Variant report

Variant	rs1129167
Chromosome Location	chr12:122812503-122812504
allele	C/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	chr12:122812220-122812928	HUVEC	blood vessel:	n/a	chr12:122812732-122812742 chr12:122812733-122812741 chr12:122812733-122812742 chr12:122812731-122812742 chr12:122812731-122812743 chr12:122812734-122812741
2	MYC	chr12:122812337-122812545	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
ENSG00000256304	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10161184	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10161488	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10773090	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10773108	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10773117	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10846714	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs10846852	0.83[EUR][1000 genomes]
rs10846912	0.82[CEU][hapmap];0.90[CHB][hapmap]
rs11057514	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11057522	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11057686	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11057705	0.83[AMR][1000 genomes]
rs11057813	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11057819	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11058562	1.00[YRI][hapmap]
rs11503023	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11610303	1.00[YRI][hapmap]
rs12812332	0.83[CEU][hapmap];0.86[CHB][hapmap]
rs12817342	1.00[YRI][hapmap]
rs12818177	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12828876	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12829449	0.84[EUR][1000 genomes]
rs1392142	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes]
rs1532579	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes]
rs1553178	0.91[CHB][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2341438	0.83[EUR][1000 genomes]
rs3825096	0.91[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs4758658	1.00[YRI][hapmap]
rs4758664	0.82[EUR][1000 genomes]
rs4758665	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4758693	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4758695	0.91[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs61021925	0.84[EUR][1000 genomes]
rs6488947	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes]
rs7305360	0.82[EUR][1000 genomes]
rs7313121	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7313284	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7959550	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes]
rs7961258	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7972832	0.85[EUR][1000 genomes]
rs7973480	0.85[EUR][1000 genomes]
rs7974160	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7975492	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7978636	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs868181	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9788228	0.94[CEU][hapmap];0.84[EUR][1000 genomes];0.82[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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 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	chr12:122754600-122822400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr12:122770200-122821600	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr12:122770400-122821800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:122775600-122833600	Strong transcription	Liver	Liver
5	chr12:122776000-122822200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:122780000-122827200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:122780400-122812600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:122781400-122821400	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr12:122785800-122827200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:122788200-122821200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr12:122791200-122841600	Strong transcription	Placenta	Placenta
12	chr12:122792400-122819800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:122794600-122832600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:122795800-122818200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:122797200-122814000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:122797200-122822400	Strong transcription	Fetal Muscle Leg	muscle
17	chr12:122798600-122813200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:122800400-122820600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:122804000-122817000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr12:122804000-122817800	Weak transcription	Stomach Mucosa	stomach
21	chr12:122804200-122817400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:122804200-122839000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:122805600-122813000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:122806000-122813000	Strong transcription	Adipose Nuclei	Adipose
25	chr12:122806200-122813800	Strong transcription	Fetal Brain Female	brain
26	chr12:122806200-122815000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:122806200-122821400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:122806400-122813000	Strong transcription	Duodenum Mucosa	Duodenum
29	chr12:122806400-122813000	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr12:122806400-122813000	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr12:122806600-122813200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr12:122808600-122817400	Weak transcription	GM12878-XiMat	blood
33	chr12:122809600-122822000	Strong transcription	Fetal Intestine Small	intestine
34	chr12:122809600-122827400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:122809800-122812800	Strong transcription	Aorta	Aorta
36	chr12:122809800-122813000	Strong transcription	HepG2	liver
37	chr12:122809800-122820600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:122810000-122813000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:122810000-122813400	Strong transcription	Brain Germinal Matrix	brain
40	chr12:122810000-122813800	Strong transcription	Fetal Intestine Large	intestine
41	chr12:122810000-122820800	Strong transcription	Fetal Stomach	stomach
42	chr12:122810000-122820800	Strong transcription	Osteobl	bone
43	chr12:122810000-122821200	Strong transcription	Stomach Smooth Muscle	stomach
44	chr12:122810000-122821400	Strong transcription	Fetal Muscle Trunk	muscle
45	chr12:122810200-122812800	Strong transcription	Colon Smooth Muscle	Colon
46	chr12:122810200-122812800	Strong transcription	Pancreas	Pancrea
47	chr12:122810200-122812800	Strong transcription	NHEK	skin
48	chr12:122810200-122813000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:122810200-122813000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:122810200-122813200	Strong transcription	Cortex derived primary cultured neurospheres	brain

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