Variant report

Variant	rs10865123
Chromosome Location	chr2:37423487-37423488
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:286)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:286 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr2:37423334-37423983	K562	blood:	n/a	n/a
2	POLR2A	chr2:37423378-37424504	ECC-1	luminal epithelium:	n/a	n/a
3	HCFC1	chr2:37423414-37424398	K562	blood:	n/a	n/a
4	ELF1	chr2:37423226-37424520	MCF-7	breast:	n/a	n/a
5	RCOR1	chr2:37423363-37424368	K562	blood:	n/a	n/a
6	POLR2A	chr2:37423312-37423969	HepG2	liver:	n/a	n/a
7	POLR2A	chr2:37423327-37424434	K562	blood:	n/a	n/a
8	STAT1	chr2:37423404-37423823	GM12878	blood:	n/a	n/a
9	JUND	chr2:37423470-37424455	A549	lung:	n/a	n/a
10	TBP	chr2:37423398-37423817	GM12878	blood:	n/a	n/a
11	TEAD4	chr2:37423251-37424437	K562	blood:	n/a	n/a
12	PML	chr2:37423401-37424006	K562	blood:	n/a	n/a
13	ZMIZ1	chr2:37423355-37423881	K562	blood:	n/a	n/a
14	ELF1	chr2:37423214-37424064	GM12878	blood:	n/a	n/a
15	ELF1	chr2:37423335-37424018	HepG2	liver:	n/a	n/a
16	POLR2A	chr2:37423390-37424273	GM18526	blood:	n/a	n/a
17	ZNF143	chr2:37423409-37424057	Hela-S3	cervix:	n/a	chr2:37423964-37423974 chr2:37423996-37424014
18	TAF1	chr2:37423428-37423830	SK-N-SH	brain:	n/a	n/a
19	MAX	chr2:37423209-37424633	HepG2	liver:	n/a	n/a
20	EBF1	chr2:37423380-37423656	GM12878	blood:	n/a	n/a
21	TBP	chr2:37423412-37424283	K562	blood:	n/a	n/a
22	POLR2A	chr2:37423338-37424677	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr2:37423321-37424323	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr2:37422936-37425300	HepG2	liver:	n/a	n/a
25	POLR2A	chr2:37423339-37424520	HL-60	blood:	n/a	n/a
26	POLR2A	chr2:37423388-37424522	GM18505	blood:	n/a	n/a
27	FOS	chr2:37423478-37423678	MCF10A-Er-Src	breast:	n/a	n/a
28	CHD2	chr2:37423363-37424367	Hela-S3	cervix:	n/a	n/a
29	TBP	chr2:37423291-37424333	HepG2	liver:	n/a	n/a
30	BRCA1	chr2:37423384-37424244	Hela-S3	cervix:	n/a	n/a
31	MAX	chr2:37423376-37424385	HepG2	liver:	n/a	n/a
32	KAP1	chr2:37423353-37423948	U2OS	brain:	n/a	n/a
33	MTA3	chr2:37423188-37424785	GM12878	blood:	n/a	n/a
34	POLR2A	chr2:37423383-37424339	Gliobla	brain:	n/a	n/a
35	POLR2A	chr2:37423345-37424451	GM12878	blood:	n/a	n/a
36	MAZ	chr2:37423329-37424443	K562	blood:	n/a	n/a
37	TBP	chr2:37423316-37423866	Hela-S3	cervix:	n/a	n/a
38	MAZ	chr2:37423483-37424146	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr2:37423451-37423966	H1-neurons	neurons:	n/a	n/a
40	MXI1	chr2:37423362-37424535	GM12878	blood:	n/a	n/a
41	TAF1	chr2:37423464-37424190	HepG2	liver:	n/a	n/a
42	POLR2A	chr2:37423325-37424407	Raji	blood:	n/a	n/a
43	ELF1	chr2:37423455-37424439	GM12878	blood:	n/a	n/a
44	GATA3	chr2:37423244-37424514	A549	lung:	n/a	chr2:37424435-37424452 chr2:37424434-37424443
45	EGR1	chr2:37423390-37423750	K562	blood:	n/a	chr2:37423581-37423594 chr2:37423584-37423594 chr2:37423690-37423697 chr2:37423580-37423595 chr2:37423582-37423596 chr2:37423581-37423594 chr2:37423603-37423617
46	POLR2A	chr2:37423347-37424022	U87	brain:	n/a	n/a
47	FOXA1	chr2:37423250-37423979	HepG2	liver:	n/a	n/a
48	POLR2A	chr2:37423260-37424051	HCT-116	colon:	n/a	n/a
49	TAF1	chr2:37423413-37423894	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr2:37423459-37424301	HUVEC	blood vessel:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:37382658..37387385-chr2:37421093..37425812,6	MCF-7	breast:
2	chr2:37416928..37419854-chr2:37422137..37424726,5	K562	blood:
3	chr2:37420975..37425403-chr2:37457376..37460314,8	K562	blood:
4	chr2:37422039..37425278-chr2:37456815..37459935,9	MCF-7	breast:
5	chr2:37414854..37419854-chr2:37421416..37424726,5	K562	blood:
6	chr2:37423198..37425602-chr2:37457469..37460195,6	K562	blood:
7	chr2:37375443..37378209-chr2:37422439..37424991,2	MCF-7	breast:
8	chr2:37381640..37387428-chr2:37421417..37425727,6	MCF-7	breast:
9	chr2:37422594..37426591-chr2:37455893..37460210,5	MCF-7	breast:
10	chr2:37420171..37423121-chr2:37423446..37425110,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000233159	TF binding region
SULT6B1	TF binding region
CEBPZ-AS1	TF binding region
ENSG00000115816	Chromatin interaction
ENSG00000224891	Chromatin interaction
ENSG00000233159	Chromatin interaction
ENSG00000055332	Chromatin interaction
ENSG00000003509	Chromatin interaction
ENSG00000138068	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10182759	0.81[EUR][1000 genomes]
rs10209937	0.90[EUR][1000 genomes]
rs11124569	0.81[EUR][1000 genomes]
rs1137437	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1137453	0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12992047	0.92[ASN][1000 genomes]
rs12993090	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2268990	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2287093	0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3213745	0.87[EUR][1000 genomes]
rs3755195	0.86[EUR][1000 genomes]
rs4998429	0.81[EUR][1000 genomes]
rs7589296	0.85[EUR][1000 genomes]

