Variant report

Variant	nsv569351
Chromosome Location	chr15:49540216-49547146
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:49538461..49540714-chr15:49541925..49544059,3	K562	blood:
2	chr15:49535482..49538280-chr15:49538929..49540490,2	K562	blood:
3	chr15:49541585..49543251-chr15:49545018..49547358,2	K562	blood:
4	chr15:49538461..49540714-chr15:49541925..49544059,3	K562	blood:
5	chr15:49541585..49543251-chr15:49545018..49547358,2	K562	blood:

Extended variants
information (count: 235 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:235 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16962191	chr15:49540216-49540217	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576528493	chr15:49540230-49540231	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543806931	chr15:49540274-49540275	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565119140	chr15:49540335-49540336	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189193274	chr15:49540338-49540339	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541713803	chr15:49540476-49540477	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192471779	chr15:49540505-49540506	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560338527	chr15:49540513-49540514	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145341756	chr15:49540547-49540548	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185718075	chr15:49540555-49540556	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75135140	chr15:49540567-49540568	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117750102	chr15:49540603-49540604	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs58512531	chr15:49540613-49540614	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549773177	chr15:49540624-49540625	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs151070534	chr15:49540655-49540656	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372507589	chr15:49540676-49540677	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539359329	chr15:49540691-49540692	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189447429	chr15:49540751-49540752	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559434765	chr15:49540759-49540760	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368523057	chr15:49540821-49540822	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs16962194	chr15:49540844-49540845	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs201017421	chr15:49540865-49540866	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536812636	chr15:49540963-49540964	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555118003	chr15:49540976-49540977	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527881894	chr15:49540983-49540984	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549647958	chr15:49541018-49541019	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs576646110	chr15:49541037-49541038	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs537127541	chr15:49541038-49541039	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs558957791	chr15:49541044-49541045	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs16962196	chr15:49541068-49541069	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs180876280	chr15:49541069-49541070	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs538548768	chr15:49541070-49541071	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs117599480	chr15:49541147-49541148	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs369851950	chr15:49541198-49541199	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs112495513	chr15:49541238-49541239	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs146388754	chr15:49541239-49541240	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs75140703	chr15:49541252-49541253	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs560726320	chr15:49541275-49541276	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs4775803	chr15:49541278-49541279	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs186361777	chr15:49541285-49541286	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs564905247	chr15:49541374-49541375	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs531965658	chr15:49541387-49541388	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs141001487	chr15:49541393-49541394	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs566342524	chr15:49541446-49541447	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs536930256	chr15:49541449-49541450	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs149788919	chr15:49541476-49541477	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs570260354	chr15:49541510-49541511	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs188628038	chr15:49541523-49541524	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs181282859	chr15:49541542-49541543	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs34989350	chr15:49541596-49541597	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Aromatase excess syndrome	21470988	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49510000-49541800	Weak transcription	NHEK	skin
2	chr15:49518000-49541000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr15:49518200-49548600	Weak transcription	Aorta	Aorta
4	chr15:49518600-49557600	Weak transcription	Esophagus	oesophagus
5	chr15:49520400-49595600	Weak transcription	Right Ventricle	heart
6	chr15:49522000-49540400	Weak transcription	Stomach Mucosa	stomach
7	chr15:49522400-49559400	Weak transcription	Pancreas	Pancrea
8	chr15:49524600-49544800	Weak transcription	Lung	lung
9	chr15:49528000-49576000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr15:49528400-49547800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr15:49529200-49550600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr15:49529400-49544200	Weak transcription	Brain Anterior Caudate	brain
13	chr15:49529400-49545600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr15:49529600-49541600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr15:49531000-49540400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr15:49531000-49540600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr15:49531000-49542800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr15:49532000-49545000	Weak transcription	Fetal Thymus	thymus
19	chr15:49532200-49542600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr15:49532800-49545400	Weak transcription	HUVEC	blood vessel
21	chr15:49533000-49541400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr15:49533400-49548200	Weak transcription	HMEC	breast
23	chr15:49533800-49576200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr15:49535600-49541200	Weak transcription	Fetal Kidney	kidney
25	chr15:49535600-49557000	Weak transcription	Fetal Intestine Small	intestine
26	chr15:49535600-49564600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr15:49535600-49574200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr15:49535600-49574200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr15:49535800-49540400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr15:49535800-49541400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr15:49535800-49542000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr15:49535800-49545000	Weak transcription	Thymus	Thymus
33	chr15:49535800-49545600	Weak transcription	Fetal Intestine Large	intestine
34	chr15:49535800-49549200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr15:49535800-49563400	Weak transcription	NH-A	brain
36	chr15:49535800-49566800	Weak transcription	Left Ventricle	heart
37	chr15:49535800-49575800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr15:49536000-49541200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr15:49536000-49546800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr15:49536200-49540600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr15:49536200-49541000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr15:49536200-49541600	Weak transcription	GM12878-XiMat	blood
43	chr15:49536200-49547600	Weak transcription	Hela-S3	cervix
44	chr15:49536200-49549400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr15:49536200-49549800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr15:49536200-49553200	Weak transcription	Primary B cells from cord blood	blood
47	chr15:49537200-49541600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr15:49537600-49540400	Strong transcription	Primary T cells from cord blood	blood
49	chr15:49537600-49566000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr15:49537800-49540600	Weak transcription	Dnd41	blood

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