Variant report

Variant	nsv516942
Chromosome Location	chr7:147337742-147354931
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:147353644..147356428-chr7:147367899..147370920,3	K562	blood:
2	chr7:147336385..147338397-chr7:147355639..147357914,2	K562	blood:

Variant related genes	Relation type
ENSG00000230190	chromatin interactions

Extended variants
information (count: 310 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7783626	chr7:147337742-147337743	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs377423192	chr7:147337757-147337758	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553559868	chr7:147337775-147337776	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576852235	chr7:147337788-147337789	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74742774	chr7:147337791-147337792	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556115915	chr7:147337817-147337818	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs202160724	chr7:147337824-147337825	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs78954515	chr7:147337857-147337858	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs139604358	chr7:147337867-147337868	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs145117708	chr7:147337966-147337967	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs115405805	chr7:147337991-147337992	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs7801452	chr7:147337996-147337997	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs564451379	chr7:147338041-147338042	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs533449880	chr7:147338101-147338102	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs547304088	chr7:147338102-147338103	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs543490232	chr7:147338105-147338106	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs568651921	chr7:147338142-147338143	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs529544478	chr7:147338192-147338193	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs114905211	chr7:147338209-147338210	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs75137173	chr7:147338246-147338247	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs200232086	chr7:147338252-147338253	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs148617611	chr7:147338261-147338262	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs543406081	chr7:147338271-147338272	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs113894077	chr7:147338272-147338273	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs551938544	chr7:147338385-147338386	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs569343030	chr7:147338426-147338427	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs55688811	chr7:147338463-147338464	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs73164396	chr7:147338476-147338477	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs28477379	chr7:147338482-147338483	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs189826840	chr7:147338499-147338500	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs56130548	chr7:147338500-147338501	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs148382658	chr7:147338601-147338602	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs71530789	chr7:147338616-147338617	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs553277937	chr7:147338653-147338654	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs34833360	chr7:147338689-147338690	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs553520669	chr7:147338773-147338774	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs540903033	chr7:147338785-147338786	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs574596423	chr7:147338825-147338826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34437467	chr7:147338832-147338833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs995309	chr7:147338905-147338906	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs117989509	chr7:147338960-147338961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532646896	chr7:147348207-147348208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112796314	chr7:147348227-147348228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191342430	chr7:147348280-147348281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10245518	chr7:147348353-147348354	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs368502861	chr7:147348415-147348416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149278048	chr7:147348437-147348438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374037996	chr7:147348488-147348489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182763945	chr7:147348490-147348491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529121284	chr7:147348501-147348502	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:147333200-147338400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:147336200-147337800	Active TSS	Brain Anterior Caudate	brain
3	chr7:147336200-147337800	Active TSS	Brain Cingulate Gyrus	brain
4	chr7:147336200-147338000	Active TSS	Brain Hippocampus Middle	brain
5	chr7:147336200-147338800	Active TSS	Brain Substantia Nigra	brain
6	chr7:147336600-147338200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:147337000-147337800	Enhancers	Fetal Stomach	stomach
8	chr7:147337000-147338600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:147337600-147337800	Flanking Active TSS	Brain Angular Gyrus	brain
10	chr7:147338400-147338600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr7:147338400-147338600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr7:147338800-147339000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr7:147348200-147348800	Enhancers	Brain Hippocampus Middle	brain
14	chr7:147348200-147349400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:147348400-147349200	Enhancers	Brain Substantia Nigra	brain
16	chr7:147348600-147348800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr7:147348600-147349000	Enhancers	Fetal Lung	lung
18	chr7:147348800-147349000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr7:147349000-147350400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:147349000-147355600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr7:147349000-147355600	Weak transcription	Fetal Lung	lung
22	chr7:147350400-147350800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:147350400-147350800	Enhancers	Gastric	stomach
24	chr7:147350400-147351800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr7:147350400-147351800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr7:147350600-147350800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr7:147350600-147350800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr7:147350600-147351800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr7:147350800-147351600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr7:147350800-147351800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr7:147350800-147355400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:147350800-147355600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr7:147351200-147355600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr7:147351600-147351800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr7:147351800-147355400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr7:147351800-147355400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr7:147351800-147355600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr7:147351800-147355600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr7:147351800-147355600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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