Variant report

Variant	rs2576308
Chromosome Location	chr15:34392475-34392476
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:34391885..34395742-chr15:34500701..34502399,4	K562	blood:
2	chr15:34391770..34396248-chr15:34515474..34518631,5	K562	blood:
3	chr15:34391496..34393371-chr15:34874535..34876931,2	K562	blood:
4	chr15:34389885..34392673-chr15:34392994..34394930,2	MCF-7	breast:
5	chr15:34391225..34395745-chr15:34498845..34504196,8	K562	blood:
6	chr15:34390233..34392584-chr15:34504198..34505938,2	K562	blood:

Variant related genes	Relation type
ENSG00000128463	Chromatin interaction
ENSG00000215252	Chromatin interaction
ENSG00000134153	Chromatin interaction
ENSG00000182405	Chromatin interaction
ENSG00000134152	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11072954	0.93[EUR][1000 genomes]
rs11634597	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs11853879	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11856158	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs12592547	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs12592856	0.85[EUR][1000 genomes]
rs12594048	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12903028	0.85[EUR][1000 genomes]
rs1436923	0.87[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16958770	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1865925	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2339374	0.85[EUR][1000 genomes]
rs2568532	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576310	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28376576	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3794593	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4288968	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4468578	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs4780214	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4780215	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4780216	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs522397	0.81[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs56310728	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57205845	0.85[ASN][1000 genomes]
rs623941	0.87[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6495519	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161835	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7163226	0.96[EUR][1000 genomes]
rs7182085	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs721122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73374335	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8028703	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8038259	1.00[CEU][hapmap];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456789	chr15:34034421-34426618	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv568920	chr15:34034421-34426618	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv471235	chr15:34035529-34421951	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1035579	chr15:34363159-34501115	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34358600-34393000	Weak transcription	Aorta	Aorta
2	chr15:34372800-34393200	Weak transcription	Colonic Mucosa	Colon
3	chr15:34374200-34392800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr15:34374800-34393000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr15:34375000-34392800	Weak transcription	Fetal Heart	heart
6	chr15:34375000-34393000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr15:34376000-34392800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr15:34378600-34392600	Weak transcription	Fetal Kidney	kidney
9	chr15:34378800-34393000	Weak transcription	Lung	lung
10	chr15:34379000-34393000	Weak transcription	Esophagus	oesophagus
11	chr15:34380200-34392800	Weak transcription	HSMMtube	muscle
12	chr15:34380200-34393000	Weak transcription	Ovary	ovary
13	chr15:34380200-34393400	Weak transcription	Gastric	stomach
14	chr15:34381200-34393400	Weak transcription	Pancreas	Pancrea
15	chr15:34382600-34392800	Weak transcription	Fetal Muscle Leg	muscle
16	chr15:34387000-34392600	Weak transcription	Fetal Intestine Small	intestine
17	chr15:34387400-34392800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr15:34387600-34392600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr15:34387800-34392600	Weak transcription	Colon Smooth Muscle	Colon
20	chr15:34387800-34392800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr15:34387800-34392800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr15:34387800-34392800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr15:34388200-34392600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr15:34388200-34392800	Weak transcription	NH-A	brain
25	chr15:34388400-34392600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr15:34388400-34392600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr15:34388400-34392600	Weak transcription	HSMM	muscle
28	chr15:34388400-34392800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr15:34388400-34392800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr15:34388400-34393200	Weak transcription	Placenta	Placenta
31	chr15:34388600-34392600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr15:34388800-34393000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr15:34390200-34392800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr15:34390600-34392600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:34390600-34393000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr15:34391400-34392600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr15:34391600-34392600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr15:34391600-34392600	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr15:34391600-34392600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr15:34391600-34392600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr15:34391600-34392600	Enhancers	Brain Anterior Caudate	brain
42	chr15:34391600-34392600	Enhancers	Duodenum Mucosa	Duodenum
43	chr15:34391600-34392600	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr15:34391600-34392600	Enhancers	Fetal Brain Female	brain
45	chr15:34391600-34392600	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr15:34391600-34392600	Enhancers	NHEK	skin
47	chr15:34391600-34392800	Enhancers	Primary hematopoietic stem cells	blood
48	chr15:34391600-34392800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr15:34391600-34392800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr15:34391600-34392800	Enhancers	Cortex derived primary cultured neurospheres	brain

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