Variant report

Variant	rs10746023
Chromosome Location	chr12:105723988-105723989
allele	A/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	SP1	chr12:105723987-105724576	GM12878	blood:	n/a	chr12:105724190-105724199 chr12:105724283-105724293 chr12:105724282-105724294 chr12:105724283-105724293 chr12:105724369-105724383 chr12:105724325-105724336 chr12:105724185-105724198 chr12:105724282-105724294
2	MXI1	chr12:105723677-105726002	IMR90	lung:	n/a	chr12:105724251-105724260
3	POLR2A	chr12:105723741-105725429	GM18526	blood:	n/a	n/a
4	MAX	chr12:105723778-105725315	A549	lung:	n/a	n/a
5	SP1	chr12:105723620-105724637	A549	lung:	n/a	chr12:105724190-105724199 chr12:105724283-105724293 chr12:105724282-105724294 chr12:105724283-105724293 chr12:105724369-105724383 chr12:105724325-105724336 chr12:105724185-105724198 chr12:105724282-105724294
6	POLR2A	chr12:105723940-105724728	Raji	blood:	n/a	n/a
7	POLR2A	chr12:105723919-105724691	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr12:105723811-105724806	NB4	blood:	n/a	n/a
9	TFAP2A	chr12:105723882-105724597	Hela-S3	cervix:	n/a	chr12:105724307-105724315 chr12:105724307-105724315 chr12:105724306-105724314 chr12:105724306-105724314 chr12:105724306-105724314 chr12:105724301-105724316 chr12:105724307-105724315
10	SIN3AK20	chr12:105723950-105724704	SK-N-SH	brain:	n/a	n/a
11	MAZ	chr12:105723971-105724662	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:105723957-105724829	GM18505	blood:	n/a	n/a
13	SP1	chr12:105723892-105724731	HCT-116	colon:	n/a	chr12:105724190-105724199 chr12:105724283-105724293 chr12:105724282-105724294 chr12:105724283-105724293 chr12:105724369-105724383 chr12:105724325-105724336 chr12:105724185-105724198 chr12:105724282-105724294
14	E2F4	chr12:105722454-105724531	MCF10A-Er-Src	breast:	n/a	n/a
15	MAZ	chr12:105723746-105725701	IMR90	lung:	n/a	n/a
16	NFYB	chr12:105723935-105724587	GM12878	blood:	n/a	n/a
17	PML	chr12:105723772-105724752	GM12878	blood:	n/a	n/a
18	FOXM1	chr12:105723882-105724374	GM12878	blood:	n/a	n/a
19	MAX	chr12:105723718-105725297	NB4	blood:	n/a	n/a
20	MAX	chr12:105723720-105726217	A549	lung:	n/a	n/a
21	POLR2A	chr12:105723786-105725397	GM15510	blood:	n/a	n/a
22	POLR2A	chr12:105723805-105726031	GM19099	blood:	n/a	n/a
23	POLR2A	chr12:105723860-105724715	GM12892	blood:	n/a	n/a
24	MAX	chr12:105723964-105724444	MCF-7	breast:	n/a	n/a
25	SPI1	chr12:105723956-105724407	HL-60	blood:	n/a	chr12:105724195-105724208 chr12:105724168-105724175
26	GABPA	chr12:105723944-105724670	SK-N-SH	brain:	n/a	n/a
27	MTA3	chr12:105723766-105724385	GM12878	blood:	n/a	n/a
28	WRNIP1	chr12:105723968-105724150	GM12878	blood:	n/a	n/a
29	EBF1	chr12:105723986-105724548	GM12878	blood:	n/a	n/a
30	ZBTB7A	chr12:105723962-105725353	ECC-1	luminal epithelium:	n/a	chr12:105724287-105724294
31	TFAP2C	chr12:105723893-105724625	Hela-S3	cervix:	n/a	chr12:105724301-105724316
32	SIN3A	chr12:105723756-105724597	H1-hESC	embryonic stem cell:	n/a	n/a
33	RUNX3	chr12:105723931-105724683	GM12878	blood:	n/a	n/a
34	SP1	chr12:105723887-105724612	A549	lung:	n/a	chr12:105724190-105724199 chr12:105724283-105724293 chr12:105724282-105724294 chr12:105724283-105724293 chr12:105724369-105724383 chr12:105724325-105724336 chr12:105724185-105724198 chr12:105724282-105724294
35	RELA	chr12:105723873-105724512	GM19099	blood:	n/a	n/a
36	POLR2A	chr12:105723788-105725234	GM19193	blood:	n/a	n/a
37	POLR2A	chr12:105723784-105725389	GM18951	blood:	n/a	n/a
38	SPI1	chr12:105723928-105724265	GM12891	blood:	n/a	chr12:105724195-105724208 chr12:105724168-105724175
39	MAX	chr12:105723959-105724720	SK-N-SH	brain:	n/a	n/a
40	RELA	chr12:105723829-105724580	GM18951	blood:	n/a	n/a
41	MYC	chr12:105723627-105725271	NB4	blood:	n/a	n/a
42	ZBTB7A	chr12:105723859-105725309	ECC-1	luminal epithelium:	n/a	chr12:105724287-105724294
43	RUNX3	chr12:105723921-105725300	GM12878	blood:	n/a	n/a
44	RELA	chr12:105723775-105724636	GM15510	blood:	n/a	n/a
45	E2F6	chr12:105723890-105724468	A549	lung:	n/a	n/a
46	CHD2	chr12:105723913-105724614	GM12878	blood:	n/a	n/a
47	GATA3	chr12:105723655-105724594	A549	lung:	n/a	chr12:105723708-105723716
48	SIN3A	chr12:105723884-105724687	GM12878	blood:	n/a	n/a
49	SP1	chr12:105723925-105724664	HCT-116	colon:	n/a	chr12:105724190-105724199 chr12:105724283-105724293 chr12:105724282-105724294 chr12:105724283-105724293 chr12:105724369-105724383 chr12:105724325-105724336 chr12:105724185-105724198 chr12:105724282-105724294

