Variant report

Variant	rs57311174
Chromosome Location	chr12:123001737-123001738
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	FOS	chr12:123001543-123001741	MCF10A-Er-Src	breast:	n/a	chr12:123001681-123001690
2	POLR2A	chr12:123000612-123002089	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:122999444-123002873	HepG2	liver:	n/a	n/a
4	POLR2A	chr12:123000853-123002018	GM12892	blood:	n/a	n/a
5	POLR2A	chr12:123000745-123002048	GM12892	blood:	n/a	n/a
6	POLR2A	chr12:123001715-123001841	ProgFib	skin:	n/a	n/a
7	POLR2A	chr12:123000718-123002084	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:123000799-123002027	GM12892	blood:	n/a	n/a
9	POLR2A	chr12:123001709-123002091	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr12:123000785-123001984	A549	lung:	n/a	n/a
11	POLR2A	chr12:123001667-123002008	GM12891	blood:	n/a	n/a
12	POLR2A	chr12:123000653-123001813	GM12878	blood:	n/a	n/a
13	POLR2A	chr12:123001671-123002039	K562	blood:	n/a	n/a
14	POLR2A	chr12:123001662-123001862	K562	blood:	n/a	n/a
15	POLR2A	chr12:123000744-123002077	SK-N-MC	brain:	n/a	n/a

Variant related genes	Relation type
RSRC2	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10744242	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10773230	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10846968	0.86[EUR][1000 genomes]
rs10847090	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11058362	0.88[EUR][1000 genomes]
rs11058398	0.88[EUR][1000 genomes]
rs11058562	0.99[ASN][1000 genomes]
rs11610303	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11615830	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12371048	0.88[EUR][1000 genomes]
rs12825762	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12828165	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1532578	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2133557	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4356269	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4758657	0.88[EUR][1000 genomes]
rs4758658	0.88[EUR][1000 genomes]
rs4758660	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4758692	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58600355	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61956119	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61956121	0.83[ASN][1000 genomes]
rs6416295	0.87[EUR][1000 genomes]
rs6489014	0.87[EUR][1000 genomes]
rs6489051	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6489056	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132830	0.84[EUR][1000 genomes]
rs7134381	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136564	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7296680	0.88[EUR][1000 genomes]
rs7297866	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298839	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7303688	0.87[EUR][1000 genomes]
rs7307867	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311573	0.88[EUR][1000 genomes]
rs7486949	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7955513	0.88[EUR][1000 genomes]
rs7967928	0.93[EUR][1000 genomes];0.94[ASN][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	nsv899570	chr12:122985057-123089209	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1041677	chr12:122991478-123114125	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	64 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	chr12:122986000-123001800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:122986200-123007600	Weak transcription	Right Atrium	heart
3	chr12:122986400-123003200	Strong transcription	Fetal Stomach	stomach
4	chr12:122986400-123007800	Strong transcription	Placenta	Placenta
5	chr12:122986800-123001800	Strong transcription	Osteobl	bone
6	chr12:122986800-123002000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:122986800-123006600	Strong transcription	Brain Germinal Matrix	brain
8	chr12:122986800-123006800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:122986800-123007000	Strong transcription	Fetal Muscle Leg	muscle
10	chr12:122986800-123009400	Strong transcription	Fetal Muscle Trunk	muscle
11	chr12:122987000-123007800	Strong transcription	Fetal Thymus	thymus
12	chr12:122987200-123003200	Strong transcription	Fetal Intestine Small	intestine
13	chr12:122987400-123003000	Strong transcription	Lung	lung
14	chr12:122987400-123006800	Strong transcription	Duodenum Mucosa	Duodenum
15	chr12:122987400-123007000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:122987400-123007200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:122987400-123007400	Strong transcription	Thymus	Thymus
18	chr12:122987400-123007600	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr12:122987400-123007800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:122987400-123007800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:122987600-123001800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:122987600-123001800	Strong transcription	NH-A	brain
23	chr12:122987600-123002200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:122987600-123002600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:122987600-123003600	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:122987600-123004000	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr12:122987600-123004600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:122987600-123006000	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr12:122987600-123006400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:122987600-123006400	Strong transcription	Liver	Liver
31	chr12:122987600-123006400	Strong transcription	Brain Hippocampus Middle	brain
32	chr12:122987600-123006600	Strong transcription	Primary T cells from cord blood	blood
33	chr12:122987600-123006800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:122987600-123007000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:122987600-123007000	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:122987600-123007000	Strong transcription	Fetal Intestine Large	intestine
37	chr12:122987600-123007000	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr12:122987600-123007600	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr12:122987600-123007600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:122987600-123008000	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr12:122987800-123001800	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr12:122987800-123001800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr12:122987800-123001800	Strong transcription	HSMM	muscle
44	chr12:122987800-123001800	Strong transcription	HSMMtube	muscle
45	chr12:122987800-123002600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:122987800-123002600	Strong transcription	Dnd41	blood
47	chr12:122987800-123002600	Strong transcription	NHDF-Ad	bronchial
48	chr12:122987800-123003200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:122987800-123003400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr12:122987800-123003400	Strong transcription	Spleen	Spleen

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