Variant report

Variant	rs6768217
Chromosome Location	chr3:143046193-143046194
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:143039326..143043088-chr3:143044192..143047844,4	K562	blood:
2	chr3:143043771..143046677-chr3:143047093..143049794,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10446325	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs10804689	0.84[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs10804690	0.84[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs10804691	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10935488	0.93[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs10935489	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1112189	0.82[CEU][hapmap]
rs11915857	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12488603	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs12493355	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12633063	0.83[CHB][hapmap];0.80[ASN][1000 genomes]
rs13066661	0.84[CHB][hapmap];0.80[ASN][1000 genomes]
rs13067348	0.84[CHB][hapmap];0.80[ASN][1000 genomes]
rs1393071	0.92[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1501628	0.84[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs1501629	0.83[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs1550547	0.92[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs16853428	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853431	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17574671	0.83[CEU][hapmap]
rs17636943	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs17637467	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs1837784	0.84[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs2165518	0.83[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs2352725	0.84[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs2883015	0.83[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs6440163	0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6440164	0.83[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs6769555	0.83[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs6770495	0.80[CHB][hapmap]
rs6799793	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs6806677	0.84[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs729509	0.94[ASN][1000 genomes]
rs729511	0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs7632299	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7652901	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9332458	0.92[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs963885	0.83[CHB][hapmap];0.80[ASN][1000 genomes]
rs968586	0.83[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs968587	0.89[JPT][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv2757894	chr3:142992697-143285979	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759184	chr3:142992697-143285979	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143022400-143048200	Weak transcription	Psoas Muscle	Psoas
2	chr3:143026600-143047400	Weak transcription	Spleen	Spleen
3	chr3:143033800-143048400	Weak transcription	Fetal Stomach	stomach
4	chr3:143034400-143047400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:143034400-143048600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:143043400-143048400	Weak transcription	Lung	lung
7	chr3:143044600-143046200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr3:143044800-143047400	Weak transcription	K562	blood
9	chr3:143045000-143046200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr3:143045000-143046600	Enhancers	Dnd41	blood
11	chr3:143045000-143046800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr3:143045200-143046200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr3:143045200-143046600	Enhancers	Primary B cells from peripheral blood	blood
14	chr3:143045200-143046600	Enhancers	Primary T cells from cord blood	blood
15	chr3:143045400-143046600	Enhancers	Primary B cells from cord blood	blood
16	chr3:143045600-143046200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:143045600-143046400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr3:143045600-143046400	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr3:143045600-143046600	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr3:143045600-143046600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr3:143045600-143047600	Weak transcription	Fetal Thymus	thymus
22	chr3:143045600-143050600	Enhancers	Fetal Lung	lung
23	chr3:143045800-143046600	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr3:143045800-143046800	Enhancers	HUVEC	blood vessel
25	chr3:143046000-143046200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:143046000-143046400	Weak transcription	Adipose Nuclei	Adipose

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