Variant report

Variant	rs61926301
Chromosome Location	chr12:51157863-51157864
allele	G/T
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	chr12:51157094-51158579	K562	blood:	n/a	n/a
2	IRF1	chr12:51157471-51158468	K562	blood:	n/a	chr12:51157632-51157645 chr12:51158007-51158016
3	BHLHE40	chr12:51157464-51159370	K562	blood:	n/a	chr12:51159231-51159247
4	MYC	chr12:51157406-51158675	A549	lung:	n/a	chr12:51157736-51157745 chr12:51157735-51157746
5	POLR2A	chr12:51155897-51159173	MCF10A-Er-Src	breast:	n/a	n/a
6	MAX	chr12:51157047-51159081	ECC-1	luminal epithelium:	n/a	chr12:51157736-51157745 chr12:51157735-51157746
7	ZNF384	chr12:51157157-51158043	K562	blood:	n/a	n/a
8	GABPA	chr12:51157365-51157915	A549	lung:	n/a	n/a
9	RELA	chr12:51157423-51159365	GM15510	blood:	n/a	n/a
10	SIN3AK20	chr12:51157838-51157963	HepG2	liver:	n/a	n/a
11	POLR2A	chr12:51157126-51158968	GM18505	blood:	n/a	n/a
12	PAX5	chr12:51157543-51158036	GM12878	blood:	n/a	n/a
13	POLR2A	chr12:51157348-51158040	U87	brain:	n/a	n/a
14	RCOR1	chr12:51157551-51158040	K562	blood:	n/a	n/a
15	TAF1	chr12:51157837-51158043	GM12892	blood:	n/a	n/a
16	RCOR1	chr12:51157471-51159462	GM12878	blood:	n/a	n/a
17	YY1	chr12:51157080-51158718	SK-N-SH	brain:	n/a	chr12:51157711-51157733 chr12:51157716-51157735 chr12:51158247-51158261 chr12:51157724-51157732 chr12:51157721-51157733 chr12:51157723-51157733 chr12:51157722-51157730 chr12:51158454-51158463 chr12:51158448-51158462
18	MXI1	chr12:51157141-51159260	HepG2	liver:	n/a	chr12:51157735-51157744
19	USF1	chr12:51157368-51157998	K562	blood:	n/a	n/a
20	POLR2A	chr12:51157465-51158025	HUVEC	blood vessel:	n/a	n/a
21	NFE2	chr12:51157564-51157892	GM12878	blood:	n/a	chr12:51157734-51157743
22	MAX	chr12:51156942-51159377	Hela-S3	cervix:	n/a	chr12:51157736-51157745 chr12:51157735-51157746
23	TEAD4	chr12:51157414-51158375	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr12:51157354-51158704	HUVEC	blood vessel:	n/a	n/a
25	RUNX3	chr12:51157105-51158970	GM12878	blood:	n/a	n/a
26	YY1	chr12:51157239-51158090	A549	lung:	n/a	chr12:51157711-51157733 chr12:51157716-51157735 chr12:51157724-51157732 chr12:51157721-51157733 chr12:51157723-51157733 chr12:51157722-51157730
27	EGR1	chr12:51157430-51158440	K562	blood:	n/a	chr12:51157996-51158010 chr12:51157994-51158009 chr12:51157995-51158008
28	POLR2A	chr12:51157431-51158713	A549	lung:	n/a	n/a
29	GTF3C2	chr12:51156780-51157962	K562	blood:	n/a	n/a
30	ZEB1	chr12:51157846-51158203	GM12878	blood:	n/a	chr12:51158085-51158097 chr12:51158087-51158096
31	MAZ	chr12:51157170-51159278	K562	blood:	n/a	chr12:51157736-51157745 chr12:51157735-51157746
32	POLR2A	chr12:51157835-51158378	HepG2	liver:	n/a	n/a
33	POLR2A	chr12:51157352-51158674	HepG2	liver:	n/a	n/a
34	TCF7L2	chr12:51157217-51159252	HCT-116	colon:	n/a	chr12:51158761-51158777 chr12:51158806-51158815 chr12:51158761-51158777 chr12:51158762-51158776 chr12:51158762-51158776 chr12:51158765-51158774
35	E2F4	chr12:51157214-51158706	K562	blood:	n/a	chr12:51158454-51158463 chr12:51158053-51158065
36	MAX	chr12:51157478-51158515	GM12878	blood:	n/a	chr12:51157736-51157745 chr12:51157735-51157746
37	POLR2A	chr12:51156950-51159129	HL-60	blood:	n/a	n/a
38	FOXP2	chr12:51157467-51157917	SK-N-MC	brain:	n/a	n/a
39	POLR2A	chr12:51157031-51159278	GM12891	blood:	n/a	n/a
40	POLR2A	chr12:51157113-51158596	HUVEC	blood vessel:	n/a	n/a
41	POU2F2	chr12:51157492-51157909	GM12878	blood:	n/a	n/a
42	POLR2A	chr12:51157136-51158755	ECC-1	luminal epithelium:	n/a	n/a
43	MAX	chr12:51157034-51159237	A549	lung:	n/a	chr12:51157736-51157745 chr12:51157735-51157746
44	ZBTB7A	chr12:51157300-51158870	ECC-1	luminal epithelium:	n/a	chr12:51158568-51158575
45	TBP	chr12:51157087-51159718	K562	blood:	n/a	n/a
46	RCOR1	chr12:51157107-51159365	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr12:51157151-51158785	HepG2	liver:	n/a	n/a
48	TRIM28	chr12:51157366-51158162	K562	blood:	n/a	n/a
49	EGR1	chr12:51157511-51158310	GM12878	blood:	n/a	chr12:51157996-51158010 chr12:51157994-51158009 chr12:51157995-51158008
50	POLR2A	chr12:51157445-51158431	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:50497524..50499290-chr12:51157685..51160627,2	MCF-7	breast:
