Variant report

Variant	rs949350
Chromosome Location	chr11:86340166-86340167
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86335345..86338144-chr11:86338587..86341664,3	K562	blood:
2	chr11:86336644..86340114-chr11:86340164..86342874,3	K562	blood:
3	chr11:86332972..86336293-chr11:86338009..86340844,3	MCF-7	breast:
4	chr11:86336049..86341479-chr11:86341893..86346875,7	MCF-7	breast:
5	chr11:86335701..86342089-chr11:86509158..86515056,8	MCF-7	breast:
6	chr11:86339668..86341867-chr11:86523137..86524970,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150687	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10219173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10219305	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10219319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10219378	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10400291	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10792860	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10792861	0.93[ASN][1000 genomes]
rs10792862	0.93[ASN][1000 genomes]
rs10792863	0.93[ASN][1000 genomes]
rs10792864	0.92[ASN][1000 genomes]
rs10792866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898505	0.88[ASN][1000 genomes]
rs10898506	0.81[ASN][1000 genomes]
rs10898507	0.88[ASN][1000 genomes]
rs10898510	0.95[ASN][1000 genomes]
rs10898511	0.84[ASN][1000 genomes]
rs10898512	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10898514	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10898515	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10898516	0.94[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs11234704	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11234717	0.97[ASN][1000 genomes]
rs11535845	0.93[ASN][1000 genomes]
rs12289252	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12290684	0.99[ASN][1000 genomes]
rs1540081	0.97[ASN][1000 genomes]
rs1540082	0.88[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs17211577	0.94[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs1894012	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1938924	0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1938925	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1938926	0.97[ASN][1000 genomes]
rs1938927	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1938928	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1938938	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2032356	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2051433	0.88[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2155035	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2840368	0.94[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs4144865	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4944601	0.86[ASN][1000 genomes]
rs4944604	0.98[ASN][1000 genomes]
rs4944610	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4944613	0.93[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs722157	0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs722158	0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7940587	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7940590	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7940772	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7940781	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7940788	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9634021	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1055071	chr11:86301240-86465465	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86321800-86343200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:86330800-86341600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:86331000-86343600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:86331000-86346200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr11:86332800-86343200	Weak transcription	A549	lung
6	chr11:86333000-86342400	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr11:86333200-86349800	Weak transcription	Esophagus	oesophagus
8	chr11:86334000-86342200	Enhancers	Ovary	ovary
9	chr11:86335000-86341000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:86335000-86343200	Weak transcription	NH-A	brain
11	chr11:86335000-86343600	Weak transcription	Lung	lung
12	chr11:86335200-86341800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:86335200-86342800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:86335600-86345200	Enhancers	NHDF-Ad	bronchial
15	chr11:86335800-86341000	Enhancers	Adipose Nuclei	Adipose
16	chr11:86336000-86343200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:86336000-86343400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr11:86336000-86348000	Weak transcription	Fetal Intestine Small	intestine
19	chr11:86336600-86342800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:86337000-86344600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr11:86337600-86343200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:86337600-86343200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:86337600-86343200	Weak transcription	NHEK	skin
24	chr11:86338000-86342400	Enhancers	Colon Smooth Muscle	Colon
25	chr11:86338200-86343600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:86338400-86342200	Enhancers	Aorta	Aorta
27	chr11:86338600-86341000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:86338600-86341000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr11:86338600-86342200	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr11:86338600-86342200	Enhancers	Left Ventricle	heart
31	chr11:86338600-86342200	Enhancers	Psoas Muscle	Psoas
32	chr11:86338600-86342200	Enhancers	Right Atrium	heart
33	chr11:86338600-86342600	Enhancers	Rectal Smooth Muscle	rectum
34	chr11:86338600-86342600	Enhancers	NHLF	lung
35	chr11:86338600-86342600	Enhancers	Osteobl	bone
36	chr11:86338800-86341000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:86338800-86341000	Enhancers	HSMMtube	muscle
38	chr11:86338800-86341600	Enhancers	Brain Anterior Caudate	brain
39	chr11:86338800-86342400	Enhancers	Fetal Muscle Leg	muscle
40	chr11:86338800-86342400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr11:86339000-86342000	Enhancers	Fetal Heart	heart
42	chr11:86339200-86340800	Weak transcription	Brain Angular Gyrus	brain
43	chr11:86339200-86341200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr11:86339200-86342200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:86339200-86349200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr11:86339400-86340200	Enhancers	HSMM	muscle
47	chr11:86339400-86340800	Weak transcription	Right Ventricle	heart
48	chr11:86339400-86341200	Enhancers	Fetal Stomach	stomach
49	chr11:86339400-86341800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr11:86339600-86340200	Enhancers	Brain Cingulate Gyrus	brain

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