Variant report

Variant	nsv608378
Chromosome Location	chr7:126570120-126597132
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:126587367-126589276..7:126756671-126761022	H1-hESC	embryonic stem cell:	embryo
2	chr7:126577088..126579543-chr7:126581963..126584921,2	K562	blood:
3	7:126593467-126596179..7:126890676-126899918	H1-hESC	embryonic stem cell:	embryo
4	7:126587367-126589276..7:126733290-126737485	H1-hESC	embryonic stem cell:	embryo
5	chr7:126580578..126583397-chr7:126589821..126591578,2	MCF-7	breast:
6	chr7:126580578..126583397-chr7:126589821..126591578,2	MCF-7	breast:
7	7:126085913-126088095..7:126587367-126589276	H1-hESC	embryonic stem cell:	embryo
8	chr7:126586006..126588015-chr7:126594826..126596374,2	MCF-7	breast:
9	chr7:126586006..126588015-chr7:126594826..126596374,2	MCF-7	breast:
10	7:126584558-126585048..7:126890676-126899918	H1-hESC	embryonic stem cell:	embryo
11	chr7:126577088..126579543-chr7:126581963..126584921,2	K562	blood:
12	7:126587367-126589276..7:126880504-126885902	H1-hESC	embryonic stem cell:	embryo
13	7:126587367-126589276..7:126890676-126899918	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
ENSG00000179603	chromatin interactions

Extended variants
information (count: 439 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:439 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531639530	chr7:126570402-126570403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201831498	chr7:126570459-126570460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543710231	chr7:126570482-126570483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147842432	chr7:126570517-126570518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185758239	chr7:126570528-126570529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567529458	chr7:126570541-126570542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373338459	chr7:126570589-126570590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530060115	chr7:126570635-126570636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552450993	chr7:126570767-126570768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539412106	chr7:126570828-126570829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569668952	chr7:126570840-126570841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537370827	chr7:126570843-126570844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570704861	chr7:126570930-126570931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1419468	chr7:126570934-126570935	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs1419469	chr7:126570988-126570989	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs553281281	chr7:126571037-126571038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572113428	chr7:126571046-126571047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2237775	chr7:126571077-126571078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs77824216	chr7:126571146-126571147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs80069018	chr7:126571150-126571151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543428491	chr7:126571154-126571155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190529125	chr7:126571164-126571165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532305045	chr7:126571165-126571166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541263113	chr7:126571201-126571202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559242483	chr7:126571206-126571207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530137611	chr7:126571227-126571228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367811316	chr7:126571350-126571351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2518954	chr7:126571401-126571402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs111456114	chr7:126571522-126571523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530840961	chr7:126571543-126571544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146972284	chr7:126571623-126571624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557060763	chr7:126571646-126571647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571715929	chr7:126571704-126571705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139143948	chr7:126571717-126571718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs36087817	chr7:126571743-126571744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375218271	chr7:126571767-126571768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141466856	chr7:126571789-126571790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150413109	chr7:126571804-126571805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568640194	chr7:126571836-126571837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138136241	chr7:126571859-126571860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554741534	chr7:126571865-126571866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576187066	chr7:126571956-126571957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181821354	chr7:126572017-126572018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565783068	chr7:126572090-126572091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184511537	chr7:126572092-126572093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537206819	chr7:126572138-126572139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13224055	chr7:126572162-126572163	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs540921715	chr7:126572173-126572174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559522338	chr7:126572195-126572196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573989213	chr7:126572240-126572241	Weak transcription	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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Attention deficit hyperactivity disorder	22138692	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126570400-126571000	Enhancers	Pancreas	Pancrea
2	chr7:126571000-126576600	Weak transcription	Pancreas	Pancrea
3	chr7:126575600-126575800	Enhancers	Fetal Kidney	kidney
4	chr7:126576600-126576800	Enhancers	Gastric	stomach
5	chr7:126576600-126577800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr7:126576600-126578400	Enhancers	Pancreas	Pancrea
7	chr7:126576800-126577600	Weak transcription	Gastric	stomach
8	chr7:126577000-126577400	Enhancers	Liver	Liver
9	chr7:126577600-126578000	Enhancers	Fetal Kidney	kidney
10	chr7:126577600-126578000	Enhancers	Gastric	stomach
11	chr7:126580400-126580600	Enhancers	Pancreas	Pancrea
12	chr7:126580800-126581000	Enhancers	Lung	lung
13	chr7:126593600-126594600	Enhancers	Fetal Kidney	kidney
14	chr7:126594600-126595000	Weak transcription	Fetal Kidney	kidney
15	chr7:126595000-126595400	Enhancers	Fetal Kidney	kidney

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