Variant report

Variant	rs10111052
Chromosome Location	chr8:59478423-59478424
allele	G/T
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: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10085973	0.85[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]
rs10090425	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10090964	0.81[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10091952	0.81[EUR][1000 genomes]
rs10092359	0.88[EUR][1000 genomes]
rs10094910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10099153	0.83[CEU][hapmap];0.95[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]
rs10099240	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10099912	0.85[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]
rs10102709	0.86[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10104292	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10104568	0.82[JPT][hapmap]
rs10107530	0.94[EUR][1000 genomes]
rs10110111	0.83[EUR][1000 genomes]
rs10111180	0.88[CEU][hapmap];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	0.86[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10504256	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]
rs1050488	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs1050504	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs11774558	0.95[EUR][1000 genomes]
rs11776003	0.81[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11782455	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs11783174	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[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]
rs12543344	0.82[JPT][hapmap]
rs12674568	0.86[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];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	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12677290	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12679938	0.84[CEU][hapmap];0.89[EUR][1000 genomes]
rs12680104	0.83[EUR][1000 genomes]
rs12680996	0.86[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1427162	0.81[JPT][hapmap]
rs1582824	0.81[JPT][hapmap]
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	0.84[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17206746	0.81[EUR][1000 genomes]
rs17263989	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs17272151	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs1976162	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs1991359	0.81[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2130072	0.85[EUR][1000 genomes]
rs2279460	0.96[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2279462	0.96[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2634527	0.82[CHB][hapmap];0.90[JPT][hapmap];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	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs4282557	0.85[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]
rs4400366	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4400367	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4579515	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];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[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];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	0.86[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6984439	0.82[JPT][hapmap]
rs6986129	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6987187	0.83[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs6995115	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7009248	0.81[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7009374	0.81[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7011095	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];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	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7826122	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs7826603	0.87[EUR][1000 genomes]
rs7827910	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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	0.96[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];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[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9297998	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297999	0.84[CEU][hapmap];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:125 , 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	chr8:59467600-59479200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:59468000-59479000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr8:59468000-59479600	Weak transcription	HepG2	liver
7	chr8:59468000-59480000	Weak transcription	Brain Substantia Nigra	brain
8	chr8:59468200-59480000	Weak transcription	Fetal Kidney	kidney
9	chr8:59471600-59489200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:59472600-59478600	Weak transcription	K562	blood
11	chr8:59472800-59479200	Weak transcription	Small Intestine	intestine
12	chr8:59472800-59515800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:59473000-59486000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:59473000-59489400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:59473000-59493200	Weak transcription	Fetal Heart	heart
16	chr8:59473000-59493400	Weak transcription	Esophagus	oesophagus
17	chr8:59473000-59497400	Weak transcription	Stomach Mucosa	stomach
18	chr8:59473000-59506400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:59473200-59479000	Weak transcription	HSMMtube	muscle
20	chr8:59473200-59479400	Weak transcription	Thymus	Thymus
21	chr8:59473200-59479400	Weak transcription	Spleen	Spleen
22	chr8:59473200-59480200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr8:59473200-59481000	Weak transcription	Colonic Mucosa	Colon
24	chr8:59473200-59481200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr8:59473200-59481400	Weak transcription	Fetal Intestine Small	intestine
26	chr8:59473200-59493400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:59473200-59508600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr8:59473400-59479000	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:59473400-59480200	Weak transcription	Fetal Stomach	stomach
30	chr8:59473400-59492200	Weak transcription	Aorta	Aorta
31	chr8:59473400-59495400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:59473600-59481200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:59473800-59480800	Weak transcription	Brain Germinal Matrix	brain
34	chr8:59474000-59479000	Weak transcription	Primary T cells from cord blood	blood
35	chr8:59474000-59497000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:59474200-59480200	Weak transcription	GM12878-XiMat	blood
37	chr8:59475800-59480000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
38	chr8:59476000-59479200	Weak transcription	Brain Hippocampus Middle	brain
39	chr8:59476000-59480000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr8:59476600-59478800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr8:59476600-59479400	Weak transcription	Lung	lung
42	chr8:59476600-59480000	Weak transcription	Fetal Brain Male	brain
43	chr8:59476600-59481200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr8:59476600-59481400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:59476600-59505600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:59476800-59478800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr8:59476800-59479000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr8:59476800-59479000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:59476800-59479000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr8:59476800-59479200	Weak transcription	Stomach Smooth Muscle	stomach

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