Variant report

Variant	nsv1020652
Chromosome Location	chr7:13167453-13258217
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:31)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:12725963..12728528-chr7:13221189..13225092,3	K562	blood:
2	chr7:13134342..13136300-chr7:13222418..13225299,2	MCF-7	breast:
3	chr7:13212799..13215585-chr7:13218700..13220945,2	K562	blood:
4	chr7:13211183..13213197-chr7:13214894..13216654,2	K562	blood:
5	chr7:12725278..12725831-chr7:13218360..13219347,3	MCF-7	breast:
6	chr7:13180182..13182648-chr7:13184471..13186941,2	K562	blood:
7	chr7:13255952..13258351-chr7:13261908..13263917,2	K562	blood:
8	chr7:13256179..13258568-chr7:13261397..13264714,3	K562	blood:
9	chr7:12726743..12727464-chr7:13218413..13219282,2	MCF-7	breast:
10	chr7:12727028..12729101-chr7:13222330..13224428,2	K562	blood:
11	chr7:13234533..13236633-chr7:13288975..13291281,2	K562	blood:
12	chr7:13209664..13212376-chr7:13237521..13239228,2	K562	blood:
13	chr7:13187144..13190009-chr7:13193078..13195345,2	K562	blood:
14	chr20:52401294..52403111-chr7:13210219..13212096,2	MCF-7	breast:
15	chr7:12722672..12723612-chr7:13218588..13219274,2	MCF-7	breast:
16	chr7:13212799..13215585-chr7:13218700..13220945,2	K562	blood:
17	chr7:12678156..12678755-chr7:13218288..13219237,2	MCF-7	breast:
18	chr7:13195077..13196666-chr7:13196806..13198441,2	MCF-7	breast:
19	chr7:13232632..13234928-chr7:13240962..13243644,2	K562	blood:
20	chr7:13187144..13190009-chr7:13193078..13195345,2	K562	blood:
21	chr7:13234900..13236421-chr7:13245231..13247186,2	K562	blood:
22	chr7:13180182..13182648-chr7:13184471..13186941,2	K562	blood:
23	chr7:13232632..13234928-chr7:13240962..13243644,2	K562	blood:
24	chr7:13209664..13212376-chr7:13237521..13239228,2	K562	blood:
25	chr7:13234900..13236421-chr7:13245231..13247186,2	K562	blood:
26	chr7:13195061..13198037-chr7:13199556..13201286,2	K562	blood:
27	chr7:13189358..13191512-chr7:13195499..13197059,2	K562	blood:
28	chr7:13189358..13191512-chr7:13195499..13197059,2	K562	blood:
29	chr7:13195077..13196666-chr7:13196806..13198441,2	MCF-7	breast:
30	chr7:13195061..13198037-chr7:13199556..13201286,2	K562	blood:
31	chr7:13211183..13213197-chr7:13214894..13216654,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARL4A-7	chr7:13223695-13223818	NONHSAT119248
2	lnc-ARL4A-1	chr7:13257170-13257293	XLOC_005988

