Variant report

Variant	rs10504256
Chromosome Location	chr8:59479767-59479768
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	chr8:59477541..59481590-chr8:59482411..59486258,4	K562	blood:
2	chr8:59464567..59467546-chr8:59474944..59480287,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137575	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10085973	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10090425	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10090964	0.84[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs10092359	0.81[EUR][1000 genomes]
rs10094910	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10099153	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10099240	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10099912	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10102709	0.83[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10104292	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10104568	0.82[JPT][hapmap]
rs10107530	0.87[EUR][1000 genomes]
rs10111052	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10111180	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10111506	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10113323	0.80[CEU][hapmap]
rs10113750	0.83[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1050488	0.87[CEU][hapmap];0.89[EUR][1000 genomes]
rs1050504	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs11774558	0.88[EUR][1000 genomes]
rs11776003	0.84[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11782455	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11783174	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785141	0.88[EUR][1000 genomes]
rs12335008	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12543344	0.82[JPT][hapmap]
rs12674568	0.83[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12676593	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12677290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12679938	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs12680996	0.83[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1427162	0.81[JPT][hapmap]
rs1582824	0.81[JPT][hapmap]
rs16923562	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16923564	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16923588	0.96[EUR][1000 genomes]
rs16923594	0.88[CEU][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17263989	0.84[CEU][hapmap]
rs17272151	0.87[CEU][hapmap]
rs1976162	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1991359	0.84[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2279460	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2279462	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2634527	0.82[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs28429491	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28650441	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28656336	0.83[EUR][1000 genomes]
rs28711402	0.83[EUR][1000 genomes]
rs28809811	0.85[AMR][1000 genomes]
rs3739327	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808609	0.83[CEU][hapmap]
rs3816846	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs4282557	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4400366	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4400367	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4579515	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55774738	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56249776	0.88[EUR][1000 genomes]
rs59979442	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471729	0.84[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6471731	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6981601	0.83[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6984439	0.82[JPT][hapmap]
rs6986129	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6987187	0.83[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs6991020	0.84[EUR][1000 genomes]
rs6995115	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7009248	0.84[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7009374	0.84[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7011095	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7014398	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72647434	0.82[EUR][1000 genomes]
rs72647435	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72647437	0.83[EUR][1000 genomes]
rs72647443	0.96[EUR][1000 genomes]
rs7817515	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7825996	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7826122	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7826603	0.94[EUR][1000 genomes]
rs7827910	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840932	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7843989	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7844231	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.96[EUR][1000 genomes]
rs9297995	0.91[ASN][1000 genomes]
rs9297996	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297997	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9297998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297999	0.87[CEU][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv3385550	chr8:59479410-59479844	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59466800-59479800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:59467200-59486000	Weak transcription	Brain Angular Gyrus	brain
3	chr8:59467400-59559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:59468000-59480000	Weak transcription	Brain Substantia Nigra	brain
5	chr8:59468200-59480000	Weak transcription	Fetal Kidney	kidney
6	chr8:59471600-59489200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:59472800-59515800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:59473000-59486000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:59473000-59489400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr8:59473000-59493200	Weak transcription	Fetal Heart	heart
11	chr8:59473000-59493400	Weak transcription	Esophagus	oesophagus
12	chr8:59473000-59497400	Weak transcription	Stomach Mucosa	stomach
13	chr8:59473000-59506400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:59473200-59480200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr8:59473200-59481000	Weak transcription	Colonic Mucosa	Colon
16	chr8:59473200-59481200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:59473200-59481400	Weak transcription	Fetal Intestine Small	intestine
18	chr8:59473200-59493400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:59473200-59508600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr8:59473400-59480200	Weak transcription	Fetal Stomach	stomach
21	chr8:59473400-59492200	Weak transcription	Aorta	Aorta
22	chr8:59473400-59495400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr8:59473600-59481200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:59473800-59480800	Weak transcription	Brain Germinal Matrix	brain
25	chr8:59474000-59497000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:59474200-59480200	Weak transcription	GM12878-XiMat	blood
27	chr8:59475800-59480000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
28	chr8:59476000-59480000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr8:59476600-59480000	Weak transcription	Fetal Brain Male	brain
30	chr8:59476600-59481200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:59476600-59481400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:59476600-59505600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:59476800-59480000	Weak transcription	Right Ventricle	heart
34	chr8:59476800-59480000	Weak transcription	NHLF	lung
35	chr8:59476800-59480800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:59476800-59480800	Weak transcription	Gastric	stomach
37	chr8:59476800-59482800	Strong transcription	HSMM	muscle
38	chr8:59476800-59485600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr8:59476800-59489400	Weak transcription	Psoas Muscle	Psoas
40	chr8:59476800-59490800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr8:59476800-59495400	Weak transcription	Pancreas	Pancrea
42	chr8:59476800-59500600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:59477000-59508200	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr8:59477200-59480400	Strong transcription	Primary B cells from cord blood	blood
45	chr8:59477200-59489800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:59477200-59490600	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr8:59477200-59490600	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr8:59477200-59503000	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr8:59477200-59503400	Strong transcription	NHDF-Ad	bronchial
50	chr8:59477200-59506200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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