Variant report

Variant	nsv819906
Chromosome Location	chr15:34585431-34597560
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:34593477-34593641	HepG2	liver:	n/a	chr15:34593519-34593535
2	BACH1	chr15:34597385-34597505	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr15:34589603-34589889	GM12878	blood:	n/a	n/a
4	BHLHE40	chr15:34596867-34597078	HepG2	liver:	n/a	n/a
5	CEBPB	chr15:34597069-34597395	A549	lung:	n/a	chr15:34597235-34597248 chr15:34597235-34597246 chr15:34597236-34597247
6	CEBPB	chr15:34597053-34597395	HepG2	liver:	n/a	chr15:34597235-34597248 chr15:34597235-34597246 chr15:34597236-34597247
7	CEBPB	chr15:34586202-34586390	IMR90	lung:	n/a	chr15:34586341-34586352
8	CEBPB	chr15:34586202-34586390	HepG2	liver:	n/a	chr15:34586341-34586352
9	CEBPB	chr15:34596912-34597413	IMR90	lung:	n/a	chr15:34597235-34597248 chr15:34597235-34597246 chr15:34597236-34597247
10	CEBPB	chr15:34597092-34597303	K562	blood:	n/a	chr15:34597235-34597248 chr15:34597235-34597246 chr15:34597236-34597247
11	CUX1	chr15:34588405-34588431	GM12878	blood:	n/a	n/a
12	ELK1	chr15:34589801-34589807	GM12878	blood:	n/a	n/a
13	EP300	chr15:34596780-34597235	HepG2	liver:	n/a	chr15:34596909-34596918
14	EP300	chr15:34589285-34589572	GM12878	blood:	n/a	n/a
15	FOS	chr15:34593425-34593492	MCF10A-Er-Src	breast:	n/a	chr15:34593463-34593471 chr15:34593464-34593475
16	FOS	chr15:34593320-34593588	MCF10A-Er-Src	breast:	n/a	chr15:34593463-34593471 chr15:34593464-34593475
17	FOS	chr15:34593319-34593524	MCF10A-Er-Src	breast:	n/a	chr15:34593463-34593471 chr15:34593464-34593475
18	FOSL2	chr15:34593283-34593528	HepG2	liver:	n/a	chr15:34593463-34593471 chr15:34593464-34593475
19	FOXA1	chr15:34596751-34597380	HepG2	liver:	n/a	n/a
20	FOXA1	chr15:34593344-34593592	HepG2	liver:	n/a	n/a
21	FOXA1	chr15:34596768-34597167	HepG2	liver:	n/a	n/a
22	FOXA2	chr15:34593329-34593608	HepG2	liver:	n/a	n/a
23	JUND	chr15:34593346-34593591	HepG2	liver:	n/a	chr15:34593461-34593472 chr15:34593463-34593471 chr15:34593464-34593475
24	MAFF	chr15:34596855-34597143	HepG2	liver:	n/a	n/a
25	MAFK	chr15:34596895-34597181	HepG2	liver:	n/a	n/a
26	MAFK	chr15:34596801-34597176	IMR90	lung:	n/a	n/a
27	MAFK	chr15:34596895-34597107	HepG2	liver:	n/a	n/a
28	MEF2A	chr15:34589178-34589624	GM12878	blood:	n/a	chr15:34589297-34589314
29	NFIC	chr15:34589216-34589740	GM12878	blood:	n/a	n/a
30	NR2F2	chr15:34593303-34593536	MCF-7	breast:	n/a	n/a
31	POLR2A	chr15:34592651-34592659	ProgFib	skin:	n/a	n/a
32	POLR2A	chr15:34592521-34592660	GM12878	blood:	n/a	n/a
33	POLR2A	chr15:34589314-34589409	GM12878	blood:	n/a	n/a
34	POLR2A	chr15:34594908-34594915	Gliobla	brain:	n/a	n/a
35	POLR2A	chr15:34596117-34596281	GM12891	blood:	n/a	n/a
36	POLR2A	chr15:34595834-34595843	GM12878	blood:	n/a	n/a
37	POLR2A	chr15:34593758-34593778	GM12878	blood:	n/a	n/a
38	POLR2A	chr15:34593780-34594021	GM12878	blood:	n/a	n/a
39	RUNX3	chr15:34589549-34589931	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:34584866..34587109-chr15:34608710..34611023,2	K562	blood:
2	chr15:34594934..34596711-chr15:34606010..34608946,2	K562	blood:
3	chr15:34590151..34592277-chr15:34605995..34607909,2	K562	blood:
4	chr15:34597292..34600237-chr15:34600566..34603010,2	K562	blood:

Variant related genes	Relation type
SLC12A6	TF binding region
ENSG00000140199	chromatin interactions
ENSG00000207091	chromatin interactions

