Variant report

Variant	rs7126717
Chromosome Location	chr11:86340058-86340059
allele	C/T
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	chr11:86332972..86336293-chr11:86338009..86340844,3	MCF-7	breast:
3	chr11:86336644..86340114-chr11:86340164..86342874,3	K562	blood:
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: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10501623	1.00[CEU][hapmap]
rs11821546	0.84[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17211409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56672587	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60024218	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60777296	0.97[ASN][1000 genomes]
rs7115713	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7116278	1.00[CEU][hapmap];0.92[CHB][hapmap];0.81[MKK][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes]
rs7116895	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7117234	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7119775	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs7950878	0.82[CEU][hapmap]

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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