Variant report

Variant	rs4756122
Chromosome Location	chr11:34292886-34292887
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34268801..34271707-chr11:34290725..34293055,2	K562	blood:
2	chr11:34264193..34265705-chr11:34292865..34295828,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11032589	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032599	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12361605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12364526	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16925360	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2611107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2755164	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2755168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2755169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2957489	1.00[CHD][hapmap]
rs4755364	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4755365	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756111	1.00[CHD][hapmap]
rs4756123	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756124	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756125	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56709002	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs749322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7933213	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7933607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757435	chr11:34220504-34370236	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2759816	chr11:34220504-34370236	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv818809	chr11:34239730-34354076	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv2753052	chr11:34247462-34358300	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv897206	chr11:34253421-34337564	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34285400-34296400	Weak transcription	Gastric	stomach
2	chr11:34285400-34296400	Weak transcription	Right Ventricle	heart
3	chr11:34285600-34293200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr11:34285600-34296000	Weak transcription	Fetal Heart	heart
5	chr11:34285600-34296200	Weak transcription	Stomach Mucosa	stomach
6	chr11:34285600-34299800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:34286200-34293400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:34286200-34295800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:34286800-34296200	Weak transcription	Psoas Muscle	Psoas
10	chr11:34288800-34295800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:34289000-34294800	Weak transcription	Right Atrium	heart
12	chr11:34289000-34295800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:34289000-34295800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:34289000-34295800	Weak transcription	HMEC	breast
15	chr11:34289000-34295800	Weak transcription	Osteobl	bone
16	chr11:34289000-34296200	Weak transcription	Left Ventricle	heart
17	chr11:34289000-34296400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:34289000-34296400	Weak transcription	Colon Smooth Muscle	Colon
19	chr11:34289000-34302600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr11:34289200-34295000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr11:34289200-34295000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr11:34289200-34295800	Weak transcription	Brain Substantia Nigra	brain
23	chr11:34289200-34296200	Weak transcription	Fetal Stomach	stomach
24	chr11:34289200-34296200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:34289200-34296400	Weak transcription	Fetal Brain Female	brain
26	chr11:34289400-34295200	Weak transcription	Hela-S3	cervix
27	chr11:34289400-34295800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr11:34289400-34295800	Weak transcription	Brain Germinal Matrix	brain
29	chr11:34289400-34296000	Weak transcription	Fetal Brain Male	brain
30	chr11:34290200-34293200	Weak transcription	Brain Hippocampus Middle	brain
31	chr11:34290400-34294800	Weak transcription	Fetal Muscle Trunk	muscle
32	chr11:34291000-34293400	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr11:34291200-34295800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:34291200-34295800	Weak transcription	NH-A	brain
35	chr11:34291400-34293000	Enhancers	Placenta	Placenta
36	chr11:34291400-34295800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:34291400-34296400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr11:34291600-34293600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:34291600-34294800	Weak transcription	A549	lung
40	chr11:34291600-34295800	Weak transcription	HSMM	muscle
41	chr11:34291600-34295800	Weak transcription	HSMMtube	muscle
42	chr11:34291600-34296400	Weak transcription	Fetal Thymus	thymus
43	chr11:34291800-34293000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:34291800-34294800	Weak transcription	Fetal Lung	lung
45	chr11:34291800-34295800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:34291800-34296400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:34292200-34293000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr11:34292200-34293000	Enhancers	H9 Cell Line	embryonic stem cell
49	chr11:34292400-34293200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr11:34292600-34293000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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