Variant report

Variant	nsv569426
Chromosome Location	chr15:53014003-53046210
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:50)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:53022444..53024405-chr15:53025609..53027744,2	MCF-7	breast:
2	chr15:53001338..53004194-chr15:53026134..53027960,2	MCF-7	breast:
3	chr15:52820586..52822979-chr15:53024504..53027126,2	MCF-7	breast:
4	chr15:52509083..52509697-chr15:53027309..53027962,2	MCF-7	breast:
5	chr15:52970778..52973073-chr15:53012277..53014291,2	MCF-7	breast:
6	chr15:52548546..52549086-chr15:53027357..53028249,2	MCF-7	breast:
7	chr15:53008460..53014321-chr15:53016290..53019599,5	MCF-7	breast:
8	chr15:52623330..52624257-chr15:53027398..53028338,3	K562	blood:
9	chr15:52973784..52977367-chr15:53024530..53026901,4	MCF-7	breast:
10	chr15:52628155..52629955-chr15:53015410..53018106,2	MCF-7	breast:
11	chr15:53044281..53045818-chr15:53046092..53048066,2	MCF-7	breast:
12	chr15:52508008..52509939-chr15:53026331..53028847,2	MCF-7	breast:
13	chr15:52849763..52852458-chr15:53021230..53022756,2	MCF-7	breast:
14	chr15:52888619..52891451-chr15:53020250..53023070,2	MCF-7	breast:
15	chr15:53020211..53022742-chr15:53022811..53024880,2	MCF-7	breast:
16	chr15:52548200..52549159-chr15:53027337..53028329,9	MCF-7	breast:
17	chr15:52587244..52588799-chr15:53018696..53021344,2	MCF-7	breast:
18	chr15:52859015..52862196-chr15:53026182..53028979,3	MCF-7	breast:
19	chr15:52966586..52968208-chr15:53018199..53019999,2	MCF-7	breast:
20	chr15:53020211..53022742-chr15:53022811..53024880,2	MCF-7	breast:
21	chr15:52969340..52972976-chr15:53024542..53030044,12	MCF-7	breast:
22	chr15:52819938..52821534-chr15:53026653..53028952,2	MCF-7	breast:
23	chr15:53008460..53014321-chr15:53016290..53019599,5	MCF-7	breast:
24	chr15:52968697..52973342-chr15:53018163..53028590,24	MCF-7	breast:
25	chr15:53017085..53018702-chr15:53021319..53022831,2	MCF-7	breast:
26	chr15:53041560..53043860-chr15:53047781..53050095,2	MCF-7	breast:
27	chr15:52965949..52968646-chr15:53025332..53028243,3	MCF-7	breast:
28	chr15:52509089..52509941-chr15:53027516..53028325,2	MCF-7	breast:
29	chr15:53020023..53021825-chr15:53025584..53028001,2	MCF-7	breast:
30	chr15:52970779..52973636-chr15:53016610..53018142,2	MCF-7	breast:
31	chr15:52548183..52549192-chr15:53027141..53028320,9	K562	blood:
32	chr15:53044281..53045818-chr15:53046092..53048066,2	MCF-7	breast:
33	chr15:52623110..52623924-chr15:53027427..53028267,4	MCF-7	breast:
34	chr15:53020023..53021825-chr15:53025584..53028001,2	MCF-7	breast:
35	chr15:53001798..53003547-chr15:53015558..53017626,2	MCF-7	breast:
36	chr15:52623273..52624277-chr15:53027279..53028330,7	MCF-7	breast:
37	chr15:52820704..52821409-chr15:53027435..53028340,2	K562	blood:
38	chr15:53014375..53016603-chr15:53017308..53019885,2	MCF-7	breast:
39	chr15:52623157..52624688-chr15:53027206..53029012,2	MCF-7	breast:
40	chr15:53022444..53024405-chr15:53025609..53027744,2	MCF-7	breast:
41	chr15:52623345..52624286-chr15:53022394..53023020,2	MCF-7	breast:
42	chr15:52942373..52946105-chr15:53022429..53026141,4	MCF-7	breast:
43	chr15:52987035..52988935-chr15:53020479..53022010,2	MCF-7	breast:
44	chr15:53038140..53039640-chr6:164665968..164668696,2	K562	blood:
45	chr15:52967780..52973455-chr15:53015921..53024493,22	MCF-7	breast:
46	chr15:52860064..52861646-chr15:53023947..53025473,2	MCF-7	breast:
47	chr15:53017085..53018702-chr15:53021319..53022831,2	MCF-7	breast:
48	chr15:52970614..52972574-chr15:53011299..53014236,2	MCF-7	breast:
49	chr1:147805556..147808085-chr15:53045011..53047682,2	MCF-7	breast:
50	chr15:53014375..53016603-chr15:53017308..53019885,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000128989	chromatin interactions
ENSG00000202408	chromatin interactions
ENSG00000197535	chromatin interactions
ENSG00000128833	chromatin interactions
ENSG00000047346	chromatin interactions

