Variant report

Variant	rs12633124
Chromosome Location	chr3:143281983-143281984
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10513210	0.92[ASW][hapmap];0.87[CEU][hapmap];0.83[GIH][hapmap];0.86[LWK][hapmap];0.94[TSI][hapmap];0.85[YRI][hapmap];0.81[EUR][1000 genomes]
rs11716124	0.89[TSI][hapmap]
rs11922063	0.93[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs1525861	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.92[MEX][hapmap];0.90[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16853767	0.87[CEU][hapmap];0.82[GIH][hapmap]
rs16853772	0.93[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs4024563	0.83[TSI][hapmap]
rs4271909	0.92[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs57077045	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58563413	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6779379	0.81[EUR][1000 genomes]
rs6784124	0.83[GIH][hapmap]
rs72999736	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][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	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	nsv829745	chr3:143278512-143405626	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143256000-143305600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr3:143270600-143304800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr3:143277400-143282400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr3:143277400-143292400	Weak transcription	Brain Hippocampus Middle	brain
5	chr3:143277400-143301200	Weak transcription	Esophagus	oesophagus
6	chr3:143277400-143303600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:143277400-143310200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr3:143277600-143284200	Weak transcription	Brain Substantia Nigra	brain
9	chr3:143277600-143292400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr3:143278200-143284000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr3:143278600-143285200	Weak transcription	Primary B cells from cord blood	blood
12	chr3:143279000-143296200	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr3:143280600-143283000	Enhancers	Dnd41	blood
14	chr3:143280800-143282600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:143281000-143282000	Enhancers	Fetal Thymus	thymus
16	chr3:143281400-143292200	Weak transcription	Primary T cells from cord blood	blood
17	chr3:143281600-143283400	Enhancers	K562	blood
18	chr3:143281800-143282000	Enhancers	Stomach Mucosa	stomach
19	chr3:143281800-143282200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:143281800-143282800	Enhancers	Fetal Lung	lung

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