Variant report

Variant	rs7133939
Chromosome Location	chr12:57676255-57676256
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:57675939-57676364	A549	lung:	n/a	chr12:57676052-57676063

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57673763..57676749-chr12:57823251..57825200,4	MCF-7	breast:
2	chr12:57675498..57678307-chr12:57822743..57825602,2	MCF-7	breast:

Variant related genes	Relation type
R3HDM2	TF binding region
ENSG00000258001	Chromatin interaction
ENSG00000179912	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10747777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10747778	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10783818	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10783819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10783820	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10783823	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10876976	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs10876978	0.80[AMR][1000 genomes]
rs11172156	0.96[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11172160	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11172165	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11172169	0.89[CEU][hapmap];0.88[CHB][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs11172170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11172190	0.93[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap]
rs11609986	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs12296766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12310220	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12579911	1.00[CEU][hapmap]
rs12812140	0.96[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs1798710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2063778	0.96[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap]
rs2280139	0.81[JPT][hapmap]
rs35032945	0.83[EUR][1000 genomes]
rs3923885	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4075325	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4760192	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4760193	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4760228	0.82[AMR][1000 genomes]
rs4760236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs4760308	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4760348	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4760356	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4760357	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs481196	1.00[CEU][hapmap]
rs491750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs512223	0.82[AMR][1000 genomes]
rs533975	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs537482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs543410	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs560048	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs568793	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs575153	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6581131	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6581134	0.95[CHB][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6581135	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6581136	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6581139	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7132367	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7133366	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7135142	0.96[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7298418	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7307059	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7309659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7313824	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7314266	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7358684	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7398058	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7486863	0.96[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7975649	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7977908	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57654800-57705400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:57656600-57682800	Weak transcription	Fetal Brain Male	brain
3	chr12:57662800-57706000	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr12:57667600-57685600	Weak transcription	Fetal Heart	heart
5	chr12:57667600-57687200	Weak transcription	Psoas Muscle	Psoas
6	chr12:57669600-57678600	Strong transcription	Fetal Stomach	stomach
7	chr12:57670200-57681400	Strong transcription	Stomach Smooth Muscle	stomach
8	chr12:57670400-57707000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr12:57670600-57693000	Strong transcription	Fetal Muscle Leg	muscle
10	chr12:57670600-57694400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:57670600-57698600	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr12:57670600-57700000	Strong transcription	Fetal Muscle Trunk	muscle
13	chr12:57671000-57676800	Strong transcription	Colon Smooth Muscle	Colon
14	chr12:57671000-57678200	Strong transcription	Brain Hippocampus Middle	brain
15	chr12:57671000-57678400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:57671000-57678600	Strong transcription	Brain Inferior Temporal Lobe	brain
17	chr12:57671000-57681600	Strong transcription	Brain Germinal Matrix	brain
18	chr12:57671000-57694400	Strong transcription	Adipose Nuclei	Adipose
19	chr12:57671000-57700000	Strong transcription	Liver	Liver
20	chr12:57671200-57690400	Strong transcription	Fetal Brain Female	brain
21	chr12:57671400-57678600	Strong transcription	Brain Anterior Caudate	brain
22	chr12:57671600-57677200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:57671600-57680400	Strong transcription	Left Ventricle	heart
24	chr12:57671600-57692200	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr12:57672200-57678000	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:57672200-57688400	Weak transcription	Small Intestine	intestine
27	chr12:57672800-57677200	Weak transcription	Spleen	Spleen
28	chr12:57672800-57688400	Weak transcription	Colonic Mucosa	Colon
29	chr12:57673400-57678200	Strong transcription	Fetal Lung	lung
30	chr12:57673400-57678400	Strong transcription	Brain Substantia Nigra	brain
31	chr12:57674200-57682800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:57674400-57684600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:57674400-57697000	Strong transcription	Placenta	Placenta
34	chr12:57674600-57676400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:57674600-57676600	Weak transcription	Pancreas	Pancrea
36	chr12:57674600-57676800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr12:57674600-57677600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr12:57674600-57677600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:57674600-57678200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:57674600-57678200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:57674600-57678400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:57674600-57678400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:57674600-57678600	Strong transcription	Fetal Intestine Small	intestine
44	chr12:57674600-57682600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr12:57674600-57683200	Weak transcription	Right Ventricle	heart
46	chr12:57674600-57685000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:57674600-57686800	Weak transcription	Esophagus	oesophagus
48	chr12:57674600-57693200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr12:57674600-57693600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr12:57674600-57694200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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