Variant report

Variant	rs10094910
Chromosome Location	chr8:59481292-59481293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:59480896-59482302	K562	blood:	n/a	n/a
2	POLR2A	chr8:59481241-59481439	GM12878	blood:	n/a	n/a
3	EBF1	chr8:59481184-59481420	GM12878	blood:	n/a	chr8:59481275-59481286

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:59477541..59481590-chr8:59482411..59486258,4	K562	blood:

Variant related genes	Relation type
SDCBP	TF binding region
ENSG00000137575	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10085973	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10090425	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10090964	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10091952	0.81[EUR][1000 genomes]
rs10092359	0.88[EUR][1000 genomes]
rs10099153	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10099240	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10099912	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10102709	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10104292	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10107530	0.94[EUR][1000 genomes]
rs10110111	0.83[EUR][1000 genomes]
rs10111052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10111180	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10111506	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10113750	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10504256	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1050488	0.81[EUR][1000 genomes]
rs1050504	0.88[EUR][1000 genomes]
rs11774558	0.95[EUR][1000 genomes]
rs11776003	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11782455	0.94[EUR][1000 genomes]
rs11783174	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785141	0.95[EUR][1000 genomes]
rs12335008	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12674568	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12674724	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12676593	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12677290	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12679938	0.89[EUR][1000 genomes]
rs12680104	0.83[EUR][1000 genomes]
rs12680996	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16923562	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16923564	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16923588	0.89[EUR][1000 genomes]
rs16923594	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17206746	0.81[EUR][1000 genomes]
rs17263989	0.83[EUR][1000 genomes]
rs17272151	0.84[EUR][1000 genomes]
rs1976162	0.97[EUR][1000 genomes]
rs1991359	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2130072	0.85[EUR][1000 genomes]
rs2279460	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2279462	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2634527	0.81[ASN][1000 genomes]
rs28429491	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28650441	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28656336	0.89[EUR][1000 genomes]
rs28711402	0.90[EUR][1000 genomes]
rs28809811	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3739327	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808609	0.83[EUR][1000 genomes]
rs3816846	0.95[EUR][1000 genomes]
rs4282557	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4400366	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4400367	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4579515	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55774738	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56249776	0.95[EUR][1000 genomes]
rs59979442	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471729	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6471731	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6981601	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6986129	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6987187	0.82[ASN][1000 genomes]
rs6995115	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7009248	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7009374	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7011095	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7014398	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72647434	0.88[EUR][1000 genomes]
rs72647435	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72647437	0.90[EUR][1000 genomes]
rs72647443	0.89[EUR][1000 genomes]
rs7817515	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7825996	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7826122	0.87[EUR][1000 genomes]
rs7826603	0.87[EUR][1000 genomes]
rs7827910	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840932	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7843989	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7844231	0.88[EUR][1000 genomes]
rs9297995	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9297996	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297997	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9297998	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297999	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer 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
2	nsv890939	chr8:59471187-59544413	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59467200-59486000	Weak transcription	Brain Angular Gyrus	brain
2	chr8:59467400-59559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:59471600-59489200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:59472800-59515800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:59473000-59486000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:59473000-59489400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:59473000-59493200	Weak transcription	Fetal Heart	heart
8	chr8:59473000-59493400	Weak transcription	Esophagus	oesophagus
9	chr8:59473000-59497400	Weak transcription	Stomach Mucosa	stomach
10	chr8:59473000-59506400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:59473200-59481400	Weak transcription	Fetal Intestine Small	intestine
12	chr8:59473200-59493400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:59473200-59508600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:59473400-59492200	Weak transcription	Aorta	Aorta
15	chr8:59473400-59495400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:59474000-59497000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:59476600-59481400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:59476600-59505600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:59476800-59482800	Strong transcription	HSMM	muscle
20	chr8:59476800-59485600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr8:59476800-59489400	Weak transcription	Psoas Muscle	Psoas
22	chr8:59476800-59490800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr8:59476800-59495400	Weak transcription	Pancreas	Pancrea
24	chr8:59476800-59500600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:59477000-59508200	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr8:59477200-59489800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:59477200-59490600	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr8:59477200-59490600	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr8:59477200-59503000	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr8:59477200-59503400	Strong transcription	NHDF-Ad	bronchial
31	chr8:59477200-59506200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr8:59477400-59482000	Strong transcription	Primary hematopoietic stem cells	blood
33	chr8:59477400-59482600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:59477600-59482800	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr8:59477600-59493400	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr8:59477600-59496800	Strong transcription	Placenta	Placenta
37	chr8:59477600-59500600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:59477600-59503600	Strong transcription	Osteobl	bone
39	chr8:59477600-59514200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:59477800-59482000	Strong transcription	Hela-S3	cervix
41	chr8:59477800-59482800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:59477800-59508800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr8:59478000-59481400	Strong transcription	Colon Smooth Muscle	Colon
44	chr8:59478000-59481600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr8:59478000-59481600	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr8:59478000-59482000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:59478000-59482000	Strong transcription	Brain Anterior Caudate	brain
48	chr8:59478000-59482400	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr8:59478000-59482600	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr8:59478000-59482800	Strong transcription	Liver	Liver

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