Variant report

Variant	nsv904208
Chromosome Location	chr15:50428495-50457858
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:54)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:54 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr15:50441826..50443865-chr15:50447312..50448895,2	MCF-7	breast:
2	chr15:50444903..50447487-chr15:50612811..50614649,2	MCF-7	breast:
3	chr15:50429608..50431277-chr15:50435108..50437577,2	K562	blood:
4	chr15:50408457..50409368-chr15:50430353..50431313,7	MCF-7	breast:
5	chr15:50438596..50441620-chr15:50472701..50475039,3	MCF-7	breast:
6	chr15:49898696..49899496-chr15:50437276..50438044,3	MCF-7	breast:
7	chr15:50437707..50440587-chr15:50443318..50445441,2	MCF-7	breast:
8	chr15:50440291..50441191-chr15:50605962..50607640,5	MCF-7	breast:
9	chr15:50440668..50441293-chr15:50608012..50608637,2	MCF-7	breast:
10	chr15:50168979..50170922-chr15:50428589..50430451,2	MCF-7	breast:
11	chr15:50420970..50423759-chr15:50428011..50430538,2	MCF-7	breast:
12	chr15:50428036..50430534-chr15:50437642..50439457,2	MCF-7	breast:
13	chr15:50429608..50431277-chr15:50435108..50437577,2	K562	blood:
14	chr15:50454057..50460168-chr15:50645536..50649910,8	MCF-7	breast:
15	chr15:50425943..50428562-chr15:50428956..50430506,3	K562	blood:
16	chr15:49663197..49663716-chr15:50437294..50437821,2	K562	blood:
17	chr15:50440301..50441213-chr15:50607839..50608428,2	K562	blood:
18	chr15:50453145..50457285-chr15:50473391..50475855,3	MCF-7	breast:
19	chr15:50440216..50441453-chr15:50606385..50608916,26	MCF-7	breast:
20	chr15:50447784..50449548-chr15:50646036..50647679,2	MCF-7	breast:
21	chr15:50418543..50420300-chr15:50426585..50429061,2	MCF-7	breast:
22	chr15:50453981..50457039-chr15:50645727..50648852,3	K562	blood:
23	chr15:50440182..50441527-chr15:50607833..50609167,10	MCF-7	breast:
24	chr15:50445001..50446848-chr15:50634894..50637505,2	MCF-7	breast:
25	chr15:50431663..50433550-chr15:50434426..50437064,2	K562	blood:
26	chr15:50433897..50436991-chr15:50437166..50439975,3	MCF-7	breast:
27	chr15:50441826..50443865-chr15:50447312..50448895,2	MCF-7	breast:
28	chr15:50343838..50344709-chr15:50437300..50438173,3	MCF-7	breast:
29	chr15:50437465..50438280-chr15:50607926..50608913,5	MCF-7	breast:
30	chr15:50456856..50459058-chr15:50459344..50460861,2	K562	blood:
31	chr15:50408827..50409344-chr15:50437706..50438255,2	K562	blood:
32	chr15:50452950..50455198-chr15:50455553..50458422,2	MCF-7	breast:
33	chr15:50440388..50441313-chr15:50478952..50479629,3	MCF-7	breast:
34	chr15:50428036..50430534-chr15:50437642..50439457,2	MCF-7	breast:
35	chr15:50431663..50433550-chr15:50434426..50437064,2	K562	blood:
36	chr15:50437707..50440587-chr15:50443318..50445441,2	MCF-7	breast:
37	chr15:50440034..50441559-chr15:50444185..50445949,2	K562	blood:
38	chr15:50435789..50439310-chr15:50472898..50476135,3	MCF-7	breast:
39	chr15:50443381..50444124-chr15:50608063..50608966,2	MCF-7	breast:
40	chr15:50430804..50433194-chr15:50550057..50552269,2	MCF-7	breast:
41	chr15:50429285..50430133-chr19:45927098..45927779,2	Hela-S3	cervix:
42	chr15:50452950..50455198-chr15:50455553..50458422,2	MCF-7	breast:
43	chr15:50436281..50440300-chr15:50607004..50610746,4	MCF-7	breast:
44	chr15:50343799..50344658-chr15:50430684..50431213,3	MCF-7	breast:
45	chr15:50330960..50333313-chr15:50430196..50432185,2	MCF-7	breast:
46	chr15:50436327..50442259-chr15:50645496..50648593,7	MCF-7	breast:
47	chr15:50296030..50296784-chr15:50438463..50439304,2	MCF-7	breast:
48	chr15:50440034..50441559-chr15:50444185..50445949,2	K562	blood:
49	chr15:50449909..50451969-chr15:50647076..50649305,2	MCF-7	breast:
50	chr15:50442015..50445819-chr15:50646242..50648814,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000140284	chromatin interactions
ENSG00000244879	chromatin interactions
ENSG00000012061	chromatin interactions
ENSG00000104064	chromatin interactions
ENSG00000104043	chromatin interactions

Extended variants
information (count: 1137 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1137 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11858160	chr15:50428495-50428496	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs565307872	chr15:50428537-50428538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183603143	chr15:50428583-50428584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547949682	chr15:50428603-50428604	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs118035334	chr15:50428626-50428627	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs189332286	chr15:50428635-50428636	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs548737761	chr15:50428642-50428643	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs192726645	chr15:50428690-50428691	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs8038060	chr15:50428696-50428697	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs558804699	chr15:50428702-50428703	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs17499691	chr15:50428741-50428742	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs8036936	chr15:50428822-50428823	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs528508925	chr15:50428836-50428837	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs184555982	chr15:50428837-50428838	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs375673804	chr15:50428839-50428840	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs189928504	chr15:50428845-50428846	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs112880768	chr15:50428850-50428851	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs181548818	chr15:50428878-50428879	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs143623139	chr15:50428922-50428923	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs146783537	chr15:50428933-50428934	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs8037555	chr15:50428972-50428973	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs569094769	chr15:50429010-50429011	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539727918	chr15:50429187-50429188	