Variant report

Variant	rs8648
Chromosome Location	chr12:65091031-65091032
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	MYC	chr12:65090891-65091091	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr12:65089925-65091085	K562	blood:	n/a	n/a
3	STAT3	chr12:65090847-65091054	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:65001714..65006897-chr12:65088342..65093997,11	MCF-7	breast:
2	chr12:65002182..65006670-chr12:65087134..65093452,10	MCF-7	breast:
3	chr12:65014921..65016651-chr12:65088874..65091449,2	MCF-7	breast:
4	chr12:65002305..65005095-chr12:65090588..65092916,2	K562	blood:

Variant related genes	Relation type
ENSG00000268028	TF binding region
ENSG00000153179	Chromatin interaction
ENSG00000207546	Chromatin interaction
ENSG00000256670	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12824259	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35005876	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61932664	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73323424	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	nsv524627	chr12:65082330-65091031	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65070000-65092400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:65075000-65108400	Weak transcription	NH-A	brain
3	chr12:65077000-65091800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:65077200-65091800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:65077200-65106800	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:65077400-65091800	Weak transcription	Brain Anterior Caudate	brain
7	chr12:65077400-65114800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:65077600-65091800	Weak transcription	Brain Substantia Nigra	brain
9	chr12:65078600-65092200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr12:65078800-65092400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
11	chr12:65079000-65092000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr12:65079200-65091600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
13	chr12:65079200-65092200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr12:65080000-65113600	Weak transcription	Colonic Mucosa	Colon
15	chr12:65081800-65100400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:65082400-65094400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:65084200-65091200	Genic enhancers	Primary T cells from cord blood	blood
18	chr12:65085600-65106200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:65086000-65100000	Weak transcription	Psoas Muscle	Psoas
20	chr12:65086000-65100200	Weak transcription	Right Atrium	heart
21	chr12:65086200-65094800	Weak transcription	NHDF-Ad	bronchial
22	chr12:65086400-65107800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:65087200-65108200	Weak transcription	Osteobl	bone
24	chr12:65088000-65092000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:65088200-65092000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:65088200-65100600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:65088200-65109600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:65088800-65100200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:65089000-65094600	Weak transcription	Small Intestine	intestine
30	chr12:65089000-65108400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:65089000-65109400	Weak transcription	Ovary	ovary
32	chr12:65089200-65092200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:65089400-65100600	Weak transcription	NHEK	skin
34	chr12:65089400-65100800	Weak transcription	HMEC	breast
35	chr12:65089400-65114600	Weak transcription	Esophagus	oesophagus
36	chr12:65089600-65091400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:65089600-65091800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:65089600-65091800	Weak transcription	Pancreas	Pancrea
39	chr12:65089600-65092200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:65089600-65092400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr12:65089600-65093600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:65089600-65093800	Weak transcription	Primary B cells from cord blood	blood
43	chr12:65089600-65094200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:65089600-65096600	Strong transcription	Fetal Muscle Trunk	muscle
45	chr12:65089600-65100000	Weak transcription	HSMMtube	muscle
46	chr12:65089600-65100200	Weak transcription	Left Ventricle	heart
47	chr12:65089600-65100800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:65089600-65103000	Weak transcription	Lung	lung
49	chr12:65089600-65107000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:65089600-65108200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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