Extended variants
information (count: 1297 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1297 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8033159	chr15:53014003-53014004	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572624344	chr15:53014025-53014026	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs543322514	chr15:53014065-53014066	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs8033033	chr15:53014125-53014126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs532228251	chr15:53014153-53014154	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs150347538	chr15:53014193-53014194	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs35895625	chr15:53014202-53014203	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534192148	chr15:53014210-53014211	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs191250945	chr15:53014306-53014307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565192402	chr15:53014329-53014330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532553203	chr15:53014397-53014398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547444918	chr15:53014403-53014404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79746735	chr15:53014405-53014406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529973512	chr15:53014470-53014471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138058838	chr15:53014526-53014527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183483992	chr15:53014549-53014550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149510703	chr15:53014576-53014577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567545760	chr15:53014577-53014578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558629476	chr15:53014627-53014628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570418894	chr15:53014630-53014631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534634472	chr15:53014691-53014692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538110467	chr15:53014719-53014720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188631346	chr15:53014744-53014745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111745647	chr15:53014883-53014884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376583058	chr15:53014906-53014907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555254858	chr15:53014929-53014930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576718963	chr15:53014967-53014968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563266031	chr15:53014984-53014985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148224741	chr15:53015008-53015009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74520913	chr15:53015009-53015010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142682621	chr15:53015010-53015011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372410231	chr15:53015028-53015029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74014838	chr15:53015043-53015044	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs530036713	chr15:53015046-53015047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs72740241	chr15:53015101-53015102	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs201997871	chr15:53015152-53015153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530635986	chr15:53015153-53015154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552058984	chr15:53015163-53015164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544877887	chr15:53015168-53015169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147359931	chr15:53015223-53015224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373565323	chr15:53015257-53015258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372676346	chr15:53015281-53015282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553827257	chr15:53015286-53015287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs193151370	chr15:53015291-53015292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78974646	chr15:53015310-53015311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79616420	chr15:53015332-53015333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111859913	chr15:53015346-53015347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560575242	chr15:53015350-53015351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576780319	chr15:53015359-53015360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544070138	chr15:53015360-53015361	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53013400-53015200	Enhancers	Hela-S3	cervix
2	chr15:53013600-53014200	Enhancers	HUVEC	blood vessel
3	chr15:53013800-53015000	Weak transcription	Pancreas	Pancrea
4	chr15:53013800-53015000	Weak transcription	Spleen	Spleen
5	chr15:53015000-53015400	Enhancers	Pancreas	Pancrea
6	chr15:53015000-53015400	Enhancers	Spleen	Spleen
7	chr15:53020000-53020200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:53020000-53020400	Enhancers	Primary B cells from peripheral blood	blood
9	chr15:53020000-53020600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr15:53020000-53023200	Enhancers	Hela-S3	cervix
11	chr15:53020200-53020400	Enhancers	GM12878-XiMat	blood
12	chr15:53020200-53022200	Enhancers	NH-A	brain
13	chr15:53020200-53022600	Enhancers	HMEC	breast
14	chr15:53020200-53024800	Enhancers	HUVEC	blood vessel
15	chr15:53020400-53020600	Enhancers	Placenta	Placenta
16	chr15:53020400-53021600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr15:53020400-53021800	Weak transcription	GM12878-XiMat	blood
18	chr15:53020600-53021600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr15:53020800-53022800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr15:53020800-53023000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr15:53020800-53023000	Enhancers	NHEK	skin
22	chr15:53020800-53023200	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr15:53021000-53021400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr15:53021000-53021400	Enhancers	Osteobl	bone
25	chr15:53021000-53022000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr15:53021000-53022000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr15:53021000-53022000	Enhancers	HSMMtube	muscle
28	chr15:53021000-53022800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr15:53021000-53022800	Enhancers	Primary B cells from cord blood	blood
30	chr15:53021000-53022800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:53021000-53023000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr15:53021000-53023000	Enhancers	HSMM	muscle
33	chr15:53021000-53023000	Enhancers	NHDF-Ad	bronchial
34	chr15:53021000-53023200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr15:53021400-53021800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr15:53021400-53021800	Weak transcription	Lung	lung
37	chr15:53021400-53026000	Weak transcription	Osteobl	bone
38	chr15:53021600-53023000	Enhancers	Primary T cells from cord blood	blood
39	chr15:53021600-53023000	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr15:53021600-53023200	Enhancers	Primary B cells from peripheral blood	blood
41	chr15:53021600-53023200	Enhancers	Primary T cells fromperipheralblood	blood
42	chr15:53021600-53023200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr15:53021600-53023200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr15:53021600-53023400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr15:53021800-53022000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr15:53021800-53022000	Enhancers	Small Intestine	intestine
47	chr15:53021800-53022400	Enhancers	Primary hematopoietic stem cells	blood
48	chr15:53021800-53022400	Enhancers	Thymus	Thymus
49	chr15:53021800-53022600	Enhancers	Duodenum Mucosa	Duodenum
50	chr15:53021800-53022600	Enhancers	Lung	lung

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