Variant report

Variant	rs4839591
Chromosome Location	chr3:142926299-142926300
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:142921678..142924452-chr3:142925121..142926893,2	K562	blood:
2	chr3:142926220..142927861-chr3:142959735..142962076,2	K562	blood:
3	chr3:142925537..142928123-chr3:142932131..142934327,2	K562	blood:
4	chr3:142917669..142921522-chr3:142924910..142927664,3	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10935485	0.81[ASN][1000 genomes]
rs11708440	0.84[ASN][1000 genomes]
rs11715203	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1667711	0.88[EUR][1000 genomes]
rs1667712	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs169808	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17470719	0.84[ASN][1000 genomes]
rs186077	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2165519	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2165520	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2165521	0.85[ASN][1000 genomes]
rs2583458	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2596616	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs294465	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs294468	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs294469	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs294470	0.93[ASN][1000 genomes]
rs294471	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs294472	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs294473	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4371486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4683461	0.83[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs4839588	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4839616	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4839617	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4839618	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4839619	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4839621	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4839625	0.81[ASN][1000 genomes]
rs4839629	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4839637	0.85[ASN][1000 genomes]
rs4839656	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs54520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57923975	0.84[ASN][1000 genomes]
rs6414352	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6440149	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6440150	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6440151	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6440152	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6440153	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6440154	0.85[ASN][1000 genomes]
rs6765181	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6767762	0.81[ASN][1000 genomes]
rs6772917	0.85[ASN][1000 genomes]
rs6776634	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6777882	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6778330	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6781821	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6781909	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6785002	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6785085	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6786129	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6787156	0.84[ASN][1000 genomes]
rs6788806	0.81[ASN][1000 genomes]
rs6795908	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6796353	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6803862	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7611317	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7622977	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7632649	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7642629	0.84[ASN][1000 genomes]
rs7646566	0.84[ASN][1000 genomes]
rs834906	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs834907	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs834908	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs834909	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs834910	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9289656	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9289657	0.82[ASN][1000 genomes]
rs9809153	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9821086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9830629	0.85[ASN][1000 genomes]
rs9847552	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs990738	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs991419	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv508250	chr3:142842454-142943722	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv34280	chr3:142887460-142962075	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv818171	chr3:142894411-142960273	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1009573	chr3:142896048-142959777	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv2757014	chr3:142905661-142964373	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142924800-142927000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:142925000-142927600	Weak transcription	Primary T cells from cord blood	blood
3	chr3:142925200-142926800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:142925200-142927000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:142925600-142926600	Enhancers	Primary B cells from peripheral blood	blood
6	chr3:142925600-142926800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:142925600-142926800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:142925800-142926400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:142925800-142926400	Enhancers	HSMM	muscle
10	chr3:142925800-142926400	Enhancers	NHLF	lung
11	chr3:142925800-142926800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:142925800-142927000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr3:142925800-142927400	Enhancers	K562	blood
14	chr3:142925800-142932200	Enhancers	Fetal Thymus	thymus
15	chr3:142926000-142926400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr3:142926000-142926400	Enhancers	Brain Anterior Caudate	brain
17	chr3:142926000-142926400	Enhancers	A549	lung
18	chr3:142926000-142926600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr3:142926000-142926600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:142926000-142926600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr3:142926000-142926600	Enhancers	Primary B cells from cord blood	blood
22	chr3:142926000-142926600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr3:142926000-142926600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr3:142926000-142926600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr3:142926000-142926600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:142926000-142926600	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr3:142926000-142926800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:142926000-142926800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr3:142926000-142927000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr3:142926000-142927000	Flanking Active TSS	GM12878-XiMat	blood
31	chr3:142926000-142929800	Enhancers	Thymus	Thymus
32	chr3:142926200-142926600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr3:142926200-142926600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:142926200-142926600	Enhancers	H9 Cell Line	embryonic stem cell
35	chr3:142926200-142926600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:142926200-142926600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:142926200-142926600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr3:142926200-142926800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr3:142926200-142927200	Flanking Active TSS	Dnd41	blood

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