Variant report

Variant	rs11065164
Chromosome Location	chr12:121018061-121018062
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:121017912-121019735	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr12:121015932-121018301	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:121016717-121019832	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr12:121018009-121018160	GM12891	blood:	n/a	n/a
5	POLR2A	chr12:121017993-121019705	MCF-7	breast:	n/a	n/a
6	POLR2A	chr12:121017856-121018095	GM12878	blood:	n/a	n/a
7	POLR2A	chr12:121017885-121018169	K562	blood:	n/a	n/a
8	POLR2A	chr12:121016295-121019718	A549	lung:	n/a	n/a
9	POLR2A	chr12:121017925-121018355	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr12:121017898-121018170	HCT-116	colon:	n/a	n/a
11	POLR2A	chr12:121016296-121018081	GM12891	blood:	n/a	n/a
12	POLR2A	chr12:121017966-121019831	U87	brain:	n/a	n/a
13	POLR2A	chr12:121016251-121018410	GM12892	blood:	n/a	n/a
14	POLR2A	chr12:121017890-121018149	GM12878	blood:	n/a	n/a
15	POLR2A	chr12:121017938-121018061	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr12:121015719-121018479	GM12891	blood:	n/a	n/a
17	POLR2A	chr12:121017950-121018188	GM12891	blood:	n/a	n/a
18	POLR2A	chr12:121017940-121019593	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr12:121018057-121019709	GM12891	blood:	n/a	n/a
20	POLR2A	chr12:121017988-121019728	HepG2	liver:	n/a	n/a
21	MTA3	chr12:121017901-121019866	GM12878	blood:	n/a	n/a
22	POLR2A	chr12:121017906-121018359	HepG2	liver:	n/a	n/a
23	NFATC1	chr12:121017940-121018455	GM12878	blood:	n/a	n/a
24	POLR2A	chr12:121012978-121019545	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120971743..120974059-chr12:121017467..121020168,3	MCF-7	breast:
2	chr12:121017632..121023235-chr12:121123750..121127979,5	K562	blood:
3	chr12:121002647..121005056-chr12:121017144..121019429,2	MCF-7	breast:
4	chr12:120994023..120996050-chr12:121018061..121019874,2	K562	blood:

No data

Variant related genes	Relation type
POP5	TF binding region
ENSG00000110871	Chromatin interaction
ENSG00000110917	Chromatin interaction
ENSG00000022840	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1037611	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10774550	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10774557	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10774558	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10774559	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849756	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10849760	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10849762	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10849764	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11065144	0.88[EUR][1000 genomes]
rs11065147	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11065157	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11065158	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11065163	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1151845	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1151846	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1167688	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1167696	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167699	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167701	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167702	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167704	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1167705	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1167706	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1167713	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167714	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167715	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167716	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167719	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167720	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167721	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167722	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167723	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167724	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1179460	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1179462	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1179463	0.81[EUR][1000 genomes]
rs1179464	0.82[EUR][1000 genomes]
rs12227470	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12369178	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12370706	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1592361	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1671762	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1671765	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1671766	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1671769	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1710130	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1710132	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1710142	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1710143	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1710144	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1710146	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1794751	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1794752	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2235223	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2292680	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2301456	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2673623	0.80[ASN][1000 genomes]
rs2673624	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2673625	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28390349	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3088345	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35801170	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3847971	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4767898	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs526176	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs606443	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs634688	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs637799	0.82[ASN][1000 genomes]
rs667913	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs671566	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs680795	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7135855	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7307666	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs787818	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs787821	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs787822	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs787823	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs787826	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs787828	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs787830	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs787831	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs787833	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs787834	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7963890	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7972060	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs812560	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8903	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9669663	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[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	nsv906	chr12:120973683-121018441	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv973944	chr12:121017088-121027122	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11065164	RNF10	Cis_1M	lymphoblastoid	RTeQTL
rs11065164	POP5	Cis_1M	lymphoblastoid	RTeQTL
rs11065164	RNF10	cis	multi-tissue	Pritchard

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120976400-121018200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:120977400-121018200	Strong transcription	Fetal Stomach	stomach
3	chr12:120984000-121018200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:120985600-121018200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:120988200-121018200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:120990800-121018200	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr12:120991400-121018200	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr12:121001800-121018200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:121008400-121018200	Strong transcription	HSMM	muscle
10	chr12:121012000-121018200	Strong transcription	Left Ventricle	heart
11	chr12:121012800-121018200	Strong transcription	Brain Substantia Nigra	brain
12	chr12:121015000-121018200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:121015400-121018200	Strong transcription	Brain Inferior Temporal Lobe	brain
14	chr12:121015400-121018200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:121015800-121018200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:121016600-121018200	Genic enhancers	K562	blood
17	chr12:121017200-121018200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:121017200-121018400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
19	chr12:121017400-121018400	Weak transcription	Psoas Muscle	Psoas
20	chr12:121017400-121018400	Weak transcription	NHLF	lung
21	chr12:121017400-121018600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:121017400-121018600	Weak transcription	Ovary	ovary
23	chr12:121017600-121018200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:121017600-121018200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr12:121017600-121018200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:121017600-121018200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:121017600-121018200	Weak transcription	Fetal Brain Male	brain
28	chr12:121017600-121018200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr12:121017600-121018200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr12:121017600-121018200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:121017600-121018200	Weak transcription	Small Intestine	intestine
32	chr12:121017600-121018200	Weak transcription	Stomach Mucosa	stomach
33	chr12:121017600-121018200	Weak transcription	NHDF-Ad	bronchial
34	chr12:121017600-121018400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:121017600-121018400	Weak transcription	Brain Angular Gyrus	brain
36	chr12:121017600-121018600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:121017600-121018600	Weak transcription	Aorta	Aorta
38	chr12:121017600-121018600	Weak transcription	Placenta	Placenta
39	chr12:121017600-121018600	Weak transcription	Gastric	stomach
40	chr12:121017600-121018600	Weak transcription	Pancreas	Pancrea
41	chr12:121017600-121018600	Weak transcription	Right Ventricle	heart
42	chr12:121017600-121018600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr12:121017800-121018200	Enhancers	H9 Cell Line	embryonic stem cell
44	chr12:121017800-121018200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr12:121017800-121018200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr12:121017800-121018200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr12:121017800-121018200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:121017800-121018200	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr12:121017800-121018200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:121017800-121018200	Weak transcription	Brain Anterior Caudate	brain

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