Variant report

Variant	rs1179464
Chromosome Location	chr12:120889150-120889151
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	POLR2A	chr12:120889095-120889631	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120883001..120885733-chr12:120888427..120893155,6	K562	blood:
2	chr12:120888535..120893350-chr12:120899980..120905393,5	MCF-7	breast:

Variant related genes	Relation type
RPL31P52	TF binding region
TRIAP1	TF binding region
ENSG00000257218	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000111786	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1037611	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10774550	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10774557	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10774558	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10774559	0.82[EUR][1000 genomes]
rs10849756	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10849760	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10849762	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10849764	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11065144	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11065147	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11065157	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11065158	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11065163	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11065164	0.82[EUR][1000 genomes]
rs1151845	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1151846	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1167688	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1167696	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1167699	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1167701	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1167702	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1167704	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1167705	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1167706	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1167713	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1167714	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1167715	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1167716	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1167719	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1167720	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1167721	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1167722	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1167723	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1167724	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1179460	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1179462	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1179463	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1179465	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12227470	0.81[EUR][1000 genomes]
rs12369178	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12370706	0.83[EUR][1000 genomes]
rs1592361	0.82[EUR][1000 genomes]
rs1671762	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1671765	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1671766	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1671769	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1710130	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1710132	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1710142	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1710143	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1710144	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1710146	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1794751	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1794752	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2235223	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2292680	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2301456	0.83[EUR][1000 genomes]
rs2673624	0.81[EUR][1000 genomes]
rs2673625	0.81[EUR][1000 genomes]
rs28390349	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3088345	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35801170	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3847971	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4767898	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs526176	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs606443	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs667913	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs671566	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs680795	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7135855	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7307666	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs787818	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs787821	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs787822	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs787823	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs787826	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs787828	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs787830	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs787831	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs787833	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs787834	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7963890	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7972060	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs812560	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8903	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9669663	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1179464	RNF10	Cis_1M	lymphoblastoid	RTeQTL
rs1179464	POP5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120884800-120893000	Weak transcription	Aorta	Aorta
2	chr12:120884800-120893200	Weak transcription	Small Intestine	intestine
3	chr12:120885000-120893800	Weak transcription	Ovary	ovary
4	chr12:120885400-120892200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:120885400-120892200	Weak transcription	Left Ventricle	heart
6	chr12:120885400-120892600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:120885400-120893200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:120885400-120893200	Weak transcription	Colonic Mucosa	Colon
9	chr12:120885400-120893800	Weak transcription	Esophagus	oesophagus
10	chr12:120885400-120893800	Weak transcription	Lung	lung
11	chr12:120885400-120894000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:120885400-120895600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:120885400-120904400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr12:120885400-120906000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr12:120885400-120906000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:120885600-120890000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr12:120885600-120890000	Weak transcription	HMEC	breast
18	chr12:120885600-120890400	Weak transcription	Fetal Lung	lung
19	chr12:120885600-120892600	Weak transcription	Adipose Nuclei	Adipose
20	chr12:120885600-120893800	Weak transcription	HSMMtube	muscle
21	chr12:120885600-120894000	Weak transcription	Brain Anterior Caudate	brain
22	chr12:120885600-120894400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:120885600-120896400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr12:120885600-120904000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:120885600-120904000	Strong transcription	Fetal Stomach	stomach
26	chr12:120885800-120889400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr12:120885800-120890000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:120885800-120890200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:120885800-120890600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:120885800-120890600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:120885800-120890600	Weak transcription	Stomach Mucosa	stomach
32	chr12:120885800-120890800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:120885800-120890800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:120885800-120890800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr12:120885800-120890800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr12:120885800-120890800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr12:120885800-120891200	Weak transcription	NHDF-Ad	bronchial
38	chr12:120885800-120893200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:120885800-120893800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:120885800-120894000	Weak transcription	Brain Angular Gyrus	brain
41	chr12:120885800-120894000	Weak transcription	Psoas Muscle	Psoas
42	chr12:120885800-120894000	Weak transcription	HUVEC	blood vessel
43	chr12:120885800-120894200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr12:120885800-120894200	Weak transcription	Brain Substantia Nigra	brain
45	chr12:120885800-120897800	Weak transcription	Fetal Heart	heart
46	chr12:120885800-120904200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:120885800-120904400	Strong transcription	Fetal Muscle Leg	muscle
48	chr12:120885800-120904400	Weak transcription	Right Atrium	heart
49	chr12:120885800-120904600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:120885800-120904600	Strong transcription	HUES48 Cell Line	embryonic stem cell

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