Variant report

Variant	rs7115605
Chromosome Location	chr11:73084433-73084434
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73076489..73078676-chr11:73084006..73085731,2	K562	blood:
2	chr11:73077441..73084740-chr11:73085851..73089070,9	MCF-7	breast:
3	chr11:73078824..73081761-chr11:73082100..73086091,3	MCF-7	breast:
4	chr11:73068661..73071007-chr11:73084004..73086103,3	MCF-7	breast:
5	chr11:73074976..73078822-chr11:73079717..73084977,8	MCF-7	breast:
6	chr11:73071635..73074523-chr11:73081652..73084521,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054967	Chromatin interaction
ENSG00000110237	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10898917	0.96[ASN][1000 genomes]
rs11235729	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11820037	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11820929	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11821094	0.96[ASN][1000 genomes]
rs11823923	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11824050	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11824614	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11827650	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275766	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282282	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293998	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12294659	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894076	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2027760	0.96[ASN][1000 genomes]
rs2027761	0.92[ASN][1000 genomes]
rs2027763	0.96[ASN][1000 genomes]
rs2298807	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3741149	0.96[ASN][1000 genomes]
rs55771351	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56363880	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs56397594	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56801796	0.88[EUR][1000 genomes]
rs57592318	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57893472	0.96[ASN][1000 genomes]
rs58364325	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60700454	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61037777	0.96[ASN][1000 genomes]
rs61131329	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61705659	0.92[ASN][1000 genomes]
rs6592519	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592520	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592521	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102787	0.96[ASN][1000 genomes]
rs7105681	0.96[ASN][1000 genomes]
rs7105705	0.96[ASN][1000 genomes]
rs7107905	0.96[ASN][1000 genomes]
rs7122560	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7125978	0.96[ASN][1000 genomes]
rs7131383	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs725103	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7342205	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930880	0.96[ASN][1000 genomes]
rs7933754	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7936102	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7944099	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949364	0.96[ASN][1000 genomes]
rs876480	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs947837	1.00[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	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv825993	chr11:73029209-73091929	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv897911	chr11:73044351-73108276	Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73059200-73087400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:73062600-73087400	Weak transcription	Liver	Liver
3	chr11:73072400-73087000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:73073200-73087000	Weak transcription	HMEC	breast
5	chr11:73073800-73087000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:73074000-73086600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:73074200-73086600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr11:73075200-73086800	Weak transcription	Brain Substantia Nigra	brain
9	chr11:73076600-73086400	Weak transcription	Hela-S3	cervix
10	chr11:73077200-73085000	Weak transcription	Brain Angular Gyrus	brain
11	chr11:73077200-73085000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:73077200-73086600	Weak transcription	A549	lung
13	chr11:73077200-73086800	Weak transcription	Pancreas	Pancrea
14	chr11:73077200-73087000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr11:73077200-73087000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:73077200-73087000	Weak transcription	Esophagus	oesophagus
17	chr11:73077200-73087000	Weak transcription	Fetal Kidney	kidney
18	chr11:73077400-73085400	Weak transcription	Brain Hippocampus Middle	brain
19	chr11:73077600-73086600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:73077600-73086800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:73077600-73086800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:73077600-73086800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr11:73077600-73087000	Weak transcription	Fetal Brain Male	brain
24	chr11:73077600-73087000	Weak transcription	NH-A	brain
25	chr11:73077800-73086600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:73077800-73087000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:73078400-73086600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:73079000-73086800	Weak transcription	Fetal Lung	lung
29	chr11:73079000-73087000	Weak transcription	Left Ventricle	heart
30	chr11:73079000-73087000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr11:73079200-73086800	Weak transcription	Colon Smooth Muscle	Colon
32	chr11:73079400-73084800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:73079400-73086600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr11:73079400-73087000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr11:73079600-73086600	Weak transcription	Primary T cells from cord blood	blood
36	chr11:73079800-73086800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:73079800-73087000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:73080000-73087000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:73080000-73087400	Weak transcription	Ovary	ovary
40	chr11:73080200-73085000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:73080400-73085400	Weak transcription	Brain Anterior Caudate	brain
42	chr11:73080400-73086800	Weak transcription	NHDF-Ad	bronchial
43	chr11:73080400-73087400	Weak transcription	Aorta	Aorta
44	chr11:73080600-73087400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:73080800-73086600	Weak transcription	Gastric	stomach
46	chr11:73080800-73087000	Weak transcription	HSMM	muscle
47	chr11:73080800-73087000	Weak transcription	HSMMtube	muscle
48	chr11:73081000-73085000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr11:73081000-73086600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:73081000-73086600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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