Variant report

Variant	nsv508675
Chromosome Location	chr12:56249598-56260508
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56222856..56225509-chr12:56248097..56250014,2	MCF-7	breast:
2	chr12:56251018..56252886-chr12:56269364..56271809,2	MCF-7	breast:
3	chr12:56252528..56254672-chr12:56323921..56326010,2	K562	blood:
4	chr12:56239254..56241526-chr12:56250178..56252605,2	MCF-7	breast:
5	chr12:56250854..56253503-chr12:56253508..56255759,2	MCF-7	breast:
6	chr12:56222329..56224581-chr12:56249574..56252234,3	MCF-7	breast:
7	chr12:56253710..56255659-chr12:56256074..56259018,2	K562	blood:
8	chr12:56259043..56260903-chr12:56264083..56266148,2	MCF-7	breast:
9	chr12:56258284..56260527-chr12:56321024..56323288,2	MCF-7	breast:
10	chr12:56253710..56255659-chr12:56256074..56259018,2	K562	blood:
11	chr12:56250854..56253503-chr12:56253508..56255759,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000182796	chromatin interactions
ENSG00000065357	chromatin interactions
ENSG00000135392	chromatin interactions
ENSG00000170473	chromatin interactions

Extended variants
information (count: 312 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:312 , 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	rs532476524	chr12:56249656-56249657	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs541446081	chr12:56249670-56249671	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs113496632	chr12:56249694-56249695	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs541939840	chr12:56249699-56249700	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs549309603	chr12:56249714-56249715	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs567559394	chr12:56249715-56249716	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs199599971	chr12:56249731-56249732	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs561814931	chr12:56249770-56249771	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs549688474	chr12:56249802-56249803	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs571355019	chr12:56249828-56249829	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs538370339	chr12:56249887-56249888	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs113884039	chr12:56249956-56249957	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs148160106	chr12:56250000-56250001	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs192641369	chr12:56250036-56250037	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs554882853	chr12:56250077-56250078	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs184892324	chr12:56250108-56250109	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs544019969	chr12:56250150-56250151	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs142018258	chr12:56250168-56250169	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs375818918	chr12:56250222-56250223	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs577343854	chr12:56250249-56250250	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs541172851	chr12:56250253-56250254	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs559847739	chr12:56250288-56250289	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs574928699	chr12:56250298-56250299	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs542242186	chr12:56250522-56250523	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs571482073	chr12:56250524-56250525	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs200710465	chr12:56250531-56250532	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs201548135	chr12:56250533-56250534	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs199614613	chr12:56250535-56250536	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs75429377	chr12:56250536-56250537	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs80045032	chr12:56250543-56250544	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs200666076	chr12:56250545-56250546	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs143226407	chr12:56250546-56250547	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs200119387	chr12:56250548-56250549	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs12313157	chr12:56250549-56250550	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs189174976	chr12:56250552-56250553	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs564954071	chr12:56250562-56250563	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs532287121	chr12:56250588-56250589	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs547184361	chr12:56250633-56250634	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs565426218	chr12:56250685-56250686	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs535889216	chr12:56250690-56250691	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs527438166	chr12:56250700-56250701	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs181669543	chr12:56250739-56250740	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs570045123	chr12:56250752-56250753	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs185154636	chr12:56250773-56250774	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs373107742	chr12:56250845-56250846	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs577377569	chr12:56250896-56250897	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs74091426	chr12:56250913-56250914	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs553553039	chr12:56250994-56250995	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs554004160	chr12:56250998-56250999	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs113969336	chr12:56251015-56251016	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	20531469	CNVD
Multiple myeloma	16616336	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21569311	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Glioblastoma multiforme	19115005	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Lung adenocarcinoma	17982442	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56245000-56249800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr12:56245000-56250000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:56245000-56250000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:56245200-56250000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:56249800-56250400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr12:56249800-56251200	Enhancers	Hela-S3	cervix
7	chr12:56250000-56250400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:56250000-56250400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:56250000-56250600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:56250000-56251000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:56250200-56251000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:56250800-56251200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr12:56250800-56251200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:56256400-56256600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:56256600-56257200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:56257200-56257400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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