Variant report

Variant	nsv526246
Chromosome Location	chr15:49738233-49749735
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	chr15:49740094..49742331-chr15:49762242..49764123,2	MCF-7	breast:

Extended variants
information (count: 381 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10519226	chr15:49738233-49738234	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548509897	chr15:49738254-49738255	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72727294	chr15:49738296-49738297	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs112326311	chr15:49738314-49738315	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554511582	chr15:49738334-49738335	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569315668	chr15:49738361-49738362	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113339027	chr15:49738370-49738371	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138905444	chr15:49738393-49738394	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574783255	chr15:49738411-49738412	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375638992	chr15:49738425-49738426	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149399237	chr15:49738467-49738468	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557347213	chr15:49738528-49738529	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs17478694	chr15:49738542-49738543	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs543707826	chr15:49738582-49738583	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564966367	chr15:49738599-49738600	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569009683	chr15:49738607-49738608	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190147763	chr15:49738624-49738625	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540815034	chr15:49738630-49738631	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538054651	chr15:49738636-49738637	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559389473	chr15:49738681-49738682	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181434417	chr15:49738689-49738690	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547784230	chr15:49738746-49738747	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568635989	chr15:49738783-49738784	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117760788	chr15:49738793-49738794	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531122733	chr15:49738799-49738800	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34550202	chr15:49738819-49738820	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185917427	chr15:49738859-49738860	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189157538	chr15:49738893-49738894	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs59231447	chr15:49738989-49738990	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370936568	chr15:49739008-49739009	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34635038	chr15:49739047-49739048	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs144772170	chr15:49739084-49739085	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536696231	chr15:49739123-49739124	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558421176	chr15:49739125-49739126	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575693852	chr15:49739236-49739237	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181887894	chr15:49739259-49739260	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576761762	chr15:49739294-49739295	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12595497	chr15:49739344-49739345	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs577003740	chr15:49739345-49739346	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2413945	chr15:49739350-49739351	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs559234259	chr15:49739422-49739423	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs952127	chr15:49739427-49739428	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34972247	chr15:49739430-49739431	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185064022	chr15:49739445-49739446	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141978680	chr15:49739468-49739469	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs952126	chr15:49739469-49739470	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553033071	chr15:49739530-49739531	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368248224	chr15:49739560-49739561	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147257127	chr15:49739562-49739563	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562974491	chr15:49739594-49739595	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49730400-49744600	Weak transcription	NHLF	lung
2	chr15:49732000-49750200	Weak transcription	HSMM	muscle
3	chr15:49732800-49741000	Weak transcription	Fetal Heart	heart
4	chr15:49733200-49741800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr15:49736200-49739600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr15:49736400-49740800	Weak transcription	Right Ventricle	heart
7	chr15:49737000-49741800	Weak transcription	Osteobl	bone
8	chr15:49737000-49751200	Weak transcription	Ovary	ovary
9	chr15:49737200-49739800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr15:49737200-49740200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr15:49737600-49738800	Weak transcription	Colon Smooth Muscle	Colon
12	chr15:49737600-49741000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr15:49737600-49744200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:49738200-49739200	Genic enhancers	NHDF-Ad	bronchial
15	chr15:49738800-49740400	Enhancers	Colon Smooth Muscle	Colon
16	chr15:49739200-49744200	Weak transcription	NHDF-Ad	bronchial
17	chr15:49739600-49741600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr15:49739800-49741200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:49740200-49740600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr15:49740400-49741200	Weak transcription	Colon Smooth Muscle	Colon
21	chr15:49740600-49741200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr15:49740800-49741600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr15:49741000-49742800	Enhancers	Fetal Heart	heart
24	chr15:49741000-49743200	Enhancers	Rectal Smooth Muscle	rectum
25	chr15:49741200-49742800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr15:49741200-49743000	Enhancers	Colon Smooth Muscle	Colon
27	chr15:49741200-49743000	Enhancers	Fetal Lung	lung
28	chr15:49741200-49743200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr15:49741600-49742800	Enhancers	Stomach Smooth Muscle	stomach
30	chr15:49741600-49743200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr15:49741800-49742000	Enhancers	Adipose Nuclei	Adipose
32	chr15:49741800-49742800	Genic enhancers	Osteobl	bone
33	chr15:49741800-49747400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr15:49742000-49752000	Weak transcription	Adipose Nuclei	Adipose
35	chr15:49742200-49743200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr15:49742800-49743000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr15:49742800-49743000	Strong transcription	Osteobl	bone
38	chr15:49742800-49748000	Weak transcription	Fetal Heart	heart
39	chr15:49742800-49750400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr15:49743000-49744600	Weak transcription	Colon Smooth Muscle	Colon
41	chr15:49743000-49744600	Weak transcription	Osteobl	bone
42	chr15:49743000-49745600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr15:49743000-49748000	Weak transcription	Fetal Lung	lung
44	chr15:49743200-49744400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr15:49743200-49745800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr15:49743200-49747200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr15:49743200-49748400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr15:49744200-49744400	Enhancers	NHDF-Ad	bronchial
49	chr15:49744200-49744600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr15:49744400-49744800	Weak transcription	NHDF-Ad	bronchial

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