Variant report

Variant	rs8039711
Chromosome Location	chr15:42957180-42957181
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	chr15:42951576..42953630-chr15:42956169..42957965,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10162939	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs10400824	0.97[AFR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10518779	0.90[JPT][hapmap]
rs1058846	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs11638835	0.83[EUR][1000 genomes]
rs1197550	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs1197551	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs12324135	0.87[YRI][hapmap]
rs12594855	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs12902830	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs12903762	0.90[EUR][1000 genomes]
rs12905385	0.84[CEU][hapmap];0.85[CHB][hapmap];0.80[YRI][hapmap];0.84[EUR][1000 genomes]
rs12905592	0.82[EUR][1000 genomes]
rs12907826	0.83[EUR][1000 genomes]
rs12911585	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12913618	0.80[EUR][1000 genomes]
rs12914570	0.89[CEU][hapmap];0.81[JPT][hapmap];0.86[YRI][hapmap]
rs12915116	0.84[CEU][hapmap]
rs16957020	0.88[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16957043	0.96[YRI][hapmap]
rs16957168	0.90[JPT][hapmap]
rs1705356	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs17774047	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs2136899	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2136900	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2136901	0.85[EUR][1000 genomes]
rs2175370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2305084	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2305085	1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs2412741	0.84[EUR][1000 genomes]
rs28498538	0.81[ASN][1000 genomes]
rs28562951	0.90[ASN][1000 genomes]
rs28664781	0.93[ASN][1000 genomes]
rs28744617	0.88[ASN][1000 genomes]
rs28798437	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28811114	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28823029	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs3099758	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs34070722	0.90[EUR][1000 genomes]
rs34191150	0.85[EUR][1000 genomes]
rs34603230	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35392023	0.86[EUR][1000 genomes]
rs35538776	0.84[CEU][hapmap]
rs35616173	0.85[EUR][1000 genomes]
rs35738819	0.93[EUR][1000 genomes]
rs3742988	0.84[EUR][1000 genomes]
rs3742993	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4545789	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.97[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4923950	0.94[EUR][1000 genomes]
rs4924690	0.90[CEU][hapmap];0.80[EUR][1000 genomes]
rs4924691	0.90[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4924692	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4924694	0.88[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57298545	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs58938096	0.90[EUR][1000 genomes]
rs61122145	0.87[EUR][1000 genomes]
rs623271	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs6493059	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6493060	0.89[CEU][hapmap];0.90[EUR][1000 genomes]
rs6493061	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs6493062	0.84[EUR][1000 genomes]
rs66681258	0.86[EUR][1000 genomes]
rs672054	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs71474496	0.87[EUR][1000 genomes]
rs7163030	0.84[CEU][hapmap]
rs7166373	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7167392	0.81[JPT][hapmap]
rs7169202	0.85[CEU][hapmap]
rs7174041	0.82[EUR][1000 genomes]
rs7175582	0.90[JPT][hapmap]
rs7176860	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7182141	0.90[JPT][hapmap]
rs7182479	0.85[EUR][1000 genomes]
rs7182515	0.90[JPT][hapmap]
rs7183487	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs731984	0.83[EUR][1000 genomes]
rs8023524	0.85[CEU][hapmap];0.86[CHB][hapmap];0.85[EUR][1000 genomes]
rs8024902	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8028785	0.90[JPT][hapmap]
rs8030587	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs8031218	0.94[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8034447	0.84[EUR][1000 genomes]
rs8039765	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8043472	0.89[CEU][hapmap]
rs9269	1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs938047	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9919994	0.90[JPT][hapmap]
rs9920163	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9920202	0.91[JPT][hapmap]
rs9944248	0.93[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	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

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42898000-42967800	Weak transcription	Fetal Intestine Small	intestine
2	chr15:42908800-43015000	Weak transcription	Fetal Kidney	kidney
3	chr15:42909600-42966400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr15:42923000-42958200	Weak transcription	Hela-S3	cervix
5	chr15:42925200-42966000	Weak transcription	NH-A	brain
6	chr15:42925200-42966800	Weak transcription	NHLF	lung
7	chr15:42925600-42961000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr15:42928200-42973600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr15:42928200-42974000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr15:42930600-42964000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr15:42930800-42957400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:42931200-42963400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:42931800-42957200	Weak transcription	Primary B cells from cord blood	blood
14	chr15:42931800-42958200	Weak transcription	Brain Angular Gyrus	brain
15	chr15:42931800-42968000	Weak transcription	HSMM	muscle
16	chr15:42932000-42958400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr15:42932200-42966200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr15:42932400-42960000	Weak transcription	Primary T cells from cord blood	blood
19	chr15:42939200-42961200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr15:42940400-42967800	Weak transcription	HepG2	liver
21	chr15:42942800-42967200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr15:42942800-42973600	Weak transcription	Psoas Muscle	Psoas
23	chr15:42943000-42957600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr15:42945200-42973400	Weak transcription	Thymus	Thymus
25	chr15:42945800-42960800	Weak transcription	GM12878-XiMat	blood
26	chr15:42947000-42964400	Weak transcription	Spleen	Spleen
27	chr15:42948600-42961200	Weak transcription	HSMMtube	muscle
28	chr15:42949800-42999200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr15:42950000-42969400	Weak transcription	K562	blood
30	chr15:42950200-42963200	Weak transcription	Fetal Heart	heart
31	chr15:42950400-42990200	Strong transcription	Fetal Stomach	stomach
32	chr15:42951000-42995000	Strong transcription	Fetal Muscle Trunk	muscle
33	chr15:42952200-42973400	Weak transcription	Gastric	stomach
34	chr15:42952400-42970800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr15:42952600-42979000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr15:42952600-42995600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr15:42952800-42959000	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr15:42952800-42961400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr15:42952800-42967000	Weak transcription	Right Ventricle	heart
40	chr15:42952800-42996000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr15:42953000-42958800	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr15:42953200-42970000	Strong transcription	Adipose Nuclei	Adipose
43	chr15:42953200-42970200	Strong transcription	Stomach Smooth Muscle	stomach
44	chr15:42953400-42959800	Strong transcription	Ovary	ovary
45	chr15:42953400-42961800	Strong transcription	Primary hematopoietic stem cells	blood
46	chr15:42953400-42992200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr15:42953600-42963000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr15:42953600-42963000	Weak transcription	NHEK	skin
49	chr15:42953600-42967800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr15:42954000-42960800	Weak transcription	Fetal Intestine Large	intestine

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