Variant report

Variant	nsv830906
Chromosome Location	chr7:12001764-12177869
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:12145843..12148513-chr7:12148984..12150865,2	MCF-7	breast:
2	chr7:12105122..12108116-chr7:12108941..12111008,2	K562	blood:
3	chr7:12123423..12125399-chr7:12251986..12253800,2	K562	blood:
4	chr7:12141476..12143998-chr7:12145729..12148661,2	K562	blood:
5	chr7:12166840..12168760-chr7:12170445..12172889,2	K562	blood:
6	chr7:12145843..12148513-chr7:12148984..12150865,2	MCF-7	breast:
7	chr7:11467204..11469366-chr7:12166192..12168544,2	K562	blood:
8	chr7:12166840..12168760-chr7:12170445..12172889,2	K562	blood:
9	chr7:12105122..12108116-chr7:12108941..12111008,2	K562	blood:
10	chr7:12106923..12107696-chr7:12361667..12362587,3	MCF-7	breast:
11	chr7:12141476..12143998-chr7:12145729..12148661,2	K562	blood:
12	chr7:12106801..12107705-chr7:12283495..12284419,3	MCF-7	breast:
13	chr7:12170519..12172513-chr7:12174529..12177420,2	K562	blood:
14	chr7:12170519..12172513-chr7:12174529..12177420,2	K562	blood:
15	chr7:12106833..12107747-chr7:12331137..12332178,5	MCF-7	breast:

No data

Extended variants
information (count: 5318 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:5318 , 50 per page) page: 1 2 3 4 5 6 7 ... 107

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192577513	chr7:12001783-12001784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7798599	chr7:12001794-12001795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs182989724	chr7:12001809-12001810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10254552	chr7:12001830-12001831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs76724314	chr7:12001869-12001870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10224879	chr7:12001884-12001885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs147867579	chr7:12001902-12001903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533274248	chr7:12001922-12001923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549718429	chr7:12001967-12001968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569959771	chr7:12001985-12001986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529335640	chr7:12002006-12002007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75073874	chr7:12002015-12002016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568376305	chr7:12002039-12002040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533938894	chr7:12002043-12002044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554030056	chr7:12002198-12002199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570513961	chr7:12002202-12002203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549253275	chr7:12002211-12002212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539546362	chr7:12002251-12002252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs386710364	chr7:12002259-12002260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187618208	chr7:12002264-12002265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535258222	chr7:12002270-12002271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140277307	chr7:12002321-12002322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2908748	chr7:12002341-12002342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs555772107	chr7:12002389-12002390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572715114	chr7:12002398-12002399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541199734	chr7:12002449-12002450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144008056	chr7:12002473-12002474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192910851	chr7:12002512-12002513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74828994	chr7:12002517-12002518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563833249	chr7:12002518-12002519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529254999	chr7:12002528-12002529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549372633	chr7:12002540-12002541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561803773	chr7:12002558-12002559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527585464	chr7:12002606-12002607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73287281	chr7:12002652-12002653	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs184944325	chr7:12002657-12002658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539693347	chr7:12002683-12002684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188305252	chr7:12002746-12002747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114586200	chr7:12002755-12002756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535074104	chr7:12002771-12002772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192150067	chr7:12002778-12002779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73287282	chr7:12002804-12002805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs537748107	chr7:12002810-12002811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375046702	chr7:12002814-12002815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2908747	chr7:12002835-12002836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs117230246	chr7:12002872-12002873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183695827	chr7:12002891-12002892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541798464	chr7:12002895-12002896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189193680	chr7:12002933-12002934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569769089	chr7:12002938-12002939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:591 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11997400-12009400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:12008600-12009800	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr7:12009000-12009800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:12009200-12010000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr7:12009200-12010200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:12009400-12009800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:12009400-12010200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:12009600-12010400	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr7:12021000-12026600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:12025000-12026000	Enhancers	Placenta Amnion	Placenta Amnion
11	chr7:12025800-12027600	Enhancers	Placenta	Placenta
12	chr7:12026600-12027000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:12028000-12028400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr7:12030000-12030200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:12044200-12045000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr7:12044200-12045000	Enhancers	Duodenum Mucosa	Duodenum
17	chr7:12044400-12045000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr7:12044800-12045200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr7:12045000-12048400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:12047600-12047800	Enhancers	Fetal Kidney	kidney
21	chr7:12048400-12048600	Enhancers	Fetal Kidney	kidney
22	chr7:12048400-12049000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr7:12048400-12049200	Enhancers	Small Intestine	intestine
24	chr7:12048800-12049400	Enhancers	Fetal Brain Female	brain
25	chr7:12055600-12057800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:12057800-12059200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:12059200-12059400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:12059400-12059800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:12059600-12060000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:12059800-12062400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:12061000-12061600	Enhancers	Fetal Lung	lung
32	chr7:12067000-12067600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr7:12067600-12072600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:12068200-12068400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:12068200-12068400	Enhancers	Gastric	stomach
36	chr7:12068200-12068400	Enhancers	Pancreas	Pancrea
37	chr7:12068200-12068600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:12068400-12068600	Enhancers	NH-A	brain
39	chr7:12068400-12069600	Weak transcription	Pancreas	Pancrea
40	chr7:12068600-12069600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:12068600-12069600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:12068600-12069600	Weak transcription	NH-A	brain
43	chr7:12069600-12069800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:12069600-12070000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr7:12069600-12070000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:12069600-12070000	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr7:12069600-12070000	Enhancers	Pancreas	Pancrea
48	chr7:12069600-12070200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:12069600-12070200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:12069600-12070400	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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