Extended variants
information (count: 462 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:462 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111530095	chr15:34585456-34585457	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs113157174	chr15:34585471-34585472	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs578245004	chr15:34585487-34585488	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs188642066	chr15:34585514-34585515	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs111912581	chr15:34585518-34585519	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs563988825	chr15:34585567-34585568	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs181064713	chr15:34585573-34585574	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs542699722	chr15:34585575-34585576	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs8033545	chr15:34585576-34585577	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs528609693	chr15:34585630-34585631	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs563432016	chr15:34585725-34585726	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs8035044	chr15:34585732-34585733	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs146391760	chr15:34585797-34585798	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs347817	chr15:34585810-34585811	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs138990471	chr15:34585828-34585829	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs533945720	chr15:34585848-34585849	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs569855673	chr15:34585874-34585875	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs116711630	chr15:34585895-34585896	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs373443915	chr15:34585907-34585908	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs570873068	chr15:34585916-34585917	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs555110882	chr15:34585929-34585930	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs567340370	chr15:34585936-34585937	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs568599237	chr15:34585947-34585948	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs117522859	chr15:34585953-34585954	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs368385498	chr15:34585978-34585979	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs370120682	chr15:34585987-34585988	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs143732728	chr15:34585988-34585989	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs190840814	chr15:34585997-34585998	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs182554868	chr15:34586003-34586004	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs575885852	chr15:34586005-34586006	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs527984786	chr15:34586015-34586016	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs542989725	chr15:34586025-34586026	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs547230841	chr15:34586098-34586099	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs187634397	chr15:34586103-34586104	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs573209737	chr15:34586138-34586139	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs376139789	chr15:34586158-34586159	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs565046969	chr15:34586163-34586164	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs34102117	chr15:34586197-34586198	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs368459401	chr15:34586226-34586227	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs532915208	chr15:34586242-34586243	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs551209426	chr15:34586258-34586259	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs147217784	chr15:34586276-34586277	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs570842977	chr15:34586279-34586280	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs191910805	chr15:34586280-34586281	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs548942934	chr15:34586304-34586305	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs79150466	chr15:34586357-34586358	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs534619093	chr15:34586372-34586373	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs546680939	chr15:34586455-34586456	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs370460120	chr15:34586472-34586473	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs528468626	chr15:34586488-34586489	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Hodgkin''s lymphoma	18641027	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	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
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prader-willi syndrome	21504564	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:228 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34547600-34591200	Weak transcription	Aorta	Aorta
2	chr15:34548200-34592600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr15:34550000-34587400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr15:34551200-34608800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr15:34555200-34606600	Weak transcription	Thymus	Thymus
6	chr15:34577600-34590800	Weak transcription	Primary T cells from cord blood	blood
7	chr15:34577600-34608800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr15:34577600-34610200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr15:34577800-34589600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr15:34577800-34593200	Weak transcription	HepG2	liver
11	chr15:34577800-34608800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr15:34578000-34589600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr15:34578200-34606800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr15:34579000-34603800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr15:34582200-34599000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr15:34582600-34586200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr15:34582600-34609600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr15:34582600-34610200	Weak transcription	Fetal Lung	lung
19	chr15:34583200-34588800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr15:34583400-34588800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr15:34583400-34609600	Weak transcription	Adipose Nuclei	Adipose
22	chr15:34583600-34586600	Weak transcription	Colonic Mucosa	Colon
23	chr15:34583600-34593600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:34583800-34610600	Weak transcription	Pancreas	Pancrea
25	chr15:34584000-34586400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr15:34584000-34586600	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr15:34584400-34586200	Strong transcription	Primary B cells from cord blood	blood
28	chr15:34584400-34587000	ZNF genes & repeats	Fetal Intestine Small	intestine
29	chr15:34584600-34585800	ZNF genes & repeats	Fetal Intestine Large	intestine
30	chr15:34584600-34587800	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr15:34584600-34588800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr15:34584800-34587600	ZNF genes & repeats	GM12878-XiMat	blood
33	chr15:34584800-34589200	Weak transcription	Colon Smooth Muscle	Colon
34	chr15:34585000-34585600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:34585000-34585800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr15:34585000-34588800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr15:34585000-34609600	Weak transcription	Spleen	Spleen
38	chr15:34585000-34610600	Weak transcription	Lung	lung
39	chr15:34585200-34585600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr15:34585200-34585600	Weak transcription	Right Ventricle	heart
41	chr15:34585200-34586400	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr15:34585200-34588600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr15:34585200-34588800	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr15:34585200-34589600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr15:34585200-34589600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr15:34585200-34589600	Weak transcription	Left Ventricle	heart
47	chr15:34585200-34596400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr15:34585200-34598600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr15:34585200-34609600	Weak transcription	Fetal Stomach	stomach
50	chr15:34585200-34615600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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