Variant report

Variant	rs11172106
Chromosome Location	chr12:57512875-57512876
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57481437..57482964-chr12:57511233..57513007,2	K562	blood:
2	chr12:57508450..57511232-chr12:57511653..57513684,3	K562	blood:
3	chr12:57502941..57507087-chr12:57511781..57514626,3	K562	blood:
4	chr12:57503627..57505712-chr12:57512717..57514306,2	K562	blood:
5	chr12:57398143..57400588-chr12:57512007..57514365,2	MCF-7	breast:
6	chr12:57510770..57512947-chr12:57552852..57554770,2	K562	blood:

Variant related genes	Relation type
ENSG00000166886	Chromatin interaction
ENSG00000166860	Chromatin interaction
ENSG00000166881	Chromatin interaction
ENSG00000166888	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10467124	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876963	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172110	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172111	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12298170	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12309413	0.86[CEU][hapmap];0.83[CHB][hapmap];0.92[JPT][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12312693	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322902	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12368672	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs167769	0.82[CEU][hapmap]
rs3001425	0.85[ASN][1000 genomes]
rs3001426	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs324012	0.90[EUR][1000 genomes]
rs324013	0.82[CEU][hapmap]
rs324014	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4759275	0.85[CEU][hapmap];0.80[CHB][hapmap];0.92[JPT][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4759276	0.80[CHB][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer 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 miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv428590	chr12:57329214-57527358	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57505800-57521800	Weak transcription	Spleen	Spleen
2	chr12:57506200-57520000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:57506200-57520400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:57506600-57520400	Weak transcription	Stomach Mucosa	stomach
5	chr12:57506600-57520600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:57506600-57520600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr12:57506800-57518200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:57506800-57519200	Weak transcription	Liver	Liver
9	chr12:57511200-57513400	Weak transcription	K562	blood
10	chr12:57511800-57513600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr12:57511800-57513600	Enhancers	HMEC	breast
12	chr12:57511800-57513800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:57511800-57513800	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr12:57511800-57513800	Enhancers	NHEK	skin
15	chr12:57512000-57513600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:57512000-57513600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:57512000-57513800	Enhancers	Primary B cells from cord blood	blood
18	chr12:57512200-57513000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:57512200-57513400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:57512200-57513400	Enhancers	Primary B cells from peripheral blood	blood
21	chr12:57512200-57513400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:57512200-57513800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:57512200-57513800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr12:57512200-57513800	Enhancers	Hela-S3	cervix
25	chr12:57512200-57513800	Enhancers	HSMM	muscle
26	chr12:57512200-57513800	Enhancers	NHDF-Ad	bronchial
27	chr12:57512200-57513800	Enhancers	Osteobl	bone
28	chr12:57512400-57513000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:57512400-57513000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:57512400-57513000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:57512400-57513000	Enhancers	Esophagus	oesophagus
32	chr12:57512400-57513000	Enhancers	GM12878-XiMat	blood
33	chr12:57512400-57513200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:57512400-57513200	Enhancers	Duodenum Mucosa	Duodenum
35	chr12:57512400-57513200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr12:57512400-57513200	Enhancers	Left Ventricle	heart
37	chr12:57512400-57513400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:57512400-57513400	Enhancers	Adipose Nuclei	Adipose
39	chr12:57512400-57513600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:57512400-57513600	Enhancers	NHLF	lung
41	chr12:57512400-57513800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:57512600-57513000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:57512600-57513000	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr12:57512600-57513200	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr12:57512600-57513200	Enhancers	Colonic Mucosa	Colon
46	chr12:57512600-57513200	Enhancers	Fetal Lung	lung
47	chr12:57512600-57513200	Enhancers	Right Atrium	heart
48	chr12:57512600-57513200	Enhancers	NH-A	brain
49	chr12:57512600-57513400	Enhancers	HSMMtube	muscle
50	chr12:57512600-57513600	Enhancers	Primary hematopoietic stem cells	blood

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