Variant report

Variant	rs7946059
Chromosome Location	chr11:75849410-75849411
allele	G/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	PAX5	chr11:75849240-75849728	GM12878	blood:	n/a	chr11:75849677-75849704
2	POLR2A	chr11:75849300-75849461	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:75849041-75849479	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75849232..75850781-chr11:75850823..75853731,2	K562	blood:

Variant related genes	Relation type
ENSG00000255421	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11820084	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11822333	0.87[EUR][1000 genomes]
rs11825311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11828568	0.82[GIH][hapmap];1.00[TSI][hapmap]
rs1521529	0.87[EUR][1000 genomes]
rs1521530	0.87[EUR][1000 genomes]
rs17134532	0.87[EUR][1000 genomes]
rs17134568	0.87[EUR][1000 genomes]
rs17134571	0.87[EUR][1000 genomes]
rs17134573	0.87[EUR][1000 genomes]
rs17134575	0.87[EUR][1000 genomes]
rs17134576	0.87[EUR][1000 genomes]
rs17134579	0.87[EUR][1000 genomes]
rs17134594	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2099856	0.82[GIH][hapmap];1.00[TSI][hapmap]
rs2139934	0.87[EUR][1000 genomes]
rs35688819	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56272311	0.87[EUR][1000 genomes]
rs56803972	0.87[EUR][1000 genomes]
rs57092805	0.87[EUR][1000 genomes]
rs57211393	0.87[EUR][1000 genomes]
rs57307347	0.87[EUR][1000 genomes]
rs59789333	0.80[EUR][1000 genomes]
rs6592624	0.87[EUR][1000 genomes]
rs6592625	0.87[EUR][1000 genomes]
rs6592626	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs6592627	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs7103027	0.87[EUR][1000 genomes]
rs7103473	0.87[EUR][1000 genomes]
rs7104995	0.87[EUR][1000 genomes]
rs7107640	0.87[EUR][1000 genomes]
rs7108353	0.87[EUR][1000 genomes]
rs7109579	0.87[EUR][1000 genomes]
rs7114160	0.82[GIH][hapmap];1.00[TSI][hapmap]
rs7114434	0.87[EUR][1000 genomes]
rs7115657	1.00[CHD][hapmap];0.82[GIH][hapmap]
rs7121876	0.87[EUR][1000 genomes]
rs7127326	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs7129228	0.87[EUR][1000 genomes]
rs73496192	0.87[EUR][1000 genomes]
rs73498213	0.87[EUR][1000 genomes]
rs73498295	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7928611	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7928973	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7929964	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930216	0.87[EUR][1000 genomes]
rs7933454	1.00[CEU][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7935047	0.87[EUR][1000 genomes]
rs7937889	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs7941207	0.82[GIH][hapmap];1.00[TSI][hapmap]
rs7942870	0.87[EUR][1000 genomes]
rs7946566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7946584	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7952260	0.87[EUR][1000 genomes];0.87[ASN][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	nsv394	chr11:75820547-75865777	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv1049039	chr11:75827548-76023665	Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers 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	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75822000-75852200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr11:75825600-75851800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:75825800-75852800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr11:75826000-75862800	Weak transcription	Hela-S3	cervix
5	chr11:75827200-75851800	Weak transcription	Gastric	stomach
6	chr11:75827400-75851800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:75827400-75851800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:75827600-75851800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:75827600-75851800	Weak transcription	Dnd41	blood
10	chr11:75827800-75851400	Weak transcription	HepG2	liver
11	chr11:75831400-75851800	Weak transcription	Fetal Thymus	thymus
12	chr11:75831800-75851600	Weak transcription	Spleen	Spleen
13	chr11:75832000-75861200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:75832400-75852000	Weak transcription	Fetal Intestine Large	intestine
15	chr11:75832600-75857600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr11:75832800-75851200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:75832800-75851400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr11:75832800-75851800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:75832800-75859400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:75833000-75851600	Weak transcription	Lung	lung
21	chr11:75833000-75854400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:75833000-75862800	Weak transcription	K562	blood
23	chr11:75833400-75855000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr11:75833400-75872800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:75834400-75862800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:75834600-75851400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:75834800-75851600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:75834800-75851800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:75836200-75851800	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr11:75836600-75851400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:75836600-75851800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:75837600-75849600	Strong transcription	Primary B cells from cord blood	blood
33	chr11:75838400-75852200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr11:75839800-75852000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:75839800-75858000	Weak transcription	Pancreas	Pancrea
36	chr11:75841200-75862800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:75842600-75851800	Weak transcription	Aorta	Aorta
38	chr11:75842600-75851800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr11:75842800-75851800	Weak transcription	Placenta	Placenta
40	chr11:75843200-75851400	Weak transcription	Right Ventricle	heart
41	chr11:75843200-75851600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:75843200-75851800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr11:75843200-75859400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:75843400-75851400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:75843400-75851600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:75843400-75851800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr11:75843400-75853800	Weak transcription	Brain Hippocampus Middle	brain
48	chr11:75843400-75858000	Weak transcription	Right Atrium	heart
49	chr11:75843600-75851600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr11:75843600-75851800	Weak transcription	Brain Cingulate Gyrus	brain

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