Variant report

Variant	rs55848094
Chromosome Location	chr12:120966659-120966660
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:230)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:230 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr12:120966510-120968109	A549	lung:	n/a	n/a
2	POLR2A	chr12:120966548-120967342	MCF-7	breast:	n/a	n/a
3	IRF1	chr12:120966627-120967990	K562	blood:	n/a	chr12:120967969-120967979 chr12:120967969-120967983 chr12:120967965-120967979 chr12:120967887-120967896 chr12:120967957-120967977
4	YY1	chr12:120966554-120967374	SK-N-SH	brain:	n/a	chr12:120966936-120966948
5	CEBPB	chr12:120966633-120967426	A549	lung:	n/a	chr12:120966981-120966994
6	POLR2A	chr12:120966453-120967749	PFSK-1	brain:	n/a	n/a
7	YY1	chr12:120966510-120967392	A549	lung:	n/a	chr12:120966936-120966948
8	ATF3	chr12:120966588-120967242	A549	lung:	n/a	n/a
9	POLR2A	chr12:120966555-120967334	GM12878	blood:	n/a	n/a
10	POLR2A	chr12:120966545-120967284	ECC-1	luminal epithelium:	n/a	n/a
11	ATF2	chr12:120966571-120967241	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:120966617-120967356	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr12:120966606-120967309	PANC-1	pancreas:	n/a	n/a
14	TCF12	chr12:120966595-120967340	ECC-1	luminal epithelium:	n/a	n/a
15	TAF1	chr12:120966541-120967309	PFSK-1	brain:	n/a	n/a
16	TEAD4	chr12:120966494-120967896	K562	blood:	n/a	n/a
17	MXI1	chr12:120966605-120967897	IMR90	lung:	n/a	n/a
18	NR2F2	chr12:120966538-120967284	K562	blood:	n/a	n/a
19	POLR2A	chr12:120966561-120967403	HUVEC	blood vessel:	n/a	n/a
20	TAF7	chr12:120966609-120967151	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr12:120966595-120967226	GM12891	blood:	n/a	n/a
22	SIN3AK20	chr12:120966491-120967185	SK-N-SH	brain:	n/a	n/a
23	GATA3	chr12:120966614-120967796	A549	lung:	n/a	chr12:120967046-120967053
24	TBL1XR1	chr12:120966634-120967806	K562	blood:	n/a	n/a
25	EP300	chr12:120966634-120967280	HepG2	liver:	n/a	n/a
26	MAX	chr12:120966636-120967259	MCF-7	breast:	n/a	n/a
27	TAF1	chr12:120966621-120967181	Hela-S3	cervix:	n/a	n/a
28	MAX	chr12:120966487-120967945	A549	lung:	n/a	n/a
29	YY1	chr12:120966548-120967281	HepG2	liver:	n/a	chr12:120966936-120966948
30	POLR2A	chr12:120966477-120967391	PFSK-1	brain:	n/a	n/a
31	TAF1	chr12:120966617-120967182	HepG2	liver:	n/a	n/a
32	CEBPB	chr12:120966543-120967379	HCT-116	colon:	n/a	chr12:120966981-120966994
33	KAP1	chr12:120966626-120967964	HEK293	kidney:	n/a	n/a
34	ETS1	chr12:120966574-120967285	A549	lung:	n/a	chr12:120967107-120967121
35	PML	chr12:120966582-120967354	K562	blood:	n/a	n/a
36	UBTF	chr12:120966656-120967321	K562	blood:	n/a	n/a
37	CHD1	chr12:120966365-120967943	IMR90	lung:	n/a	n/a
38	MAX	chr12:120966621-120967287	A549	lung:	n/a	n/a
39	POLR2A	chr12:120966596-120967359	H1-hESC	embryonic stem cell:	n/a	n/a
40	YY1	chr12:120966545-120967354	K562	blood:	n/a	chr12:120966936-120966948
41	POLR2A	chr12:120966638-120967235	PBDE	blood:	n/a	n/a
42	YY1	chr12:120966412-120967362	H1-hESC	embryonic stem cell:	n/a	chr12:120966936-120966948
43	REST	chr12:120966418-120967932	H1-neurons	neurons:	n/a	n/a
44	YY1	chr12:120966536-120967355	K562	blood:	n/a	chr12:120966936-120966948
45	POLR2A	chr12:120966556-120967326	K562	blood:	n/a	n/a
46	ELF1	chr12:120966624-120967361	MCF-7	breast:	n/a	n/a
47	POLR2A	chr12:120966293-120967864	HUVEC	blood vessel:	n/a	n/a
48	USF1	chr12:120966515-120967227	A549	lung:	n/a	n/a
49	RUNX3	chr12:120966486-120967489	GM12878	blood:	n/a	n/a
50	GATA3	chr12:120966521-120967829	MCF-7	breast:	n/a	chr12:120967046-120967053

