Variant report

Variant	rs950427
Chromosome Location	chr3:143074965-143074966
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:143073365..143075780-chr3:143077862..143079884,2	K562	blood:
2	chr3:143070031..143071586-chr3:143073564..143076244,2	K562	blood:
3	chr3:143071861..143075412-chr3:143075859..143077751,4	K562	blood:
4	chr3:143073351..143075780-chr3:143076251..143080121,5	K562	blood:
5	chr3:143067819..143069970-chr3:143072311..143075469,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10513206	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];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12631011	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12638374	1.00[CEU][hapmap]
rs1587588	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16846337	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16853472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16853475	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16853555	0.88[TSI][hapmap]
rs16853564	0.88[TSI][hapmap]
rs17639455	1.00[ASW][hapmap]
rs4839592	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61033065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6765388	0.88[TSI][hapmap]
rs6767272	1.00[CEU][hapmap]

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	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
4	nsv877564	chr3:143059952-143116883	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr3:143063600-143076400	Weak transcription	Brain Anterior Caudate	brain
2	chr3:143068200-143078400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:143068200-143091800	Weak transcription	Lung	lung
4	chr3:143068800-143082000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr3:143069000-143080800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr3:143069000-143081600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr3:143069200-143080600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr3:143069800-143081200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr3:143070200-143088600	Weak transcription	Aorta	Aorta
10	chr3:143071200-143081600	Weak transcription	Fetal Lung	lung
11	chr3:143071600-143102400	Weak transcription	Esophagus	oesophagus
12	chr3:143072000-143076600	Weak transcription	HUVEC	blood vessel
13	chr3:143072000-143099400	Weak transcription	Ovary	ovary
14	chr3:143072200-143077000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:143072200-143077000	Weak transcription	Spleen	Spleen
16	chr3:143072200-143081200	Weak transcription	Adipose Nuclei	Adipose
17	chr3:143072400-143077000	Weak transcription	Brain Substantia Nigra	brain
18	chr3:143072400-143077000	Weak transcription	Dnd41	blood
19	chr3:143072400-143081200	Weak transcription	Fetal Thymus	thymus
20	chr3:143072400-143082200	Weak transcription	Primary B cells from cord blood	blood
21	chr3:143072400-143083000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr3:143072400-143083000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr3:143073400-143077000	Weak transcription	Gastric	stomach
24	chr3:143073400-143089600	Weak transcription	Psoas Muscle	Psoas
25	chr3:143073600-143076400	Weak transcription	Stomach Mucosa	stomach
26	chr3:143073800-143077800	Weak transcription	Pancreas	Pancrea

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