Variant report

Variant	rs894176
Chromosome Location	chr3:143033960-143033961
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr3:143033924-143034458	SK-N-SH	brain:	n/a	chr3:143033973-143033983 chr3:143033966-143033973

Variant related genes	Relation type
ENSG00000240888	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10446326	1.00[ASN][1000 genomes]
rs10804692	1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[EUR][1000 genomes]
rs11708401	1.00[ASN][1000 genomes]
rs11711068	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11716489	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11717437	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11718728	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11915421	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11915761	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11927016	1.00[CHB][hapmap]
rs13061014	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13072761	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13074801	0.81[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[YRI][hapmap];0.84[EUR][1000 genomes]
rs13081068	1.00[ASN][1000 genomes]
rs13099124	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1501624	1.00[ASN][1000 genomes]
rs1501631	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1604377	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1604380	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1609727	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs1610217	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17637392	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[EUR][1000 genomes]
rs1808882	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1812200	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[YRI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1846960	1.00[ASN][1000 genomes]
rs1875462	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1995356	0.84[CEU][hapmap];1.00[CHB][hapmap];0.96[TSI][hapmap];0.92[EUR][1000 genomes]
rs4839627	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs67478180	1.00[ASN][1000 genomes]
rs7627844	1.00[CHB][hapmap]
rs7642361	1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs7652557	1.00[CHB][hapmap]
rs9850863	0.89[CEU][hapmap];1.00[CHB][hapmap];0.87[TSI][hapmap];0.90[EUR][1000 genomes]
rs9862119	1.00[CHB][hapmap]

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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143015200-143039600	Weak transcription	Brain Substantia Nigra	brain
2	chr3:143018400-143039400	Weak transcription	Primary B cells from cord blood	blood
3	chr3:143022400-143048200	Weak transcription	Psoas Muscle	Psoas
4	chr3:143025600-143040000	Weak transcription	Right Atrium	heart
5	chr3:143026600-143047400	Weak transcription	Spleen	Spleen
6	chr3:143029400-143045800	Weak transcription	Adipose Nuclei	Adipose
7	chr3:143029800-143045200	Weak transcription	Primary T cells from cord blood	blood
8	chr3:143030200-143034600	Weak transcription	K562	blood
9	chr3:143031200-143034200	Enhancers	Dnd41	blood
10	chr3:143032000-143034400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:143032400-143034600	Enhancers	Fetal Lung	lung
12	chr3:143032400-143035000	Enhancers	NHDF-Ad	bronchial
13	chr3:143033000-143034400	Enhancers	Fetal Brain Male	brain
14	chr3:143033000-143035000	Enhancers	Brain Hippocampus Middle	brain
15	chr3:143033200-143034800	Enhancers	Brain Anterior Caudate	brain
16	chr3:143033400-143034600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:143033400-143036400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr3:143033600-143034400	Enhancers	Brain Cingulate Gyrus	brain
19	chr3:143033600-143034800	Weak transcription	Ovary	ovary
20	chr3:143033800-143034400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:143033800-143034400	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr3:143033800-143048400	Weak transcription	Fetal Stomach	stomach

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