Variant report

Variant	rs11175485
Chromosome Location	chr12:65032524-65032525
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:65021335..65024097-chr12:65032475..65034279,2	MCF-7	breast:
2	chr12:65020670..65023700-chr12:65029685..65032659,3	MCF-7	breast:
3	chr12:65032387..65033941-chr12:65038755..65041564,2	K562	blood:

Variant related genes	Relation type
ENSG00000225195	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10506537	0.87[LWK][hapmap]
rs11175486	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11175488	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11175489	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11175490	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11175492	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11175495	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11175498	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11175499	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11175500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11175501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11175502	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11175514	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs12366918	0.85[AFR][1000 genomes]
rs12367950	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12368712	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs12368756	0.82[EUR][1000 genomes]
rs12368761	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs1795616	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2620722	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56093753	0.86[EUR][1000 genomes]
rs7135985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296498	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307915	0.86[EUR][1000 genomes]
rs73321721	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321733	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv832443	chr12:64878856-65057265	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers 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 miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking 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 miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv438218	chr12:65017844-65037483	Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65018600-65035000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:65019800-65047400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:65021400-65043400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:65021800-65037000	Weak transcription	Adipose Nuclei	Adipose
5	chr12:65021800-65038000	Weak transcription	Ovary	ovary
6	chr12:65022400-65039600	Weak transcription	Osteobl	bone
7	chr12:65025000-65059600	Weak transcription	Thymus	Thymus
8	chr12:65025200-65044000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:65026400-65043200	Weak transcription	Fetal Stomach	stomach
10	chr12:65027400-65032600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:65027400-65041800	Weak transcription	Spleen	Spleen
12	chr12:65027600-65032600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:65027800-65047600	Weak transcription	Psoas Muscle	Psoas
14	chr12:65028000-65032600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:65028000-65036600	Weak transcription	Lung	lung
16	chr12:65028200-65047400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:65028400-65037000	Weak transcription	HUVEC	blood vessel
18	chr12:65028400-65038600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:65028400-65047400	Weak transcription	NHDF-Ad	bronchial
20	chr12:65028400-65047400	Weak transcription	NHLF	lung
21	chr12:65028600-65056400	Weak transcription	NHEK	skin
22	chr12:65029000-65041800	Weak transcription	Left Ventricle	heart
23	chr12:65029200-65032800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:65029200-65039800	Enhancers	Primary T cells fromperipheralblood	blood
25	chr12:65029200-65041000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr12:65029200-65041600	Weak transcription	Fetal Muscle Leg	muscle
27	chr12:65029400-65036800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:65029400-65038000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:65029600-65032600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:65029600-65036600	Weak transcription	Pancreas	Pancrea
31	chr12:65029600-65036800	Weak transcription	GM12878-XiMat	blood
32	chr12:65029600-65037600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr12:65029600-65038200	Weak transcription	Right Atrium	heart
34	chr12:65029600-65042600	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr12:65029600-65044000	Weak transcription	Fetal Lung	lung
36	chr12:65030800-65032600	Enhancers	Fetal Heart	heart
37	chr12:65030800-65033800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr12:65030800-65034600	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr12:65031000-65047600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr12:65031200-65032600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr12:65031200-65040000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:65031200-65043400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:65031200-65043600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr12:65031200-65043800	Weak transcription	Fetal Intestine Small	intestine
45	chr12:65031400-65032600	Weak transcription	HepG2	liver
46	chr12:65031400-65034400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:65031400-65042600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:65031400-65043400	Weak transcription	Small Intestine	intestine
49	chr12:65031600-65032800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr12:65031600-65033400	Weak transcription	Fetal Intestine Large	intestine

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