Variant report

Variant	rs7123010
Chromosome Location	chr11:86341186-86341187
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86165887..86167902-chr11:86340779..86343642,2	MCF-7	breast:
2	chr11:86335345..86338144-chr11:86338587..86341664,3	K562	blood:
3	chr11:86336644..86340114-chr11:86340164..86342874,3	K562	blood:
4	chr11:86340979..86344434-chr11:86510091..86513314,6	MCF-7	breast:
5	chr11:86336049..86341479-chr11:86341893..86346875,7	MCF-7	breast:
6	chr11:86335701..86342089-chr11:86509158..86515056,8	MCF-7	breast:
7	chr11:86339668..86341867-chr11:86523137..86524970,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10898517	0.94[ASN][1000 genomes]
rs10898518	0.94[ASN][1000 genomes]
rs11234716	0.81[ASN][1000 genomes]
rs11501849	0.83[ASN][1000 genomes]
rs11530863	0.87[ASN][1000 genomes]
rs11530882	0.92[ASN][1000 genomes]
rs11560984	0.92[ASN][1000 genomes]
rs12098937	0.87[ASN][1000 genomes]
rs12282010	0.88[ASW][hapmap];0.85[GIH][hapmap];0.84[LWK][hapmap]
rs17757676	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2155033	0.92[ASN][1000 genomes]
rs4943950	0.91[ASN][1000 genomes]
rs4943952	0.89[ASN][1000 genomes]
rs4944620	0.90[ASN][1000 genomes]
rs4944622	0.89[ASN][1000 genomes]
rs61703751	0.87[ASN][1000 genomes]
rs670736	0.91[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs7105863	0.82[GIH][hapmap]
rs7120052	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.91[MKK][hapmap];0.99[ASN][1000 genomes]
rs7935437	0.94[ASN][1000 genomes]
rs7938344	0.94[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:59 , 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	chr11:86335000-86343200	Weak transcription	NH-A	brain
10	chr11:86335000-86343600	Weak transcription	Lung	lung
11	chr11:86335200-86341800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:86335200-86342800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:86335600-86345200	Enhancers	NHDF-Ad	bronchial
14	chr11:86336000-86343200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:86336000-86343400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr11:86336000-86348000	Weak transcription	Fetal Intestine Small	intestine
17	chr11:86336600-86342800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:86337000-86344600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr11:86337600-86343200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:86337600-86343200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:86337600-86343200	Weak transcription	NHEK	skin
22	chr11:86338000-86342400	Enhancers	Colon Smooth Muscle	Colon
23	chr11:86338200-86343600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:86338400-86342200	Enhancers	Aorta	Aorta
25	chr11:86338600-86342200	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr11:86338600-86342200	Enhancers	Left Ventricle	heart
27	chr11:86338600-86342200	Enhancers	Psoas Muscle	Psoas
28	chr11:86338600-86342200	Enhancers	Right Atrium	heart
29	chr11:86338600-86342600	Enhancers	Rectal Smooth Muscle	rectum
30	chr11:86338600-86342600	Enhancers	NHLF	lung
31	chr11:86338600-86342600	Enhancers	Osteobl	bone
32	chr11:86338800-86341600	Enhancers	Brain Anterior Caudate	brain
33	chr11:86338800-86342400	Enhancers	Fetal Muscle Leg	muscle
34	chr11:86338800-86342400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr11:86339000-86342000	Enhancers	Fetal Heart	heart
36	chr11:86339200-86341200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr11:86339200-86342200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:86339200-86349200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr11:86339400-86341200	Enhancers	Fetal Stomach	stomach
40	chr11:86339400-86341800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr11:86339800-86341800	Weak transcription	Brain Hippocampus Middle	brain
42	chr11:86340000-86342000	Enhancers	Pancreas	Pancrea
43	chr11:86340000-86357200	Weak transcription	Fetal Brain Female	brain
44	chr11:86340200-86341200	Weak transcription	Fetal Lung	lung
45	chr11:86340200-86341400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr11:86340200-86341800	Enhancers	Stomach Smooth Muscle	stomach
47	chr11:86340800-86342200	Enhancers	Brain Angular Gyrus	brain
48	chr11:86340800-86342200	Enhancers	Right Ventricle	heart
49	chr11:86340800-86343200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:86340800-86343200	Weak transcription	HSMM	muscle

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