No data

Variant related genes	Relation type
ENSG00000122644	chromatin interactions

Extended variants
information (count: 2942 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:2942 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9639143	chr7:13167453-13167454	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553679332	chr7:13167474-13167475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76410571	chr7:13167508-13167509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143451052	chr7:13167512-13167513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183017996	chr7:13167536-13167537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368545063	chr7:13167544-13167545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187345048	chr7:13167577-13167578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371346434	chr7:13167615-13167616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147992256	chr7:13167641-13167642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191626411	chr7:13167648-13167649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376055529	chr7:13167738-13167739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566961836	chr7:13167813-13167814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184514842	chr7:13167816-13167817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551243943	chr7:13167829-13167830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552614923	chr7:13167844-13167845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141681593	chr7:13167868-13167869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569173500	chr7:13167894-13167895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537482818	chr7:13167899-13167900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34730046	chr7:13167900-13167901	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs187489488	chr7:13167902-13167903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533639313	chr7:13167906-13167907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs193276470	chr7:13167911-13167912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566492496	chr7:13167959-13167960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576965629	chr7:13167962-13167963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76176919	chr7:13167964-13167965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556534528	chr7:13167980-13167981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145896185	chr7:13168004-13168005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73261902	chr7:13168013-13168014	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs561256947	chr7:13168014-13168015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574735184	chr7:13168022-13168023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566739085	chr7:13168032-13168033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540374827	chr7:13168061-13168062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185659773	chr7:13168067-13168068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532611142	chr7:13168090-13168091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528134836	chr7:13168096-13168097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552337158	chr7:13168112-13168113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138812546	chr7:13168182-13168183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs117028193	chr7:13168190-13168191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547820456	chr7:13168206-13168207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368114950	chr7:13168246-13168247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190569438	chr7:13168247-13168248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74420104	chr7:13168252-13168253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536689195	chr7:13168295-13168296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181673288	chr7:13168302-13168303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557207265	chr7:13168303-13168304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1029737	chr7:13168308-13168309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs113988751	chr7:13168333-13168334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75931285	chr7:13168334-13168335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1029736	chr7:13168402-13168403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs540584541	chr7:13168441-13168442	Weak 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
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13163800-13171200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:13167400-13168000	Enhancers	Fetal Stomach	stomach
3	chr7:13178400-13178800	Enhancers	Left Ventricle	heart
4	chr7:13183600-13185600	Enhancers	Fetal Stomach	stomach
5	chr7:13184000-13185000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:13184000-13185000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr7:13184200-13184400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:13184200-13184800	Enhancers	Ovary	ovary
9	chr7:13184200-13185000	Enhancers	Colon Smooth Muscle	Colon
10	chr7:13184200-13185000	Enhancers	Fetal Kidney	kidney
11	chr7:13184800-13185200	Weak transcription	Ovary	ovary
12	chr7:13185000-13191400	Weak transcription	Fetal Kidney	kidney
13	chr7:13185200-13185600	Enhancers	Ovary	ovary
14	chr7:13188200-13188800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:13188800-13193600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:13191400-13192000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr7:13191400-13193600	Enhancers	Fetal Kidney	kidney
18	chr7:13191600-13192000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr7:13193000-13193400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:13193000-13193600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:13193600-13193800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:13193600-13194600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:13193600-13199000	Weak transcription	Fetal Kidney	kidney
24	chr7:13193800-13194600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:13194600-13195200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:13194800-13195000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:13195000-13195200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr7:13198400-13199000	Enhancers	Brain Germinal Matrix	brain
29	chr7:13198800-13199400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:13198800-13199600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:13199000-13199400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr7:13199000-13199600	Enhancers	Fetal Kidney	kidney
33	chr7:13199400-13201000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:13201000-13201200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:13204800-13205600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:13205200-13206200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:13205400-13206200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:13205400-13206200	Enhancers	Fetal Lung	lung
39	chr7:13207400-13209800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr7:13214000-13214800	Enhancers	Fetal Intestine Small	intestine
41	chr7:13214200-13214800	Enhancers	Fetal Intestine Large	intestine
42	chr7:13214200-13215000	Enhancers	HepG2	liver
43	chr7:13214200-13215400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:13214400-13214600	Enhancers	Duodenum Mucosa	Duodenum
45	chr7:13214600-13214800	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr7:13214600-13215600	Enhancers	Primary hematopoietic stem cells	blood
47	chr7:13214800-13215200	Enhancers	Duodenum Mucosa	Duodenum
48	chr7:13214800-13215200	Weak transcription	Fetal Intestine Large	intestine
49	chr7:13214800-13215400	Weak transcription	Fetal Intestine Small	intestine
50	chr7:13215000-13218800	Weak transcription	HepG2	liver

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