Variant report

Variant	rs12992818
Chromosome Location	chr2:37384362-37384363
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	POLR2A	chr2:37383380-37384485	K562	blood:	n/a	n/a
2	MYC	chr2:37383361-37384617	MCF10A-Er-Src	breast:	n/a	chr2:37383686-37383696
3	MYC	chr2:37384101-37384535	NB4	blood:	n/a	n/a
4	POLR2A	chr2:37383474-37384948	HepG2	liver:	n/a	n/a
5	MYC	chr2:37384138-37384411	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr2:37384048-37384394	GM12891	blood:	n/a	n/a
7	POLR2A	chr2:37383892-37384478	U87	brain:	n/a	n/a
8	RELA	chr2:37383590-37384840	GM15510	blood:	n/a	n/a
9	POLR2A	chr2:37383892-37384518	U87	brain:	n/a	n/a
10	TAF1	chr2:37383726-37384388	HepG2	liver:	n/a	n/a
11	CHD2	chr2:37383519-37384673	Hela-S3	cervix:	n/a	n/a
12	NFIC	chr2:37383936-37384480	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr2:37383730-37384658	HCT-116	colon:	n/a	n/a
14	USF1	chr2:37384096-37384442	SK-N-SH_RA	brain:	n/a	chr2:37384149-37384165
15	EP300	chr2:37384170-37384879	HepG2	liver:	n/a	chr2:37384846-37384859
16	POLR2A	chr2:37383172-37385020	GM12878	blood:	n/a	n/a
17	MAX	chr2:37383082-37384701	A549	lung:	n/a	chr2:37383686-37383696
18	RUNX3	chr2:37384025-37384768	GM12878	blood:	n/a	n/a
19	POLR2A	chr2:37383379-37384822	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr2:37383850-37384491	HUVEC	blood vessel:	n/a	n/a
21	STAT2	chr2:37383258-37384656	K562	blood:	n/a	chr2:37384118-37384129 chr2:37384115-37384130 chr2:37383475-37383487
22	STAT5A	chr2:37384257-37384596	GM12878	blood:	n/a	n/a
23	POLR2A	chr2:37383959-37384422	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr2:37383952-37384939	HepG2	liver:	n/a	n/a
25	MAX	chr2:37383194-37384582	SK-N-SH	brain:	n/a	chr2:37383686-37383696
26	POLR2A	chr2:37383810-37384470	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr2:37383335-37384867	GM19193	blood:	n/a	n/a
28	POLR2A	chr2:37383125-37385004	GM12891	blood:	n/a	n/a
29	MAX	chr2:37383942-37384528	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAX	chr2:37384057-37384713	HepG2	liver:	n/a	n/a
31	POLR2A	chr2:37383811-37384773	GM10847	blood:	n/a	n/a
32	POLR2A	chr2:37383571-37384416	PFSK-1	brain:	n/a	n/a
33	ZBTB33	chr2:37384055-37384378	GM12878	blood:	n/a	chr2:37384221-37384236
34	POLR2A	chr2:37384041-37385052	GM12892	blood:	n/a	n/a
35	BRCA1	chr2:37384045-37384415	H1-hESC	embryonic stem cell:	n/a	n/a
36	HCFC1	chr2:37383108-37384935	Hela-S3	cervix:	n/a	n/a
37	PAX5	chr2:37383712-37384385	GM12892	blood:	n/a	n/a
38	POLR2A	chr2:37383249-37384979	HepG2	liver:	n/a	n/a
39	SIN3AK20	chr2:37383505-37384453	SK-N-SH	brain:	n/a	n/a
40	TAF1	chr2:37384012-37384407	A549	lung:	n/a	n/a
41	CREB1	chr2:37383897-37384403	A549	lung:	n/a	n/a
42	MAX	chr2:37383279-37384491	Hela-S3	cervix:	n/a	chr2:37383686-37383696
43	MAX	chr2:37383989-37384477	MCF-7	breast:	n/a	n/a
44	POLR2A	chr2:37382972-37384947	GM12878	blood:	n/a	n/a
45	POLR2A	chr2:37383763-37384437	GM12878	blood:	n/a	n/a
46	MAX	chr2:37383449-37384592	MCF-7	breast:	n/a	chr2:37383686-37383696
47	E2F6	chr2:37383975-37384522	H1-hESC	embryonic stem cell:	n/a	chr2:37384340-37384349 chr2:37384151-37384161
48	POLR2A	chr2:37383725-37384633	HUVEC	blood vessel:	n/a	n/a
49	MXI1	chr2:37384086-37384416	GM12878	blood:	n/a	n/a
50	POLR2A	chr2:37384081-37384398	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:37374955..37377720-chr2:37382756..37385654,3	MCF-7	breast:
2	chr2:37373517..37380041-chr2:37380520..37385811,10	MCF-7	breast:
3	chr2:37381640..37387428-chr2:37421417..37425727,6	MCF-7	breast:
4	chr2:37372644..37374273-chr2:37382533..37385006,2	K562	blood:
5	chr2:37375493..37378915-chr2:37383921..37387868,3	K562	blood:
6	chr2:37383967..37386325-chr2:37457482..37459560,2	MCF-7	breast:
7	chr2:37382658..37387385-chr2:37421093..37425812,6	MCF-7	breast:

