Variant report

Variant	rs11175514
Chromosome Location	chr12:65079388-65079389
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:64845485..64847183-chr12:65078288..65081085,2	MCF-7	breast:
2	chr12:64798242..64800483-chr12:65078323..65079941,2	K562	blood:

Variant related genes	Relation type
ENSG00000184575	Chromatin interaction
ENSG00000183735	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11175485	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]
rs11175486	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]
rs11175488	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11175489	0.86[EUR][1000 genomes]
rs11175490	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs11175492	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]
rs11175495	0.86[EUR][1000 genomes]
rs11175498	0.86[EUR][1000 genomes]
rs11175499	0.86[EUR][1000 genomes]
rs11175500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs11175501	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11175502	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12367950	0.86[EUR][1000 genomes]
rs12368712	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12368756	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12368761	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1795616	0.80[EUR][1000 genomes]
rs2620722	0.86[AMR][1000 genomes]
rs56093753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7135985	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7296498	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]
rs7307915	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321721	0.86[EUR][1000 genomes]
rs73321733	0.84[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	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
2	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
3	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
4	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
5	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
6	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
7	nsv899209	chr12:65068686-65184236	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv899210	chr12:65076498-65184236	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers 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 target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65068400-65087200	Weak transcription	Liver	Liver
2	chr12:65068600-65079400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:65070000-65085200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:65070000-65092400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:65070800-65079600	Enhancers	Colon Smooth Muscle	Colon
6	chr12:65072200-65081600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:65074000-65081600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:65074200-65081400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:65074400-65081200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:65074400-65081200	Weak transcription	HSMM	muscle
11	chr12:65075000-65081200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:65075000-65081800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:65075000-65108400	Weak transcription	NH-A	brain
14	chr12:65075200-65082000	Weak transcription	NHEK	skin
15	chr12:65075200-65082200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:65075200-65087400	Weak transcription	HMEC	breast
17	chr12:65075400-65080000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:65075400-65088600	Weak transcription	Esophagus	oesophagus
19	chr12:65075600-65081600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr12:65075800-65081600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:65075800-65081600	Weak transcription	Right Atrium	heart
22	chr12:65076800-65080800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:65077000-65079400	Weak transcription	HUVEC	blood vessel
24	chr12:65077000-65081200	Weak transcription	HSMMtube	muscle
25	chr12:65077000-65081200	Weak transcription	NHLF	lung
26	chr12:65077000-65081400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:65077000-65085000	Weak transcription	Hela-S3	cervix
28	chr12:65077000-65086800	Weak transcription	Osteobl	bone
29	chr12:65077000-65091800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:65077200-65079600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr12:65077200-65081200	Weak transcription	NHDF-Ad	bronchial
32	chr12:65077200-65081400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:65077200-65081400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr12:65077200-65082600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr12:65077200-65085000	Weak transcription	Fetal Kidney	kidney
36	chr12:65077200-65088200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr12:65077200-65088600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:65077200-65091800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:65077200-65106800	Weak transcription	Brain Hippocampus Middle	brain
40	chr12:65077400-65079400	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr12:65077400-65079400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:65077400-65079600	Weak transcription	Aorta	Aorta
43	chr12:65077400-65081400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr12:65077400-65081400	Weak transcription	K562	blood
45	chr12:65077400-65081600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:65077400-65081600	Weak transcription	Psoas Muscle	Psoas
47	chr12:65077400-65081800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:65077400-65085200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr12:65077400-65088600	Weak transcription	Ovary	ovary
50	chr12:65077400-65091800	Weak transcription	Brain Anterior Caudate	brain

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