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105720223..105722150-chr12:105723159..105726102,2	MCF-7	breast:
2	chr12:105628750..105631438-chr12:105722608..105725285,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264749	TF binding region
C12orf75	TF binding region
ENSG00000257642	TF binding region
ENSG00000136044	Chromatin interaction
ENSG00000257642	Chromatin interaction
ENSG00000235162	Chromatin interaction
ENSG00000264749	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11112472	0.81[AFR][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	nsv510589	chr12:105670071-105743755	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10746023	HEPACAM	trans	parietal	SCAN

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105713400-105724000	Weak transcription	Pancreas	Pancrea
2	chr12:105714600-105724000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:105719000-105724000	Weak transcription	Thymus	Thymus
4	chr12:105722000-105724200	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr12:105723600-105724000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:105723600-105724200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:105723600-105724800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:105723800-105724000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr12:105723800-105724000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:105723800-105724000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
11	chr12:105723800-105724000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
12	chr12:105723800-105724000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
13	chr12:105723800-105724000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:105723800-105724000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:105723800-105724000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr12:105723800-105724000	Enhancers	Primary T cells from cord blood	blood
17	chr12:105723800-105724000	Enhancers	Primary hematopoietic stem cells	blood
18	chr12:105723800-105724000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:105723800-105724000	Enhancers	Liver	Liver
20	chr12:105723800-105724000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr12:105723800-105724000	Enhancers	Fetal Intestine Large	intestine
22	chr12:105723800-105724000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr12:105723800-105724000	Enhancers	Fetal Muscle Trunk	muscle
24	chr12:105723800-105724000	Enhancers	Fetal Muscle Leg	muscle
25	chr12:105723800-105724000	Enhancers	Placenta	Placenta
26	chr12:105723800-105724000	Enhancers	Fetal Stomach	stomach
27	chr12:105723800-105724000	Enhancers	Fetal Thymus	thymus
28	chr12:105723800-105724000	Enhancers	Gastric	stomach
29	chr12:105723800-105724000	Enhancers	Psoas Muscle	Psoas
30	chr12:105723800-105724000	Active TSS	Right Atrium	heart
31	chr12:105723800-105724000	Enhancers	Right Ventricle	heart
32	chr12:105723800-105724000	Enhancers	Stomach Mucosa	stomach
33	chr12:105723800-105724000	Enhancers	HSMMtube	muscle
34	chr12:105723800-105724200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr12:105723800-105724200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
36	chr12:105723800-105724200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:105723800-105724200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
38	chr12:105723800-105724200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
39	chr12:105723800-105724200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
40	chr12:105723800-105724200	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:105723800-105724200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:105723800-105724200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:105723800-105724200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:105723800-105724200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr12:105723800-105724200	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr12:105723800-105724200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:105723800-105724200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr12:105723800-105724200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr12:105723800-105724200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr12:105723800-105724200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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