Variant report

Variant	rs11064694
Chromosome Location	chr12:119621181-119621182
allele	A/G
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	MAFK	chr12:119620899-119621251	IMR90	lung:	n/a	n/a
2	MAFF	chr12:119621016-119621207	HepG2	liver:	n/a	n/a
3	RCOR1	chr12:119620474-119621400	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:119618981..119622944-chr12:119623767..119626992,5	MCF-7	breast:
2	chr12:119616453..119622468-chr12:119623323..119627109,7	MCF-7	breast:

Variant related genes	Relation type
HSPB8	TF binding region
ENSG00000256609	TF binding region
ENSG00000152137	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11064683	1.00[CEU][hapmap]
rs11064685	1.00[CEU][hapmap];0.88[CHD][hapmap];0.83[JPT][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes]
rs11064695	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064699	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064701	0.93[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.84[MKK][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11064704	0.85[CEU][hapmap];0.93[CHB][hapmap];0.91[GIH][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12227588	0.87[EUR][1000 genomes]
rs12811848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12812680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34109560	0.83[EUR][1000 genomes]
rs34168259	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34658242	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34689026	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35911573	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36005387	0.81[EUR][1000 genomes]
rs3782919	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66886955	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67681082	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68062239	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs68067444	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303637	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs7304005	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][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]
rs73213443	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73213444	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7975529	1.00[CEU][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9634173	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv899550	chr12:119581131-119654315	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119616400-119622200	Active TSS	Right Atrium	heart
2	chr12:119616400-119623000	Active TSS	Colon Smooth Muscle	Colon
3	chr12:119616600-119622400	Active TSS	Aorta	Aorta
4	chr12:119616600-119622600	Active TSS	Right Ventricle	heart
5	chr12:119617000-119622600	Active TSS	Brain Anterior Caudate	brain
6	chr12:119617400-119629000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:119617600-119621800	Active TSS	Brain Hippocampus Middle	brain
8	chr12:119618400-119621200	Active TSS	Esophagus	oesophagus
9	chr12:119618400-119624000	Weak transcription	Spleen	Spleen
10	chr12:119618400-119626400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:119618800-119622200	Active TSS	Fetal Muscle Trunk	muscle
12	chr12:119618800-119625800	Weak transcription	Gastric	stomach
13	chr12:119618800-119631000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:119618800-119639600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:119619000-119626400	Weak transcription	Osteobl	bone
16	chr12:119619200-119621200	Enhancers	NHDF-Ad	bronchial
17	chr12:119619200-119631600	Weak transcription	Pancreas	Pancrea
18	chr12:119619200-119639000	Weak transcription	Colonic Mucosa	Colon
19	chr12:119619400-119623400	Weak transcription	Fetal Stomach	stomach
20	chr12:119619600-119621800	Transcr. at gene 5' and 3'	Placenta	Placenta
21	chr12:119619600-119625600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:119619800-119624600	Weak transcription	NHLF	lung
23	chr12:119620000-119621600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:119620000-119621800	Weak transcription	NH-A	brain
25	chr12:119620000-119622800	Enhancers	Fetal Heart	heart
26	chr12:119620000-119624000	Weak transcription	Brain Angular Gyrus	brain
27	chr12:119620000-119624400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:119620000-119626400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:119620000-119634000	Weak transcription	HUVEC	blood vessel
30	chr12:119620000-119636200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr12:119620000-119639200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:119620000-119639600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:119620200-119624600	Weak transcription	Brain Substantia Nigra	brain
34	chr12:119620600-119621200	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
35	chr12:119620600-119621200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr12:119620600-119621400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:119620600-119621400	Enhancers	Fetal Lung	lung
38	chr12:119620600-119621600	Enhancers	Ovary	ovary
39	chr12:119620600-119622400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:119620800-119621200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:119620800-119621200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr12:119620800-119621800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:119620800-119622200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:119620800-119622200	Active TSS	Left Ventricle	heart
45	chr12:119620800-119622400	Enhancers	Muscle Satellite Cultured Cells	--
46	chr12:119620800-119622800	Enhancers	Placenta Amnion	Placenta Amnion
47	chr12:119620800-119623800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr12:119621000-119621200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:119621000-119621200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:119621000-119621200	Enhancers	Fetal Thymus	thymus

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