Variant report

Variant	rs7817412
Chromosome Location	chr8:11567376-11567377
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11559801..11562734-chr8:11565950..11568340,2	K562	blood:

Variant related genes	Relation type
ENSG00000136574	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10088151	0.94[ASN][1000 genomes]
rs11777611	0.89[ASN][1000 genomes]
rs11781500	0.96[ASN][1000 genomes]
rs2409813	0.95[ASN][1000 genomes]
rs28473684	0.96[ASN][1000 genomes]
rs28530664	0.87[ASN][1000 genomes]
rs34888744	0.93[ASN][1000 genomes]
rs35813172	0.93[ASN][1000 genomes]
rs4269498	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4489290	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61277615	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62489319	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6990313	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73203483	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7837066	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv6079	chr8:11564157-11573046	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3415599	chr8:11565343-11567591	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11560400-11568400	Active TSS	Right Atrium	heart
2	chr8:11562800-11567400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:11563200-11568200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr8:11564200-11568000	Active TSS	Left Ventricle	heart
5	chr8:11564200-11568600	Active TSS	Pancreas	Pancrea
6	chr8:11565000-11568200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:11565400-11567400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:11565400-11567400	Transcr. at gene 5' and 3'	Ovary	ovary
9	chr8:11565400-11567800	Transcr. at gene 5' and 3'	Gastric	stomach
10	chr8:11565400-11568000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr8:11565400-11568200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr8:11565600-11568000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr8:11566000-11567600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr8:11566400-11568000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:11566400-11568800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
16	chr8:11566600-11567400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:11566600-11567400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr8:11566600-11567400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
19	chr8:11566600-11568000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:11566600-11568000	Active TSS	Right Ventricle	heart
21	chr8:11566800-11567600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr8:11566800-11567800	Bivalent/Poised TSS	Fetal Stomach	stomach
23	chr8:11567200-11567400	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
24	chr8:11567200-11567400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
25	chr8:11567200-11567600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
26	chr8:11567200-11567600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
27	chr8:11567200-11567600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
28	chr8:11567200-11567800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr8:11567200-11567800	Flanking Active TSS	Fetal Heart	heart
30	chr8:11567200-11567800	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
31	chr8:11567200-11567800	Genic enhancers	HepG2	liver
32	chr8:11567200-11568200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr8:11567200-11574400	Enhancers	Liver	Liver

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