Variant report

Variant	rs61762307
Chromosome Location	chr8:11184552-11184553
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11170423..11173089-chr8:11183633..11185692,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2280802	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3808503	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3808508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3808510	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4141831	1.00[AMR][1000 genomes]
rs56119337	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59109107	1.00[AMR][1000 genomes]
rs61005672	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61128034	1.00[AMR][1000 genomes]
rs61762308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	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
4	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1033312	chr8:11126800-11252170	Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Active TSS 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	14 gene(s)	inside rSNPs	diseases
8	esv1821756	chr8:11169178-11217587	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv890354	chr8:11176147-11266131	Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv971285	chr8:11181086-11184863	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11167400-11185200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:11167800-11184600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:11170600-11185400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:11171600-11191400	Weak transcription	Psoas Muscle	Psoas
5	chr8:11175400-11185000	Weak transcription	Small Intestine	intestine
6	chr8:11176000-11185600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:11176000-11187800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:11176000-11189000	Weak transcription	Gastric	stomach
9	chr8:11176600-11187000	Weak transcription	Colonic Mucosa	Colon
10	chr8:11177800-11185000	Weak transcription	NH-A	brain
11	chr8:11178200-11186000	Weak transcription	Fetal Intestine Small	intestine
12	chr8:11178200-11186400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:11178600-11186800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:11178800-11186200	Weak transcription	Fetal Heart	heart
15	chr8:11179000-11185400	Weak transcription	Fetal Lung	lung
16	chr8:11179400-11187600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:11179600-11186200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:11179800-11186400	Weak transcription	Brain Germinal Matrix	brain
19	chr8:11179800-11188000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr8:11180400-11185000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr8:11180400-11185000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:11180600-11184600	Weak transcription	Brain Substantia Nigra	brain
23	chr8:11180600-11185200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:11180600-11185400	Weak transcription	Brain Angular Gyrus	brain
25	chr8:11180600-11185800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr8:11180600-11185800	Weak transcription	Fetal Muscle Leg	muscle
27	chr8:11180600-11186000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:11180600-11187000	Weak transcription	Lung	lung
29	chr8:11180600-11190200	Weak transcription	A549	lung
30	chr8:11180800-11185000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr8:11180800-11185000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:11180800-11185400	Weak transcription	Colon Smooth Muscle	Colon
33	chr8:11181000-11185200	Weak transcription	Placenta	Placenta
34	chr8:11181600-11186600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr8:11182000-11185000	Weak transcription	GM12878-XiMat	blood
36	chr8:11182200-11186600	Weak transcription	Fetal Brain Female	brain
37	chr8:11182400-11188800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:11182400-11193600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:11182600-11184600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr8:11182600-11184600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:11182600-11184600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr8:11182600-11185200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:11182600-11186800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr8:11182600-11188800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr8:11182800-11186600	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr8:11182800-11187600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:11183000-11184600	Weak transcription	Left Ventricle	heart
48	chr8:11183000-11184800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr8:11183000-11184800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr8:11183000-11185000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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