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs10865123	CEBPZ	cis	Thyroid	GTEx
rs10865123	RP11-423P10.2	cis	Esophagus Mucosa	GTEx
rs10865123	CEBPZ	cis	Adipose Subcutaneous	GTEx
rs10865123	CEBPZ	cis	Esophagus Mucosa	GTEx
rs10865123	CEBPZ	cis	Esophagus Muscularis	GTEx
rs10865123	RP11-423P10.2	cis	Esophagus Muscularis	GTEx
rs10865123	CEBPZ	cis	Nerve Tibial	GTEx
rs10865123	PRKD3	cis	lung	GTEx
rs10865123	CEBPZ	cis	lung	GTEx
rs10865123	CEBPZ	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37418600-37427200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:37419200-37423600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:37419200-37423600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:37422600-37424400	Active TSS	Colon Smooth Muscle	Colon
5	chr2:37423000-37423600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr2:37423000-37423600	Flanking Active TSS	Dnd41	blood
7	chr2:37423000-37424000	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr2:37423000-37424200	Active TSS	Brain Angular Gyrus	brain
9	chr2:37423000-37424200	Active TSS	Brain Cingulate Gyrus	brain
10	chr2:37423000-37424600	Active TSS	Stomach Smooth Muscle	stomach
11	chr2:37423000-37424800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:37423000-37424800	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr2:37423000-37425400	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr2:37423200-37423600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr2:37423200-37423600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
16	chr2:37423200-37423600	Flanking Active TSS	Primary B cells from peripheral blood	blood
17	chr2:37423200-37423600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr2:37423200-37423600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr2:37423200-37423600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:37423200-37423600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr2:37423200-37423600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:37423200-37423600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr2:37423200-37423600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:37423200-37423600	Flanking Active TSS	Fetal Thymus	thymus
25	chr2:37423200-37423600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr2:37423200-37423600	Active TSS	Right Atrium	heart
27	chr2:37423200-37423600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr2:37423200-37423600	Flanking Active TSS	HMEC	breast
29	chr2:37423200-37423600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr2:37423200-37424000	Active TSS	Primary B cells from cord blood	blood
31	chr2:37423200-37424000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:37423200-37424000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:37423200-37424000	Active TSS	HUVEC	blood vessel
34	chr2:37423200-37424200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:37423200-37424200	Active TSS	Primary T cells from cord blood	blood
36	chr2:37423200-37424200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:37423200-37424200	Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr2:37423200-37424200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:37423200-37424200	Active TSS	Liver	Liver
40	chr2:37423200-37424200	Active TSS	Brain Hippocampus Middle	brain
41	chr2:37423200-37424200	Active TSS	Brain Substantia Nigra	brain
42	chr2:37423200-37424200	Active TSS	Colonic Mucosa	Colon
43	chr2:37423200-37424200	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr2:37423200-37424200	Active TSS	Fetal Brain Male	brain
45	chr2:37423200-37424200	Active TSS	Fetal Brain Female	brain
46	chr2:37423200-37424200	Active TSS	Placenta	Placenta
47	chr2:37423200-37424200	Active TSS	Left Ventricle	heart
48	chr2:37423200-37424200	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr2:37423200-37424200	Active TSS	Stomach Mucosa	stomach
50	chr2:37423200-37424200	Active TSS	K562	blood

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