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558123319	chr15:50429219-50429220	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs17499726	chr15:50429228-50429229	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs186207889	chr15:50429274-50429275	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569353325	chr15:50429304-50429305	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs547764565	chr15:50429350-50429351	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs76473283	chr15:50429351-50429352	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs530177655	chr15:50429361-50429362	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs548379899	chr15:50429384-50429385	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs55970302	chr15:50429420-50429421	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs531008719	chr15:50429439-50429440	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs4774556	chr15:50429445-50429446	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs6493405	chr15:50429450-50429451	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs534323293	chr15:50429463-50429464	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs144290712	chr15:50429516-50429517	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs189454584	chr15:50429546-50429547	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs535563760	chr15:50429560-50429561	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs182062603	chr15:50429569-50429570	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs151050993	chr15:50429648-50429649	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs140834223	chr15:50429649-50429650	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs558084734	chr15:50429652-50429653	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs573144717	chr15:50429670-50429671	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs187438111	chr15:50429718-50429719	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs190605029	chr15:50429734-50429735	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs530023947	chr15:50429738-50429739	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs371078113	chr15:50429815-50429816	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs542359355	chr15:50429902-50429903	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs563622534	chr15:50429906-50429907	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Acute lymphoblastic leukemia	22237106	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
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50424200-50429000	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr15:50425200-50429000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr15:50425800-50428800	Enhancers	Hela-S3	cervix
4	chr15:50425800-50430800	Enhancers	NHDF-Ad	bronchial
5	chr15:50426000-50428800	Enhancers	Primary hematopoietic stem cells	blood
6	chr15:50426000-50429000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr15:50426000-50429400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr15:50426000-50430600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr15:50426000-50430800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr15:50426400-50428600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr15:50426400-50430400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr15:50426400-50430400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr15:50426400-50430600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr15:50426400-50430600	Enhancers	NHLF	lung
15	chr15:50426400-50430800	Enhancers	Osteobl	bone
16	chr15:50426600-50429000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr15:50426800-50429000	Enhancers	Stomach Smooth Muscle	stomach
18	chr15:50427000-50428800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr15:50427200-50429800	Weak transcription	HUVEC	blood vessel
20	chr15:50427400-50428600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:50427600-50429200	Enhancers	Fetal Stomach	stomach
22	chr15:50427600-50429400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:50427800-50429400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:50427800-50429800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr15:50427800-50429800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr15:50427800-50429800	Weak transcription	HSMM	muscle
27	chr15:50427800-50429800	Weak transcription	NH-A	brain
28	chr15:50427800-50436400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr15:50428000-50429000	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr15:50428000-50429200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr15:50428000-50429200	Weak transcription	HMEC	breast
32	chr15:50428000-50429200	Weak transcription	K562	blood
33	chr15:50428000-50429200	Weak transcription	NHEK	skin
34	chr15:50428200-50428800	Enhancers	A549	lung
35	chr15:50428400-50428800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr15:50428400-50429400	Weak transcription	Colon Smooth Muscle	Colon
37	chr15:50428400-50430400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr15:50428600-50428800	Enhancers	Rectal Smooth Muscle	rectum
39	chr15:50428600-50429600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr15:50428600-50429800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr15:50428800-50429000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr15:50428800-50429800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr15:50428800-50430200	Flanking Active TSS	A549	lung
44	chr15:50428800-50430200	Flanking Active TSS	Hela-S3	cervix
45	chr15:50428800-50430600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr15:50428800-50432400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr15:50429000-50429800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr15:50429000-50429800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr15:50429000-50430800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr15:50429000-50434200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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