Variant report

Variant	rs12902830
Chromosome Location	chr15:42997382-42997383
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42996049..42999040-chr15:43025539..43027255,2	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10162939	0.84[CEU][hapmap]
rs1058846	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11638835	0.85[EUR][1000 genomes]
rs1197550	0.84[CEU][hapmap]
rs1197551	0.84[CEU][hapmap]
rs12102055	0.81[CEU][hapmap]
rs12594855	0.89[CEU][hapmap]
rs12903762	0.92[EUR][1000 genomes]
rs12905385	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs12905592	0.83[EUR][1000 genomes]
rs12907826	0.84[EUR][1000 genomes]
rs12908349	1.00[ASN][1000 genomes]
rs12911585	0.94[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12913618	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12914380	1.00[ASN][1000 genomes]
rs12914570	0.83[CEU][hapmap]
rs12915116	0.89[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957020	0.82[CEU][hapmap]
rs1705356	0.83[CEU][hapmap]
rs17774047	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2136899	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs2136900	0.85[CEU][hapmap]
rs2136901	0.87[EUR][1000 genomes]
rs2175370	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs2280048	0.81[CEU][hapmap]
rs2305085	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs2412741	0.80[CEU][hapmap];0.83[EUR][1000 genomes]
rs28562951	0.80[EUR][1000 genomes]
rs3099758	0.83[CEU][hapmap]
rs34070722	0.80[EUR][1000 genomes]
rs34191150	0.87[EUR][1000 genomes]
rs34603230	0.86[EUR][1000 genomes]
rs34745458	1.00[ASN][1000 genomes]
rs35088691	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35202249	1.00[ASN][1000 genomes]
rs35298309	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35392023	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35538776	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs35616173	0.87[EUR][1000 genomes]
rs35738819	0.82[EUR][1000 genomes]
rs36092914	1.00[ASN][1000 genomes]
rs3742988	0.83[EUR][1000 genomes]
rs3742993	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs4545789	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs4923950	0.81[EUR][1000 genomes]
rs4924690	0.84[CEU][hapmap]
rs4924691	0.84[CEU][hapmap]
rs4924692	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs4924694	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs4924699	1.00[ASN][1000 genomes]
rs4994112	0.84[CEU][hapmap]
rs57298545	0.86[EUR][1000 genomes]
rs57481952	0.81[AFR][1000 genomes]
rs58938096	0.92[EUR][1000 genomes]
rs61122145	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs623271	0.83[CEU][hapmap]
rs6493059	0.83[CEU][hapmap]
rs6493060	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs6493061	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs6493062	0.85[EUR][1000 genomes]
rs66681258	0.86[EUR][1000 genomes]
rs66932813	1.00[ASN][1000 genomes]
rs672054	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs71474496	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7166373	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs7174041	0.80[EUR][1000 genomes]
rs7176860	0.93[EUR][1000 genomes]
rs7182479	0.87[EUR][1000 genomes]
rs7183487	0.92[EUR][1000 genomes]
rs72713784	1.00[ASN][1000 genomes]
rs72713795	1.00[ASN][1000 genomes]
rs72719486	1.00[ASN][1000 genomes]
rs731984	0.84[EUR][1000 genomes]
rs8023524	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs8024902	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs8030587	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs8031218	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs8034447	0.83[EUR][1000 genomes]
rs8037613	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8039711	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs8039765	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs8043472	0.83[CEU][hapmap]
rs9269	0.84[CEU][hapmap]
rs938047	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs9920163	0.83[CEU][hapmap]
rs9944248	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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:81 , 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	chr15:42968600-42999000	Weak transcription	HUVEC	blood vessel
4	chr15:42975600-43011400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr15:42976600-43015200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:42977000-42999400	Weak transcription	HepG2	liver
7	chr15:42977000-43011600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr15:42977000-43016600	Weak transcription	Hela-S3	cervix
9	chr15:42978200-43010400	Weak transcription	Thymus	Thymus
10	chr15:42978800-43012000	Weak transcription	NH-A	brain
11	chr15:42979200-43011000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr15:42979600-43010000	Weak transcription	GM12878-XiMat	blood
13	chr15:42979800-43010600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr15:42980200-43002800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:42980400-43010400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr15:42981400-42999400	Weak transcription	HMEC	breast
17	chr15:42981400-43015000	Weak transcription	HSMM	muscle
18	chr15:42981600-42999400	Weak transcription	NHEK	skin
19	chr15:42981600-43009800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:42981600-43011000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr15:42981800-43010000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr15:42982000-42999400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr15:42984000-43014800	Weak transcription	K562	blood
24	chr15:42986000-43018400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr15:42987200-43010000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr15:42987800-43008800	Weak transcription	Aorta	Aorta
27	chr15:42987800-43016400	Weak transcription	Esophagus	oesophagus
28	chr15:42988000-43010200	Weak transcription	Colonic Mucosa	Colon
29	chr15:42988200-43010200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr15:42988400-42999400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:42988400-43001400	Weak transcription	Lung	lung
32	chr15:42988400-43008200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr15:42988400-43008600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr15:42988400-43009600	Weak transcription	Fetal Intestine Small	intestine
35	chr15:42988400-43010600	Weak transcription	NHLF	lung
36	chr15:42988600-43008400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr15:42989000-43008800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr15:42989000-43009000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr15:42989000-43010000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr15:42989000-43010400	Weak transcription	Placenta	Placenta
41	chr15:42989000-43011800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr15:42989200-43009600	Weak transcription	Left Ventricle	heart
43	chr15:42989200-43010200	Weak transcription	Brain Angular Gyrus	brain
44	chr15:42989200-43010200	Weak transcription	Ovary	ovary
45	chr15:42989800-43009000	Weak transcription	Right Ventricle	heart
46	chr15:42990000-43009000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr15:42990200-42999200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr15:42991000-43008600	Weak transcription	NHDF-Ad	bronchial
49	chr15:42992400-43008600	Weak transcription	Fetal Brain Female	brain
50	chr15:42993400-42999400	Weak transcription	Colon Smooth Muscle	Colon

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