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120905972..120909439-chr12:120965576..120970322,8	MCF-7	breast:
2	chr12:120728049..120731590-chr12:120965249..120968541,5	K562	blood:
3	chr12:120932502..120935417-chr12:120966408..120968984,3	MCF-7	breast:
4	chr12:120637319..120639058-chr12:120965439..120967173,2	K562	blood:
5	chr12:120966448..120968669-chr12:120990053..120993175,3	MCF-7	breast:
6	chr12:120728453..120733011-chr12:120965347..120973411,16	MCF-7	breast:
7	chr12:120964646..120969249-chr12:120969286..120973951,11	MCF-7	breast:
8	chr12:120965360..120967085-chr12:121018477..121020344,2	MCF-7	breast:
9	chr12:120941530..120943140-chr12:120965565..120967204,2	K562	blood:
10	chr12:120932523..120935512-chr12:120965345..120968367,3	MCF-7	breast:
11	chr12:120637319..120640372-chr12:120965439..120969225,4	K562	blood:
12	chr12:120965472..120968197-chr12:121646463..121648820,2	K562	blood:
13	chr12:120729237..120731146-chr12:120965181..120968217,3	MCF-7	breast:
14	chr12:120905660..120907924-chr12:120965439..120968401,2	MCF-7	breast:
15	chr12:120932975..120935609-chr12:120965561..120969430,6	K562	blood:
16	chr12:120957931..120961422-chr12:120962483..120967009,5	K562	blood:
17	chr12:120934054..120936287-chr12:120966292..120969256,3	K562	blood:
18	chr12:120907343..120910344-chr12:120965426..120968868,4	K562	blood:

No data

Variant related genes	Relation type
RNF10	TF binding region
ENSG00000088986	Chromatin interaction
ENSG00000222601	Chromatin interaction
ENSG00000241030	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000135124	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000167272	Chromatin interaction
ENSG00000089157	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1048830	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1050187	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10744752	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10774549	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10774551	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774553	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10774555	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774560	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10774561	0.85[EUR][1000 genomes]
rs10849753	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849754	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849758	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849759	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849766	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10849767	0.84[EUR][1000 genomes]
rs11065132	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11065145	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065150	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11065151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065154	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12309824	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12312613	0.84[EUR][1000 genomes]
rs12370495	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12371550	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12813930	0.93[ASN][1000 genomes]
rs12814055	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1563333	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2138251	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2168319	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2233676	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235217	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2235218	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2393590	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3213565	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3742052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759394	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759396	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3893104	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3916065	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4766966	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4766968	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4766969	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4767897	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4767902	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4767903	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767904	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767905	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767906	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4767910	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767912	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767914	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767916	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs509445	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs516479	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs523522	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs524735	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs546417	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56029862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs579919	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs585510	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs603574	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61945857	0.91[AMR][1000 genomes]
rs643372	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs651627	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs655530	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs670568	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs687873	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7136951	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71454645	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7308053	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7471	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7488320	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9040	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9788155	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9795621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs55848094	COQ5	cis	Nerve Tibial	GTEx
rs55848094	COQ5	cis	Adipose Subcutaneous	GTEx
rs55848094	COQ5	cis	Artery Aorta	GTEx
rs55848094	COQ5	cis	Heart Left Ventricle	GTEx
rs55848094	COQ5	cis	lung	GTEx
rs55848094	COQ5	cis	Artery Tibial	GTEx
rs55848094	COQ5	Cis_1M	lymphoblastoid	RTeQTL
rs55848094	COQ5	cis	Esophagus Muscularis	GTEx
rs55848094	COQ5	cis	Skin Sun Exposed Lower leg	GTEx
rs55848094	COQ5	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120965800-120967600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:120966000-120966800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:120966000-120967000	Active TSS	NHLF	lung
4	chr12:120966000-120967200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:120966000-120967200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:120966000-120967200	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr12:120966000-120967200	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr12:120966000-120967200	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr12:120966000-120967200	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr12:120966000-120967200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:120966000-120967200	Active TSS	Muscle Satellite Cultured Cells	--
12	chr12:120966000-120967200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:120966000-120967200	Active TSS	HSMM	muscle
14	chr12:120966000-120967200	Active TSS	K562	blood
15	chr12:120966000-120967200	Active TSS	NH-A	brain
16	chr12:120966000-120967400	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr12:120966000-120967400	Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr12:120966000-120967400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:120966000-120967400	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr12:120966000-120967400	Active TSS	Thymus	Thymus
21	chr12:120966000-120967400	Active TSS	Monocytes-CD14+_RO01746	blood
22	chr12:120966000-120967600	Active TSS	H1 Cell Line	embryonic stem cell
23	chr12:120966000-120967600	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr12:120966000-120967600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:120966000-120967600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:120966000-120967600	Active TSS	Brain Hippocampus Middle	brain
27	chr12:120966000-120967600	Active TSS	Fetal Lung	lung
28	chr12:120966000-120967600	Active TSS	A549	lung
29	chr12:120966000-120967800	Active TSS	H9 Cell Line	embryonic stem cell
30	chr12:120966000-120967800	Active TSS	Colon Smooth Muscle	Colon
31	chr12:120966000-120967800	Active TSS	Fetal Muscle Trunk	muscle
32	chr12:120966000-120968000	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr12:120966000-120968000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:120966000-120968000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:120966000-120968000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:120966000-120968000	Active TSS	Brain Anterior Caudate	brain
37	chr12:120966000-120968000	Active TSS	Fetal Brain Female	brain
38	chr12:120966000-120968000	Active TSS	Fetal Stomach	stomach
39	chr12:120966000-120968000	Active TSS	GM12878-XiMat	blood
40	chr12:120966000-120968200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:120966000-120968200	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr12:120966000-120968200	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr12:120966000-120968200	Active TSS	Fetal Kidney	kidney
44	chr12:120966000-120968200	Active TSS	Psoas Muscle	Psoas
45	chr12:120966000-120968200	Active TSS	Right Atrium	heart
46	chr12:120966000-120968200	Active TSS	NHDF-Ad	bronchial
47	chr12:120966000-120968400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:120966000-120968400	Active TSS	Rectal Smooth Muscle	rectum
49	chr12:120966000-120968400	Active TSS	HepG2	liver
50	chr12:120966000-120968600	Active TSS	Rectal Mucosa Donor 29	rectum

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