Variant report

Variant	rs2894634
Chromosome Location	chr7:111722814-111722815
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:111719879..111722087-chr7:111722721..111725922,3	MCF-7	breast:
2	chr7:111722754..111725358-chr7:111846243..111848256,2	MCF-7	breast:
3	chr7:111719751..111721639-chr7:111721753..111724570,2	K562	blood:

Variant related genes	Relation type
ENSG00000128512	Chromatin interaction
ENSG00000198839	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1012804	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1012806	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10225837	0.94[ASN][1000 genomes]
rs10236078	0.92[ASN][1000 genomes]
rs10256513	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10261464	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10262170	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10266032	0.96[ASN][1000 genomes]
rs10281256	0.96[ASN][1000 genomes]
rs10487338	0.94[ASN][1000 genomes]
rs11971933	0.91[ASN][1000 genomes]
rs11973245	0.85[ASN][1000 genomes]
rs11977671	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12665946	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12666013	0.91[ASN][1000 genomes]
rs12668460	0.97[ASN][1000 genomes]
rs12668526	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1593871	0.94[ASN][1000 genomes]
rs17565212	0.80[EUR][1000 genomes]
rs2106912	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28562311	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730509	0.89[ASN][1000 genomes]
rs58092763	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6944979	0.92[ASN][1000 genomes]
rs6948142	0.96[ASN][1000 genomes]
rs6953244	0.96[ASN][1000 genomes]
rs6958405	0.92[ASN][1000 genomes]
rs6958532	0.81[ASN][1000 genomes]
rs6959338	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6962255	0.81[ASN][1000 genomes]
rs6969874	0.81[EUR][1000 genomes]
rs72603556	0.87[ASN][1000 genomes]
rs72603557	0.92[ASN][1000 genomes]
rs73210930	0.80[EUR][1000 genomes]
rs769082	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs769083	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs769084	0.87[ASN][1000 genomes]
rs7791324	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7796169	0.83[ASN][1000 genomes]
rs7800386	0.96[ASN][1000 genomes]
rs7802825	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7802845	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7808571	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9770487	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608196	chr7:111073710-111794368	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv533924	chr7:111529515-111784369	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv1023261	chr7:111593889-111780337	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv1016663	chr7:111622107-111813223	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv1034249	chr7:111656902-111748774	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv539089	chr7:111656902-111748774	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv889054	chr7:111666943-111739842	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv1844097	chr7:111686153-111723488	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111713000-111723800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr7:111713200-111724000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr7:111713200-111742400	Weak transcription	Right Ventricle	heart
4	chr7:111715200-111726600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:111717800-111723800	Weak transcription	Brain Angular Gyrus	brain
6	chr7:111719800-111727800	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:111720600-111753200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:111720800-111724400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:111721000-111724000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:111721000-111724000	Weak transcription	Aorta	Aorta
11	chr7:111721000-111724000	Weak transcription	HepG2	liver
12	chr7:111721000-111724600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:111721400-111724000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:111721400-111724000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:111721400-111724200	Weak transcription	HMEC	breast
16	chr7:111721400-111728800	Weak transcription	Fetal Kidney	kidney
17	chr7:111721400-111737800	Weak transcription	NHEK	skin
18	chr7:111721400-111743600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:111721600-111723000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr7:111721600-111723800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:111721600-111723800	Weak transcription	Brain Hippocampus Middle	brain
22	chr7:111721600-111724000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:111721600-111724000	Weak transcription	Fetal Lung	lung
24	chr7:111721600-111724200	Weak transcription	NH-A	brain
25	chr7:111721600-111732600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr7:111721600-111736800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:111721800-111723800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr7:111721800-111724000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:111721800-111724000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:111722000-111723800	Weak transcription	Osteobl	bone
31	chr7:111722000-111724000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr7:111722000-111729800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr7:111722200-111723000	Enhancers	Liver	Liver
34	chr7:111722200-111723800	Weak transcription	Brain Substantia Nigra	brain
35	chr7:111722200-111723800	Weak transcription	Dnd41	blood
36	chr7:111722200-111724000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr7:111722200-111724000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr7:111722200-111724000	Weak transcription	Fetal Muscle Leg	muscle
39	chr7:111722200-111724000	Weak transcription	NHLF	lung
40	chr7:111722200-111724600	Weak transcription	Right Atrium	heart
41	chr7:111722200-111724800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr7:111722200-111734800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:111722200-111736800	Weak transcription	Left Ventricle	heart
44	chr7:111722200-111736800	Weak transcription	Lung	lung
45	chr7:111722600-111723600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:111722600-111723800	Weak transcription	Adipose Nuclei	Adipose
47	chr7:111722600-111723800	Weak transcription	Psoas Muscle	Psoas
48	chr7:111722600-111724000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:111722600-111724200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr7:111722600-111724400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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