Variant report

Variant	nsv464552
Chromosome Location	chr7:70324861-70364102
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1312 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1312 , 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	rs4719015	chr7:70324861-70324862	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535719766	chr7:70324909-70324910	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369419351	chr7:70324922-70324923	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs3974376	chr7:70324927-70324928	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10522954	chr7:70324943-70324944	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs55648609	chr7:70324967-70324968	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370477062	chr7:70324984-70324985	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550912614	chr7:70333605-70333606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566150945	chr7:70333643-70333644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534058393	chr7:70333674-70333675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375359013	chr7:70333708-70333709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1997224	chr7:70333711-70333712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549041496	chr7:70333727-70333728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74765410	chr7:70333728-70333729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370352348	chr7:70333739-70333740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560752617	chr7:70333768-70333769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374699964	chr7:70333780-70333781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114189193	chr7:70333846-70333847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567875047	chr7:70333860-70333861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549333704	chr7:70333865-70333866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536428225	chr7:70333897-70333898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368672651	chr7:70333968-70333969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113411690	chr7:70333969-70333970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543293602	chr7:70333984-70333985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149124026	chr7:70333986-70333987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560024774	chr7:70334028-70334029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71077692	chr7:70334029-70334030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182909209	chr7:70334085-70334086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs386714462	chr7:70334098-70334099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7806342	chr7:70334099-70334100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs532832510	chr7:70334186-70334187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368634269	chr7:70334244-70334245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142194060	chr7:70334273-70334274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559701829	chr7:70334308-70334309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527317084	chr7:70334350-70334351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs35352863	chr7:70334385-70334386	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs187030988	chr7:70334396-70334397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538153013	chr7:70334400-70334401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549957385	chr7:70334405-70334406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571489443	chr7:70334448-70334449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539103405	chr7:70334450-70334451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35277849	chr7:70334455-70334456	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs192258739	chr7:70334460-70334461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184368736	chr7:70334469-70334470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187937861	chr7:70334470-70334471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35041413	chr7:70334489-70334490	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs543725046	chr7:70334490-70334491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10278467	chr7:70334503-70334504	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs577056550	chr7:70334532-70334533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544681988	chr7:70334555-70334556	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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70321400-70325000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:70323600-70325000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
3	chr7:70323600-70325000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:70333600-70333800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:70333800-70335600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:70334200-70334800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:70335600-70335800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:70335600-70335800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:70335800-70349000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:70336600-70337000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
11	chr7:70337400-70338000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr7:70337800-70338400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr7:70346600-70347200	Enhancers	Fetal Stomach	stomach
14	chr7:70348800-70352000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:70349000-70350000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:70349000-70350000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr7:70349000-70350000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:70349000-70350200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr7:70349000-70350800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:70349000-70350800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:70349000-70351600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr7:70349000-70352400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr7:70349000-70352400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr7:70349000-70352600	Enhancers	H9 Cell Line	embryonic stem cell
25	chr7:70349000-70352600	Enhancers	Fetal Intestine Large	intestine
26	chr7:70349000-70352800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr7:70349200-70349400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:70349200-70350200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:70349200-70352600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr7:70349400-70352000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr7:70350000-70352000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr7:70350000-70352200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr7:70350200-70351200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr7:70350800-70352200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:70350800-70358000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:70351000-70351200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:70351200-70352000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:70351200-70352200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr7:70351200-70352600	Enhancers	Placenta Amnion	Placenta Amnion
40	chr7:70351600-70352000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr7:70351600-70352400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:70351800-70352400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr7:70352000-70352400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:70352000-70352600	Enhancers	H1 Cell Line	embryonic stem cell
45	chr7:70352000-70352800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr7:70352200-70352400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr7:70352200-70352600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr7:70352200-70352600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:70352200-70353400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
50	chr7:70352400-70355600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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