2	chr12:51156114..51160622-chr12:51418657..51421869,11	K562	blood:
3	chr12:51135835..51138035-chr12:51156285..51158061,2	MCF-7	breast:
4	chr12:50793597..50795392-chr12:51156771..51159161,2	MCF-7	breast:
5	chr12:51154877..51158479-chr12:51475248..51478841,3	K562	blood:
6	chr12:51157036..51159803-chr12:51442013..51443781,2	K562	blood:
7	chr11:64878931..64879673-chr12:51157386..51158326,2	NB4	blood:
8	chr12:51157667..51158324-chr17:79008825..79009569,2	Hela-S3	cervix:
9	chr12:51156953..51158671-chr12:51406761..51408845,2	K562	blood:
10	chr11:86382788..86383460-chr12:51157469..51158248,2	Hela-S3	cervix:
11	chr12:51155914..51160622-chr12:51417270..51421869,9	K562	blood:
12	chr11:67777437..67778023-chr12:51157504..51158407,2	Hela-S3	cervix:
13	chr12:51155753..51160968-chr12:51475872..51478809,5	MCF-7	breast:
14	chr12:51157750..51158421-chr8:103667480..103668288,2	Hela-S3	cervix:
15	chr12:51155985..51158147-chr12:51315840..51318391,2	MCF-7	breast:
16	chr12:51156231..51158960-chr12:51317356..51321250,3	K562	blood:
17	chr12:51156536..51158196-chr12:51316559..51318763,2	K562	blood:
18	chr12:51156477..51159239-chr12:51440349..51444629,5	K562	blood:
19	chr1:16840595..16841107-chr12:51157299..51158293,2	Hela-S3	cervix:
20	chr12:51157779..51158529-chr17:49021485..49022127,3	Hela-S3	cervix:
21	chr12:51156583..51159237-chr12:51477140..51478642,2	MCF-7	breast:
22	chr12:51156398..51158646-chr12:51422122..51423732,2	MCF-7	breast:
23	chr12:51157194..51157900-chr12:118541616..118542435,2	Hela-S3	cervix:
24	chr12:51156345..51159697-chr12:51418125..51424480,11	MCF-7	breast:
25	chr12:51157529..51159205-chr6:26158256..26159760,2	MCF-7	breast:
26	chr12:51157405..51159033-chr12:51418554..51420263,2	MCF-7	breast:
27	chr12:51157531..51158382-chr3:119814147..119814798,2	Hela-S3	cervix:
28	chr12:51155941..51160401-chr12:51475746..51478915,6	K562	blood:
29	chr12:51157187..51158117-chr19:19496545..19497370,2	NB4	blood:
30	chr12:50897453..50902823-chr12:51156009..51160960,8	MCF-7	breast:

Variant related genes	Relation type
ATF1	TF binding region
ENSG00000272028	Chromatin interaction
ENSG00000176834	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000050426	Chromatin interaction
ENSG00000185432	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000200428	Chromatin interaction
ENSG00000161813	Chromatin interaction
ENSG00000206652	Chromatin interaction
ENSG00000066084	Chromatin interaction
ENSG00000242622	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000110911	Chromatin interaction
ENSG00000175866	Chromatin interaction
ENSG00000167588	Chromatin interaction
ENSG00000247011	Chromatin interaction
ENSG00000006534	Chromatin interaction
ENSG00000151376	Chromatin interaction
ENSG00000167491	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10783386	0.80[EUR][1000 genomes]
rs10783387	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10876084	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10876087	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10876092	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11169562	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11169563	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11169567	0.88[EUR][1000 genomes]
rs11169570	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11169571	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11169572	0.84[EUR][1000 genomes]
rs1129406	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11503907	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12372718	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34645899	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34863430	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35353300	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4307773	0.81[EUR][1000 genomes]
rs4986838	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61926299	0.80[EUR][1000 genomes]
rs61926303	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7133974	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7297504	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7304335	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7306677	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7974517	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9943712	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3497481	chr12:51150734-51185125	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