Variant related genes	Relation type
EIF2AK2	TF binding region
ENSG00000138068	Chromatin interaction
ENSG00000218739	Chromatin interaction
ENSG00000233159	Chromatin interaction
ENSG00000055332	Chromatin interaction
ENSG00000224891	Chromatin interaction
ENSG00000003509	Chromatin interaction
ENSG00000115816	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10187017	0.94[ASN][1000 genomes]
rs10201149	0.93[ASN][1000 genomes]
rs11894414	0.84[ASN][1000 genomes]
rs11894449	0.84[ASN][1000 genomes]
rs11899117	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11904602	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12475964	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12619587	0.96[ASN][1000 genomes]
rs12620426	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12712526	0.84[ASN][1000 genomes]
rs12992610	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12994023	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12994644	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13008236	0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13008681	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13020602	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13026696	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13027513	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2014498	0.96[ASN][1000 genomes]
rs2254958	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2270414	0.81[ASN][1000 genomes]
rs3856500	0.95[ASN][1000 genomes]
rs3936292	0.93[ASN][1000 genomes]
rs4670662	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4670663	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4670664	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4670665	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7340267	0.96[ASN][1000 genomes]
rs7575957	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7580127	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7580323	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7580428	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs759667	0.95[ASN][1000 genomes]
rs7606786	0.84[AMR][1000 genomes];0.83[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	esv3326671	chr2:37383073-37385621	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12992818	CEBPZ	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37382600-37384400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:37382600-37384600	Active TSS	Brain Angular Gyrus	brain
3	chr2:37382800-37384400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:37382800-37384400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:37382800-37384400	Active TSS	GM12878-XiMat	blood
6	chr2:37382800-37384600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:37382800-37384600	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr2:37382800-37384600	Active TSS	Fetal Kidney	kidney
9	chr2:37382800-37384600	Active TSS	A549	lung
10	chr2:37382800-37384800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr2:37383000-37384400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:37383000-37384400	Active TSS	NHLF	lung
13	chr2:37383000-37384600	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr2:37383000-37384600	Active TSS	Aorta	Aorta
15	chr2:37383000-37384600	Active TSS	Pancreas	Pancrea
16	chr2:37383000-37384800	Active TSS	HSMM	muscle
17	chr2:37383200-37384400	Active TSS	Fetal Stomach	stomach
18	chr2:37383200-37384400	Active TSS	Gastric	stomach
19	chr2:37383200-37384400	Active TSS	Placenta Amnion	Placenta Amnion
20	chr2:37383200-37384600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:37383200-37384600	Active TSS	Left Ventricle	heart
22	chr2:37383200-37384600	Active TSS	Lung	lung
23	chr2:37383200-37384800	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr2:37383200-37384800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:37383200-37384800	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr2:37383200-37385000	Active TSS	Ovary	ovary
27	chr2:37383400-37384400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:37383400-37384400	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr2:37383400-37384400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:37383400-37384400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:37383400-37384400	Active TSS	Muscle Satellite Cultured Cells	--
32	chr2:37383400-37384400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:37383400-37384400	Active TSS	Brain Cingulate Gyrus	brain
34	chr2:37383400-37384400	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr2:37383400-37384400	Active TSS	Colonic Mucosa	Colon
36	chr2:37383400-37384400	Active TSS	Duodenum Mucosa	Duodenum
37	chr2:37383400-37384400	Active TSS	Esophagus	oesophagus
38	chr2:37383400-37384400	Active TSS	Fetal Muscle Leg	muscle
39	chr2:37383400-37384400	Active TSS	Stomach Mucosa	stomach
40	chr2:37383400-37384400	Active TSS	Thymus	Thymus
41	chr2:37383400-37384400	Active TSS	NHEK	skin
42	chr2:37383400-37384600	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr2:37383400-37384600	Active TSS	Brain Anterior Caudate	brain
44	chr2:37383400-37384600	Active TSS	Brain Hippocampus Middle	brain
45	chr2:37383400-37384600	Active TSS	Brain Substantia Nigra	brain
46	chr2:37383400-37384600	Active TSS	Colon Smooth Muscle	Colon
47	chr2:37383400-37384600	Active TSS	Fetal Lung	lung
48	chr2:37383400-37384600	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr2:37383400-37384600	Active TSS	Right Ventricle	heart
50	chr2:37383400-37384600	Active TSS	Sigmoid Colon	Sigmoid Colon

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