Variant report

Variant	rs12592374
Chromosome Location	chr15:42991299-42991300
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42983549..42985784-chr15:42989459..42991340,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs12323990	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12324135	0.87[EUR][1000 genomes]
rs12591415	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12592573	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594325	1.00[ASN][1000 genomes]
rs12594378	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12594600	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594696	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594699	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12594724	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594725	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594765	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594837	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12595722	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs16957043	1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs16957055	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16957061	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16957063	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957120	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1915242	0.87[EUR][1000 genomes]
rs1915243	1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs28431056	1.00[ASN][1000 genomes]
rs28437884	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28508072	0.80[AFR][1000 genomes]
rs28661826	1.00[ASN][1000 genomes]
rs28680600	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28699522	0.87[EUR][1000 genomes]
rs28736688	1.00[EUR][1000 genomes]
rs3742992	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3742995	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4334272	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56046122	1.00[ASN][1000 genomes]
rs56839966	0.87[EUR][1000 genomes]
rs58237318	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58548142	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60723187	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61747153	0.98[ASN][1000 genomes]
rs7169231	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7169238	0.85[ASN][1000 genomes]
rs7178483	1.00[EUR][1000 genomes]
rs73408611	0.87[EUR][1000 genomes]
rs73408619	1.00[EUR][1000 genomes]
rs73410923	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73410927	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410931	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410937	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410940	1.00[ASN][1000 genomes]
rs73410959	1.00[ASN][1000 genomes]
rs73410961	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410969	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410971	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410972	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410973	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410981	0.87[EUR][1000 genomes]
rs8023743	1.00[EUR][1000 genomes]
rs8028365	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8028699	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8033336	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8036733	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8043143	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9944270	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv427959	chr15:42931181-43207353	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv457122	chr15:42948862-43062548	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv569238	chr15:42948862-43062548	Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv517553	chr15:42970899-43023482	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
6	esv1812752	chr15:42988175-42994169	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3311736	chr15:42988779-42995374	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3311737	chr15:42988779-42995374	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv15854	chr15:42989012-42995070	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv2763096	chr15:42989603-43009399	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42908800-43015000	Weak transcription	Fetal Kidney	kidney
2	chr15:42949800-42999200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr15:42951000-42995000	Strong transcription	Fetal Muscle Trunk	muscle
4	chr15:42952600-42995600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr15:42952800-42996000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:42953400-42992200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:42966000-42992800	Strong transcription	Duodenum Smooth Muscle	Duodenum
8	chr15:42968400-42992200	Weak transcription	Fetal Brain Male	brain
9	chr15:42968600-42996800	Weak transcription	Liver	Liver
10	chr15:42968600-42999000	Weak transcription	HUVEC	blood vessel
11	chr15:42971400-42992600	Strong transcription	Adipose Nuclei	Adipose
12	chr15:42971600-42992400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr15:42973600-42992600	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr15:42975600-43011400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr15:42976600-42992200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr15:42976600-42996800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr15:42976600-43015200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr15:42977000-42999400	Weak transcription	HepG2	liver
19	chr15:42977000-43011600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr15:42977000-43016600	Weak transcription	Hela-S3	cervix
21	chr15:42978200-42996800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr15:42978200-43010400	Weak transcription	Thymus	Thymus
23	chr15:42978600-42992400	Weak transcription	Small Intestine	intestine
24	chr15:42978800-43012000	Weak transcription	NH-A	brain
25	chr15:42979000-42992600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr15:42979200-42992400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr15:42979200-43011000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr15:42979600-43010000	Weak transcription	GM12878-XiMat	blood
29	chr15:42979800-43010600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr15:42980200-43002800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr15:42980400-43010400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr15:42980800-42992400	Weak transcription	Fetal Heart	heart
33	chr15:42981400-42999400	Weak transcription	HMEC	breast
34	chr15:42981400-43015000	Weak transcription	HSMM	muscle
35	chr15:42981600-42999400	Weak transcription	NHEK	skin
36	chr15:42981600-43009800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr15:42981600-43011000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr15:42981800-43010000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr15:42982000-42999400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr15:42984000-42995800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr15:42984000-43014800	Weak transcription	K562	blood
42	chr15:42985200-42992000	Weak transcription	Fetal Lung	lung
43	chr15:42986000-43018400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr15:42987200-43010000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr15:42987800-43008800	Weak transcription	Aorta	Aorta
46	chr15:42987800-43016400	Weak transcription	Esophagus	oesophagus
47	chr15:42988000-42992000	Weak transcription	Brain Hippocampus Middle	brain
48	chr15:42988000-42993000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr15:42988000-43010200	Weak transcription	Colonic Mucosa	Colon
50	chr15:42988200-42992000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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