Variant report

Variant	nsv464385
Chromosome Location	chr7:13190950-13213202
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52401294..52403111-chr7:13210219..13212096,2	MCF-7	breast:
2	chr7:13189358..13191512-chr7:13195499..13197059,2	K562	blood:
3	chr7:13187144..13190009-chr7:13193078..13195345,2	K562	blood:
4	chr7:13189358..13191512-chr7:13195499..13197059,2	K562	blood:
5	chr7:13212799..13215585-chr7:13218700..13220945,2	K562	blood:
6	chr7:13211183..13213197-chr7:13214894..13216654,2	K562	blood:
7	chr7:13195061..13198037-chr7:13199556..13201286,2	K562	blood:
8	chr7:13195061..13198037-chr7:13199556..13201286,2	K562	blood:
9	chr7:13195077..13196666-chr7:13196806..13198441,2	MCF-7	breast:
10	chr7:13209664..13212376-chr7:13237521..13239228,2	K562	blood:
11	chr7:13195077..13196666-chr7:13196806..13198441,2	MCF-7	breast:

No data

Extended variants
information (count: 592 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:592 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7804111	chr7:13190950-13190951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183707098	chr7:13190965-13190966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527921476	chr7:13190972-13190973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147678200	chr7:13190982-13190983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571014174	chr7:13190992-13190993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540160770	chr7:13191015-13191016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550463891	chr7:13191016-13191017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74760245	chr7:13191017-13191018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562645221	chr7:13191020-13191021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535425965	chr7:13191050-13191051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375276633	chr7:13191062-13191063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112632843	chr7:13191083-13191084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369057803	chr7:13191136-13191137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7804393	chr7:13191141-13191142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs117323131	chr7:13191150-13191151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7785396	chr7:13191171-13191172	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs142430525	chr7:13191174-13191175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543346080	chr7:13191191-13191192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116939002	chr7:13191195-13191196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188229537	chr7:13191196-13191197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542198879	chr7:13191216-13191217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7785416	chr7:13191223-13191224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs557614654	chr7:13191246-13191247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527792272	chr7:13191258-13191259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146616153	chr7:13191261-13191262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192951030	chr7:13191297-13191298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567203814	chr7:13191359-13191360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536295514	chr7:13191388-13191389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533552524	chr7:13191396-13191397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550539804	chr7:13191439-13191440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184876439	chr7:13191445-13191446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373376966	chr7:13191453-13191454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187101950	chr7:13191463-13191464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148347549	chr7:13191471-13191472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10246813	chr7:13191503-13191504	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs572786495	chr7:13191506-13191507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140559988	chr7:13191542-13191543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557414692	chr7:13191543-13191544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571135062	chr7:13191577-13191578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191581360	chr7:13191588-13191589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556878507	chr7:13191646-13191647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6956691	chr7:13191790-13191791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34024844	chr7:13191805-13191806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539851909	chr7:13191863-13191864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56386161	chr7:13191876-13191877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561601321	chr7:13191963-13191964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150475832	chr7:13192012-13192013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183765395	chr7:13192015-13192016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189507959	chr7:13192018-13192019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564551816	chr7:13192023-13192024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13185000-13191400	Weak transcription	Fetal Kidney	kidney
2	chr7:13188800-13193600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:13191400-13192000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr7:13191400-13193600	Enhancers	Fetal Kidney	kidney
5	chr7:13191600-13192000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:13193000-13193400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:13193000-13193600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:13193600-13193800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:13193600-13194600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:13193600-13199000	Weak transcription	Fetal Kidney	kidney
11	chr7:13193800-13194600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:13194600-13195200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:13194800-13195000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:13195000-13195200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr7:13198400-13199000	Enhancers	Brain Germinal Matrix	brain
16	chr7:13198800-13199400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:13198800-13199600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:13199000-13199400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr7:13199000-13199600	Enhancers	Fetal Kidney	kidney
20	chr7:13199400-13201000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:13201000-13201200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:13204800-13205600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:13205200-13206200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:13205400-13206200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:13205400-13206200	Enhancers	Fetal Lung	lung
26	chr7:13207400-13209800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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