Variant report

Variant	rs10083067
Chromosome Location	chr12:123752263-123752264
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123460655..123463100-chr12:123749736..123752602,2	MCF-7	breast:
2	chr12:123717082..123719698-chr12:123751267..123753093,2	K562	blood:
3	chr12:123736848..123739836-chr12:123749677..123753155,4	K562	blood:
4	chr12:123749757..123758492-chr12:123844437..123851411,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130921	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000111325	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000139697	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10773007	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap]
rs10773014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10846468	0.82[CEU][hapmap]
rs10846476	0.81[ASN][1000 genomes]
rs10846477	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs10846479	0.81[ASN][1000 genomes]
rs10846490	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10846492	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10846493	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10846494	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10846509	1.00[CEU][hapmap];0.87[GIH][hapmap]
rs10846510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10846514	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap]
rs10846518	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap]
rs11057214	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11057222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057240	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11057250	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11057266	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap]
rs11057273	0.81[CEU][hapmap]
rs11531106	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12371973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1662	0.82[CHB][hapmap]
rs28475177	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap]
rs28573826	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs28655516	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap]
rs28713448	0.82[CHB][hapmap]
rs61953388	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6488868	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv1803368	chr12:123640853-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	esv1830566	chr12:123640853-123822503	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	esv1836043	chr12:123709409-123822503	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123734600-123753200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:123735600-123752400	Strong transcription	Thymus	Thymus
3	chr12:123736400-123752600	Strong transcription	NHLF	lung
4	chr12:123737000-123753000	Strong transcription	Fetal Intestine Small	intestine
5	chr12:123738000-123752600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:123738000-123752800	Strong transcription	Placenta Amnion	Placenta Amnion
7	chr12:123739200-123752600	Weak transcription	Psoas Muscle	Psoas
8	chr12:123739200-123753000	Weak transcription	Right Atrium	heart
9	chr12:123739200-123753200	Weak transcription	Fetal Heart	heart
10	chr12:123739200-123754200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:123739800-123752400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:123739800-123753200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:123740000-123753600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:123741000-123753600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:123742000-123752600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:123742400-123753400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr12:123742400-123754600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:123742400-123754600	Weak transcription	Small Intestine	intestine
19	chr12:123743000-123754200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:123743400-123752400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr12:123743400-123754000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr12:123743600-123753600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:123743800-123752600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr12:123743800-123752600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:123744000-123752400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr12:123744000-123753800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:123744000-123753800	Weak transcription	K562	blood
28	chr12:123744600-123752600	Weak transcription	Primary B cells from cord blood	blood
29	chr12:123745000-123753000	Weak transcription	Stomach Mucosa	stomach
30	chr12:123745400-123754000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:123746000-123752400	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:123746200-123753200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:123746600-123752600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:123746600-123753000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:123746600-123754000	Weak transcription	Fetal Kidney	kidney
36	chr12:123746800-123752600	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:123746800-123753000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
38	chr12:123747000-123753400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr12:123747000-123754400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr12:123748200-123752800	Weak transcription	Primary T cells from cord blood	blood
41	chr12:123748400-123752400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:123748400-123752600	Weak transcription	NH-A	brain
43	chr12:123748400-123753000	Weak transcription	Colon Smooth Muscle	Colon
44	chr12:123748400-123753200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr12:123748400-123753400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:123749200-123753800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr12:123749400-123754600	Enhancers	Fetal Brain Male	brain
48	chr12:123749800-123752800	Strong transcription	HepG2	liver
49	chr12:123749800-123753000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr12:123750400-123752800	Genic enhancers	Pancreas	Pancrea

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