Variant report

Variant	rs12811245
Chromosome Location	chr12:63183727-63183728
allele	C/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	STAT3	chr12:63183591-63183934	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:62995008..63000778-chr12:63178750..63184772,7	MCF-7	breast:

Variant related genes	Relation type
PPM1H	TF binding region
ENSG00000221949	Chromatin interaction
ENSG00000257354	Chromatin interaction
ENSG00000199179	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12818573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12830400	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34179782	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35214873	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36126385	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4763029	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4763031	1.00[CHB][hapmap]
rs4763032	1.00[CHB][hapmap]
rs4763036	1.00[CHB][hapmap]
rs7955839	1.00[CHB][hapmap]
rs7968796	1.00[CHB][hapmap]

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	nsv899160	chr12:63149213-63209623	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63175200-63193600	Weak transcription	Gastric	stomach
2	chr12:63175200-63206800	Weak transcription	Pancreas	Pancrea
3	chr12:63178000-63185400	Weak transcription	Fetal Brain Male	brain
4	chr12:63178200-63187000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:63178400-63186200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:63178400-63192400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:63178600-63186200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:63180000-63184200	Weak transcription	Small Intestine	intestine
9	chr12:63180400-63184400	Weak transcription	Primary T cells from cord blood	blood
10	chr12:63180400-63184600	Enhancers	HUVEC	blood vessel
11	chr12:63180400-63186000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:63180400-63186800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:63180400-63186800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:63180400-63187600	Weak transcription	Fetal Thymus	thymus
15	chr12:63180400-63192200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:63180400-63199000	Weak transcription	Aorta	Aorta
17	chr12:63180600-63183800	Weak transcription	Left Ventricle	heart
18	chr12:63180600-63185800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:63180600-63185800	Weak transcription	NHLF	lung
20	chr12:63180600-63187400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr12:63180600-63188400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:63180800-63186200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr12:63181000-63187000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr12:63181000-63187200	Weak transcription	Brain Anterior Caudate	brain
25	chr12:63181000-63187200	Weak transcription	Right Atrium	heart
26	chr12:63181200-63185800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:63181200-63187200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:63181200-63187600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:63181200-63197800	Weak transcription	Spleen	Spleen
30	chr12:63181200-63198200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr12:63181200-63200400	Weak transcription	Lung	lung
32	chr12:63181600-63186000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:63181600-63191000	Weak transcription	Fetal Intestine Large	intestine
34	chr12:63181600-63194600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr12:63181800-63183800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:63181800-63185800	Weak transcription	Fetal Muscle Leg	muscle
37	chr12:63181800-63185800	Weak transcription	NH-A	brain
38	chr12:63181800-63186200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:63181800-63187600	Weak transcription	Placenta	Placenta
40	chr12:63182000-63193800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr12:63182200-63185600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:63182200-63186200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr12:63182200-63186200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:63182400-63183800	Enhancers	A549	lung
45	chr12:63182400-63185600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:63182400-63185600	Weak transcription	Osteobl	bone
47	chr12:63182400-63185800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:63182400-63186000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:63182400-63186200	Weak transcription	Brain Hippocampus Middle	brain
50	chr12:63182400-63187400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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