Variant report

Variant	rs6817766
Chromosome Location	chr4:90045776-90045777
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:90031135..90034267-chr4:90044647..90046752,4	K562	blood:
2	chr4:90036870..90039187-chr4:90043124..90046686,3	MCF-7	breast:
3	chr4:90043393..90046238-chr4:90047056..90051826,4	K562	blood:

Variant related genes	Relation type
ENSG00000138640	Chromatin interaction
ENSG00000180346	Chromatin interaction
ENSG00000271359	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10433948	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10433949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10470936	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs11097216	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11725475	0.87[ASN][1000 genomes]
rs11725938	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11726708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11730277	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12505696	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap]
rs12507131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12508524	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap]
rs12509305	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12647781	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1398942	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap]
rs1533292	1.00[ASW][hapmap];0.89[CHD][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];0.84[MKK][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1533293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3733448	0.88[CEU][hapmap];0.81[CHD][hapmap];0.90[GIH][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4367140	1.00[ASW][hapmap];0.89[CHD][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap];0.86[YRI][hapmap];0.98[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4627822	0.89[CHD][hapmap];0.88[JPT][hapmap];0.81[MEX][hapmap];0.81[AMR][1000 genomes]
rs56943497	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58377799	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59684168	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59799062	0.83[ASN][1000 genomes]
rs60770708	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61315828	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66475381	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66500341	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66869930	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67287708	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67412466	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67706608	0.84[ASN][1000 genomes]
rs67850063	0.80[ASN][1000 genomes]
rs6838424	0.94[JPT][hapmap]
rs72613157	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72877639	0.84[ASN][1000 genomes]
rs9790655	0.85[ASN][1000 genomes]
rs9994655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1007025	chr4:89837734-90098046	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537176	chr4:89837734-90098046	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1002448	chr4:89933385-90128133	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90033400-90048200	Weak transcription	Ovary	ovary
2	chr4:90033400-90049200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:90033600-90049200	Weak transcription	Gastric	stomach
4	chr4:90033600-90052200	Weak transcription	Aorta	Aorta
5	chr4:90034800-90049200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:90037000-90046200	Weak transcription	Primary T cells from cord blood	blood
7	chr4:90042200-90047600	Enhancers	Fetal Intestine Large	intestine
8	chr4:90042600-90049600	Enhancers	Fetal Intestine Small	intestine
9	chr4:90043200-90045800	Enhancers	HMEC	breast
10	chr4:90043400-90050200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:90043600-90046000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr4:90043600-90046000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:90043800-90045800	Enhancers	Liver	Liver
14	chr4:90043800-90046000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:90044000-90045800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:90044000-90046000	Enhancers	Duodenum Mucosa	Duodenum
17	chr4:90044400-90046000	Enhancers	Placenta	Placenta
18	chr4:90044600-90045800	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr4:90044800-90046800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:90044800-90056000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:90045000-90047000	Weak transcription	Brain Substantia Nigra	brain
22	chr4:90045200-90045800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:90045200-90045800	Enhancers	HepG2	liver
24	chr4:90045200-90047200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr4:90045400-90045800	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr4:90045600-90045800	Bivalent Enhancer	Small Intestine	intestine
27	chr4:90045600-90045800	Flanking Active TSS	A549	lung
28	chr4:90045600-90046000	Enhancers	Esophagus	oesophagus
29	chr4:90045600-90046000	Enhancers	Pancreas	Pancrea

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