Variant report

Variant	rs60893253
Chromosome Location	chr8:11594116-11594117
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11594028..11596357-chr8:11603341..11605570,2	K562	blood:
2	chr8:11587952..11589513-chr8:11592423..11595406,2	K562	blood:
3	chr8:11593617..11594422-chr8:11604399..11605223,2	K562	blood:
4	chr8:11583078..11587577-chr8:11589128..11594677,6	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11994925	1.00[ASN][1000 genomes]
rs3088244	1.00[ASN][1000 genomes]
rs56936550	1.00[ASN][1000 genomes]
rs58258057	1.00[ASN][1000 genomes]
rs59035560	1.00[ASN][1000 genomes]
rs59799643	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59946151	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60197293	1.00[ASN][1000 genomes]
rs7011491	1.00[ASN][1000 genomes]
rs73203490	1.00[ASN][1000 genomes]
rs73203493	1.00[ASN][1000 genomes]
rs73537869	1.00[ASN][1000 genomes]
rs73547720	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	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
4	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
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11591200-11594200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:11591800-11597400	Enhancers	Fetal Heart	heart
3	chr8:11593400-11594200	Active TSS	A549	lung
4	chr8:11593400-11594600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr8:11593400-11595200	Enhancers	Fetal Intestine Large	intestine
6	chr8:11593400-11597800	Enhancers	Placenta	Placenta
7	chr8:11593400-11601400	Genic enhancers	Fetal Intestine Small	intestine
8	chr8:11593600-11594200	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr8:11593600-11594200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr8:11593600-11594200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:11593600-11594200	Genic enhancers	Right Atrium	heart
12	chr8:11593600-11594200	Active TSS	Hela-S3	cervix
13	chr8:11593600-11594400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr8:11593600-11594400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:11593600-11595000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:11593600-11595200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:11593600-11595200	Enhancers	Small Intestine	intestine
18	chr8:11593600-11596200	Enhancers	Ovary	ovary
19	chr8:11593600-11598000	Enhancers	Left Ventricle	heart
20	chr8:11593600-11599200	Enhancers	Liver	Liver
21	chr8:11593800-11594200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:11593800-11594200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
23	chr8:11593800-11594200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:11593800-11594200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr8:11593800-11594200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr8:11593800-11594200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr8:11593800-11594200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr8:11593800-11594200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:11593800-11594200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:11593800-11594200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
31	chr8:11593800-11594200	Bivalent/Poised TSS	Fetal Brain Female	brain
32	chr8:11593800-11594400	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr8:11593800-11594400	Flanking Active TSS	K562	blood
34	chr8:11593800-11595200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:11593800-11595200	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr8:11593800-11595200	Enhancers	Pancreas	Pancrea
37	chr8:11593800-11597200	Enhancers	Right Ventricle	heart
38	chr8:11594000-11594200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
39	chr8:11594000-11594200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
40	chr8:11594000-11594200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr8:11594000-11594200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr8:11594000-11594200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr8:11594000-11594200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
44	chr8:11594000-11594200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr8:11594000-11594400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr8:11594000-11594400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
47	chr8:11594000-11594400	Enhancers	Primary hematopoietic stem cells	blood
48	chr8:11594000-11594400	Enhancers	Fetal Kidney	kidney
49	chr8:11594000-11594400	Enhancers	Rectal Smooth Muscle	rectum
50	chr8:11594000-11594600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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