Variant report

Variant	nsv1022601
Chromosome Location	chr7:70323402-70362579
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1304 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1304 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189455088	chr7:70323402-70323403	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs542067833	chr7:70323424-70323425	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs560642735	chr7:70323476-70323477	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs141685818	chr7:70323482-70323483	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs539799713	chr7:70323490-70323491	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs193156506	chr7:70323501-70323502	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs560551946	chr7:70323555-70323556	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs7778197	chr7:70323578-70323579	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs150526452	chr7:70323643-70323644	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547647685	chr7:70323645-70323646	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs386714458	chr7:70323653-70323654	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs386714459	chr7:70323655-70323656	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113058571	chr7:70323656-70323657	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs62459631	chr7:70323657-70323658	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs560260971	chr7:70323684-70323685	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550046071	chr7:70323690-70323691	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569866616	chr7:70323741-70323742	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568163694	chr7:70323742-70323743	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7782001	chr7:70323768-70323769	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs542120525	chr7:70323770-70323771	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529194357	chr7:70323781-70323782	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556998188	chr7:70323839-70323840	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577150636	chr7:70323884-70323885	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139474115	chr7:70323946-70323947	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576800969	chr7:70324009-70324010	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371193021	chr7:70324011-70324012	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375362958	chr7:70324147-70324148	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574837562	chr7:70324187-70324188	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542129128	chr7:70324208-70324209	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563494898	chr7:70324214-70324215	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575770469	chr7:70324297-70324298	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543472033	chr7:70324312-70324313	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34964217	chr7:70324357-70324358	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs1918421	chr7:70324371-70324372	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563720490	chr7:70324373-70324374	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370366361	chr7:70324413-70324414	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185006865	chr7:70324414-70324415	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116517005	chr7:70324422-70324423	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559399409	chr7:70324424-70324425	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565699434	chr7:70324467-70324468	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1918420	chr7:70324514-70324515	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs189616855	chr7:70324515-70324516	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372451735	chr7:70324547-70324548	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573527904	chr7:70324562-70324563	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569831337	chr7:70324570-70324571	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114350310	chr7:70324600-70324601	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542450293	chr7:70324645-70324646	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs55773639	chr7:70324654-70324655	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370186052	chr7:70324669-70324670	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562105913	chr7:70324670-70324671	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Dyslexia	22102821	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70321200-70323600	Enhancers	H9 Cell Line	embryonic stem cell
2	chr7:70321400-70325000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:70321600-70323600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr7:70322800-70323600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:70322800-70323600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:70323400-70323800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:70323400-70323800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:70323400-70324200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr7:70323600-70324400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr7:70323600-70325000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
11	chr7:70323600-70325000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:70323800-70324200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr7:70323800-70324600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:70323800-70324800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr7:70333600-70333800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:70333800-70335600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:70334200-70334800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:70335600-70335800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:70335600-70335800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:70335800-70349000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:70336600-70337000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
22	chr7:70337400-70338000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr7:70337800-70338400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr7:70346600-70347200	Enhancers	Fetal Stomach	stomach
25	chr7:70348800-70352000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr7:70349000-70350000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr7:70349000-70350000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr7:70349000-70350000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr7:70349000-70350200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr7:70349000-70350800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:70349000-70350800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:70349000-70351600	Enhancers	H1 Cell Line	embryonic stem cell
33	chr7:70349000-70352400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr7:70349000-70352400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr7:70349000-70352600	Enhancers	H9 Cell Line	embryonic stem cell
36	chr7:70349000-70352600	Enhancers	Fetal Intestine Large	intestine
37	chr7:70349000-70352800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr7:70349200-70349400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr7:70349200-70350200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:70349200-70352600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr7:70349400-70352000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr7:70350000-70352000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr7:70350000-70352200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr7:70350200-70351200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr7:70350800-70352200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:70350800-70358000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr7:70351000-70351200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:70351200-70352000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:70351200-70352200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr7:70351200-70352600	Enhancers	Placenta Amnion	Placenta Amnion

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