Variant report

Variant	rs10936988
Chromosome Location	chr3:178712559-178712560
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	chr3:178708964..178712566-chr3:178712795..178715192,4	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10804875	0.84[ASN][1000 genomes]
rs10936987	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11715852	0.93[EUR][1000 genomes]
rs11716079	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11918186	0.93[EUR][1000 genomes]
rs11926798	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4245916	0.84[ASN][1000 genomes]
rs4254707	0.87[ASN][1000 genomes]
rs4328857	0.84[ASN][1000 genomes]
rs4583702	0.84[ASN][1000 genomes]
rs4955797	0.86[ASN][1000 genomes]
rs4955799	0.86[ASN][1000 genomes]
rs57935620	0.84[EUR][1000 genomes]
rs59942474	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61179484	0.93[EUR][1000 genomes]
rs61626196	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6443608	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6761999	0.86[ASN][1000 genomes]
rs6778195	0.85[ASN][1000 genomes]
rs6780631	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6794243	0.84[ASN][1000 genomes]
rs6794279	0.93[EUR][1000 genomes]
rs6797848	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7611854	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7638121	0.84[EUR][1000 genomes]
rs9815772	0.86[ASN][1000 genomes]
rs9816837	0.87[ASN][1000 genomes]
rs9832291	0.84[ASN][1000 genomes]
rs9841497	0.84[ASN][1000 genomes]
rs9862902	0.84[ASN][1000 genomes]
rs9871126	0.86[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	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv461026	chr3:178661814-178886609	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv592649	chr3:178661814-178886609	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178706400-178718600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr3:178706800-178712800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr3:178707000-178718800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr3:178708200-178712800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:178708400-178715000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:178708400-178715000	Weak transcription	Aorta	Aorta
7	chr3:178708400-178718600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:178708600-178726200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:178708800-178713000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:178708800-178737800	Weak transcription	Colon Smooth Muscle	Colon
11	chr3:178709000-178713200	Strong transcription	Primary T cells from cord blood	blood
12	chr3:178709200-178724400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:178709400-178713200	Strong transcription	HSMM	muscle
14	chr3:178709400-178714800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:178709400-178721600	Weak transcription	Primary B cells from cord blood	blood
16	chr3:178709600-178724800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:178710000-178715000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr3:178710200-178715000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:178710600-178712600	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr3:178711400-178717800	Weak transcription	GM12878-XiMat	blood
21	chr3:178711600-178713200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:178711800-178722600	Weak transcription	Gastric	stomach
23	chr3:178712400-178714400	Weak transcription	HSMMtube	muscle
24	chr3:178712400-178719200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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