:17143614-17143615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145707004	chr7:17143658-17143659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548268041	chr7:17143659-17143660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11983121	chr7:17143672-17143673	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs181206805	chr7:17143688-17143689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552919707	chr7:17143724-17143725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186056681	chr7:17143739-17143740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190471024	chr7:17143746-17143747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557439010	chr7:17143782-17143783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553376379	chr7:17143794-17143795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117467906	chr7:17143832-17143833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183282968	chr7:17143837-17143838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577308004	chr7:17143838-17143839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187556710	chr7:17143865-17143866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112803937	chr7:17143919-17143920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191118082	chr7:17143935-17143936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575850131	chr7:17143956-17143957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543250546	chr7:17143958-17143959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113318063	chr7:17144002-17144003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10233878	chr7:17144007-17144008	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs540960152	chr7:17144023-17144024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182436788	chr7:17144038-17144039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187808532	chr7:17144041-17144042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548326171	chr7:17144060-17144061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563337652	chr7:17144061-17144062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530605849	chr7:17144116-17144117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192763665	chr7:17144143-17144144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570952030	chr7:17144162-17144163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141363850	chr7:17144249-17144250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73681858	chr7:17144256-17144257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568441706	chr7:17144273-17144274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543322183	chr7:17144320-17144321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531839154	chr7:17144347-17144348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559767836	chr7:17144374-17144375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573279388	chr7:17144387-17144388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377521176	chr7:17144397-17144398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117929027	chr7:17144459-17144460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117371099	chr7:17144556-17144557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184135703	chr7:17144565-17144566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576923159	chr7:17144570-17144571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145106876	chr7:17144676-17144677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	22495309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:667 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17140400-17151200	Weak transcription	Stomach Mucosa	stomach
2	chr7:17142000-17143400	Enhancers	HepG2	liver
3	chr7:17142000-17143600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:17142600-17143400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr7:17142600-17143400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr7:17142600-17143800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:17143200-17147400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:17143600-17147800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:17144800-17145000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:17145000-17146000	Enhancers	Hela-S3	cervix
11	chr7:17145400-17146000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:17145400-17146000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:17145600-17145800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:17145600-17146000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:17146000-17147600	Weak transcription	Hela-S3	cervix
16	chr7:17146000-17148800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:17146000-17149800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:17147400-17148200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:17147600-17148000	Enhancers	GM12878-XiMat	blood
20	chr7:17147600-17150400	Enhancers	Hela-S3	cervix
21	chr7:17147800-17148200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr7:17148000-17148400	Active TSS	GM12878-XiMat	blood
23	chr7:17148600-17149000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:17148600-17149000	Enhancers	A549	lung
25	chr7:17148600-17149200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr7:17148600-17149200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr7:17148600-17149200	Enhancers	NH-A	brain
28	chr7:17148600-17149400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:17148800-17149000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:17148800-17149000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:17148800-17149200	Enhancers	HMEC	breast
32	chr7:17148800-17149200	Enhancers	NHDF-Ad	bronchial
33	chr7:17148800-17149200	Enhancers	NHEK	skin
34	chr7:17148800-17149200	Enhancers	Osteobl	bone
35	chr7:17149000-17150000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:17149200-17150200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:17149800-17151200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:17150000-17150200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:17150200-17150400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr7:17151200-17151600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:17151200-17151600	Enhancers	Stomach Mucosa	stomach
42	chr7:17155600-17156800	Enhancers	HUVEC	blood vessel
43	chr7:17156000-17156400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:17156000-17156400	Enhancers	NHEK	skin
45	chr7:17157200-17158600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr7:17157200-17159400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr7:17157200-17159400	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr7:17157400-17158600	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr7:17157400-17159000	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr7:17157400-17159200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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