2	esv3497482	chr12:51151798-51185232	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
3	esv3386327	chr12:51154734-51184232	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs61926301	ATF1	cis	Adipose Subcutaneous	GTEx
rs61926301	ATF1	cis	Artery Tibial	GTEx
rs61926301	DIP2B	Cis_1M	lymphoblastoid	RTeQTL
rs61926301	ATF1	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51155600-51159600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:51155800-51158600	Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr12:51155800-51159400	Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr12:51156000-51158800	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr12:51156000-51159200	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr12:51156000-51159200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr12:51156000-51159200	Active TSS	Left Ventricle	heart
8	chr12:51156000-51159600	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr12:51156000-51159600	Active TSS	Colonic Mucosa	Colon
10	chr12:51156000-51159600	Active TSS	Right Ventricle	heart
11	chr12:51156000-51159600	Active TSS	K562	blood
12	chr12:51156200-51158600	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr12:51156200-51159000	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr12:51156200-51159000	Active TSS	Fetal Intestine Large	intestine
15	chr12:51156200-51159200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr12:51156200-51159400	Active TSS	H1 Cell Line	embryonic stem cell
17	chr12:51156200-51159400	Active TSS	H9 Cell Line	embryonic stem cell
18	chr12:51156200-51159400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:51156200-51159400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:51156200-51159400	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr12:51156200-51159400	Active TSS	Placenta	Placenta
22	chr12:51156200-51159400	Active TSS	Psoas Muscle	Psoas
23	chr12:51156200-51159600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:51156200-51159800	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr12:51156200-51160000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:51156400-51158800	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr12:51156400-51158800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:51156400-51158800	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr12:51156400-51159000	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr12:51156400-51159000	Active TSS	Fetal Kidney	kidney
31	chr12:51156400-51159200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:51156400-51159200	Active TSS	HepG2	liver
33	chr12:51156400-51159400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:51156400-51159400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:51156400-51159800	Active TSS	Rectal Smooth Muscle	rectum
36	chr12:51156600-51158400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:51156600-51158600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:51156600-51158600	Active TSS	Duodenum Mucosa	Duodenum
39	chr12:51156600-51158800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:51156600-51158800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:51156600-51158800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:51156600-51158800	Active TSS	Primary T cells from cord blood	blood
43	chr12:51156600-51158800	Active TSS	Muscle Satellite Cultured Cells	--
44	chr12:51156600-51158800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:51156600-51159000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:51156600-51159000	Active TSS	Brain Anterior Caudate	brain
47	chr12:51156600-51159000	Active TSS	Fetal Intestine Small	intestine
48	chr12:51156600-51159200	Active TSS	A549	lung
49	chr12:51156600-51159400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:51156600-51159400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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