Variant report

Variant	rs7952285
Chromosome Location	chr11:76902927-76902928
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:76902892..76903670-chr11:77268742..77269476,3	MCF-7	breast:
2	chr11:76902781..76903688-chr11:77081021..77082089,5	MCF-7	breast:
3	chr11:76839097..76839757-chr11:76902558..76903329,2	MCF-7	breast:
4	chr11:76756751..76757686-chr11:76902736..76903367,3	MCF-7	breast:
5	chr11:76902551..76903698-chr11:77268194..77269571,9	MCF-7	breast:
6	chr11:76837216..76837771-chr11:76902744..76903254,2	MCF-7	breast:
7	chr11:76901800..76904027-chr11:77298783..77300926,2	MCF-7	breast:
8	chr11:76902860..76903731-chr11:77235331..77236081,3	MCF-7	breast:
9	chr11:76902845..76903392-chr20:43245725..43246226,2	MCF-7	breast:
10	chr11:76835516..76838692-chr11:76899720..76903376,3	MCF-7	breast:
11	chr11:76837985..76839166-chr11:76902702..76903643,5	K562	blood:
12	chr11:76837868..76839145-chr11:76902463..76903746,12	MCF-7	breast:
13	chr11:76902666..76903427-chr16:710416..711340,2	MCF-7	breast:
14	chr11:76852088..76855016-chr11:76900952..76903015,2	K562	blood:
15	chr11:76902791..76903778-chr11:77258737..77260363,14	MCF-7	breast:
16	chr11:76902832..76903846-chr11:77329105..77330263,3	MCF-7	breast:
17	chr11:76901897..76903673-chr11:77346667..77349389,2	MCF-7	breast:
18	chr11:76902845..76903814-chr11:77330359..77331131,2	MCF-7	breast:
19	chr11:76901668..76903583-chr11:76913584..76915149,2	MCF-7	breast:
20	chr11:76901603..76903612-chr11:76907074..76909013,2	K562	blood:
21	chr11:76902890..76903607-chr6:126462830..126463392,2	MCF-7	breast:
22	chr11:76901170..76903314-chr11:77259087..77261522,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137474	Chromatin interaction
ENSG00000161996	Chromatin interaction
ENSG00000074201	Chromatin interaction
ENSG00000178301	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10466706	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10466707	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10793239	0.80[ASN][1000 genomes]
rs10899356	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10899357	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10899358	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10899359	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10899360	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1109162	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1109163	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1109977	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11237106	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11237109	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11237110	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11237111	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11237118	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11237119	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11237120	0.86[EUR][1000 genomes]
rs11237121	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12421897	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12577334	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12577724	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12792197	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12802853	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12806868	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1944034	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2076968	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2077198	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2155179	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2186659	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2276283	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2276285	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2276286	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2276287	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2276288	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2276294	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3740762	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3781689	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3781690	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3781691	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3781693	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3781694	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3781695	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944148	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4945155	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4945157	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4945158	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4945159	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4945160	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7117606	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7122023	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7481443	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7927472	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7932992	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7933106	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7942355	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7943136	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7947922	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs867505	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs867507	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs867508	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs948958	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs948963	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs948970	0.85[AMR][1000 genomes];0.91[EUR][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	esv1816632	chr11:76751285-76927014	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv1791882	chr11:76900813-76906057	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
3	nsv897936	chr11:76900813-76935002	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv534515	chr11:76900813-77035769	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76880400-76916600	Weak transcription	Right Atrium	heart
2	chr11:76890800-76918400	Weak transcription	Ovary	ovary
3	chr11:76893800-76903800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr11:76894400-76903800	Weak transcription	Brain Anterior Caudate	brain
5	chr11:76894400-76903800	Weak transcription	Gastric	stomach
6	chr11:76895600-76903800	Weak transcription	Brain Substantia Nigra	brain
7	chr11:76899600-76903800	Weak transcription	HepG2	liver
8	chr11:76899800-76928200	Strong transcription	Liver	Liver
9	chr11:76900200-76903800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:76900400-76903000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:76900600-76906000	Strong transcription	Placenta	Placenta
12	chr11:76901000-76906000	Weak transcription	Fetal Muscle Leg	muscle
13	chr11:76901800-76903000	Weak transcription	Esophagus	oesophagus
14	chr11:76902000-76905000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr11:76902400-76903000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:76902400-76903200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:76902400-76903200	Active TSS	A549	lung
18	chr11:76902400-76903200	Flanking Active TSS	HMEC	breast
19	chr11:76902400-76903600	Flanking Active TSS	NHEK	skin
20	chr11:76902600-76903200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr11:76902600-76903200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr11:76902600-76903200	Flanking Active TSS	Pancreas	Pancrea
23	chr11:76902600-76903400	Enhancers	Placenta Amnion	Placenta Amnion
24	chr11:76902600-76903600	Genic enhancers	Fetal Intestine Large	intestine
25	chr11:76902600-76903600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr11:76902600-76904000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:76902800-76903000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr11:76902800-76903000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:76902800-76903000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:76902800-76903000	Active TSS	Colonic Mucosa	Colon
31	chr11:76902800-76903000	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr11:76902800-76903000	Flanking Active TSS	Osteobl	bone
33	chr11:76902800-76903200	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr11:76902800-76903200	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr11:76902800-76903200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr11:76902800-76903200	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr11:76902800-76903200	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr11:76902800-76903200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:76902800-76903200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:76902800-76903200	Enhancers	Adipose Nuclei	Adipose
41	chr11:76902800-76903200	Active TSS	Fetal Kidney	kidney
42	chr11:76902800-76903200	Enhancers	Fetal Thymus	thymus
43	chr11:76902800-76903200	Active TSS	K562	blood
44	chr11:76902800-76903400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:76902800-76903400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:76902800-76903400	Bivalent Enhancer	Fetal Stomach	stomach
47	chr11:76902800-76903400	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr11:76902800-76903600	Enhancers	H1 Cell Line	embryonic stem cell
49	chr11:76902800-76903600	Genic enhancers	Fetal Intestine Small	intestine
50	chr11:76902800-76903600	Enhancers	Stomach Mucosa	stomach

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