Variant report

Variant	rs13024532
Chromosome Location	chr2:20643848-20643849
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	STAT3	chr2:20643784-20644159	Hela-S3	cervix:	n/a	chr2:20644023-20644032 chr2:20644022-20644031 chr2:20644020-20644034 chr2:20644021-20644032
2	TEAD4	chr2:20642962-20643926	HepG2	liver:	n/a	n/a
3	EP300	chr2:20643804-20644163	Hela-S3	cervix:	n/a	chr2:20643938-20643948
4	CEBPB	chr2:20643777-20644141	Hela-S3	cervix:	n/a	n/a
5	FOXA2	chr2:20643298-20643889	A549	lung:	n/a	n/a
6	FOXA1	chr2:20643763-20644862	HepG2	liver:	n/a	n/a
7	MAX	chr2:20643775-20644031	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr2:20642586-20644240	A549	lung:	n/a	chr2:20643151-20643169 chr2:20643153-20643174 chr2:20643152-20643168
9	SMC3	chr2:20643733-20644049	Hela-S3	cervix:	n/a	n/a
10	RAD21	chr2:20643815-20644070	Hela-S3	cervix:	n/a	n/a
11	FOXA1	chr2:20643846-20644865	HepG2	liver:	n/a	n/a
12	STAT3	chr2:20643839-20644190	MCF10A-Er-Src	breast:	n/a	chr2:20644023-20644032 chr2:20644022-20644031 chr2:20644020-20644034 chr2:20644021-20644032
13	STAT3	chr2:20643784-20644430	MCF10A-Er-Src	breast:	n/a	chr2:20644023-20644032 chr2:20644022-20644031 chr2:20644020-20644034 chr2:20644021-20644032
14	MXI1	chr2:20643526-20644114	Hela-S3	cervix:	n/a	n/a
15	RFX5	chr2:20643815-20644544	Hela-S3	cervix:	n/a	n/a
16	MYC	chr2:20643793-20644387	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:20633992..20655025-chr2:20829429..20854651,127	MCF-7	breast:
2	chr2:20640108..20658716-chr2:20812153..20855311,258	MCF-7	breast:
3	chr2:20643643..20644246-chr2:20842049..20842698,2	MCF-7	breast:
4	chr2:20643596..20652981-chr2:20820571..20828990,20	MCF-7	breast:
5	chr2:20637684..20640674-chr2:20641308..20644150,4	MCF-7	breast:
6	chr2:20643137..20644982-chr2:20835031..20838121,3	K562	blood:
7	chr2:20643137..20644831-chr2:20835031..20837095,2	K562	blood:

Variant related genes	Relation type
RHOB	TF binding region
ENSG00000118960	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1062292	0.92[ASN][1000 genomes]
rs6715667	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv455830	chr2:20621404-20659862	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv581166	chr2:20621404-20659862	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
3	nsv873717	chr2:20625174-20756900	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv873718	chr2:20627875-20752152	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv873719	chr2:20628882-20756900	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
6	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13024532	AC023137.2	cis	Artery Tibial	GTEx

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20625000-20646000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:20630600-20644800	Weak transcription	Lung	lung
3	chr2:20632600-20644800	Weak transcription	Aorta	Aorta
4	chr2:20638400-20644400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:20638400-20644600	Weak transcription	Brain Angular Gyrus	brain
6	chr2:20638400-20644600	Weak transcription	Psoas Muscle	Psoas
7	chr2:20639400-20646000	Weak transcription	HSMMtube	muscle
8	chr2:20639600-20644400	Weak transcription	Left Ventricle	heart
9	chr2:20639600-20644400	Weak transcription	Pancreas	Pancrea
10	chr2:20639600-20644800	Weak transcription	Colonic Mucosa	Colon
11	chr2:20639600-20646000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:20639600-20646000	Weak transcription	Gastric	stomach
13	chr2:20639600-20646200	Weak transcription	HMEC	breast
14	chr2:20641600-20645000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:20642000-20644400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr2:20642000-20646200	Weak transcription	K562	blood
17	chr2:20642200-20644600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:20642600-20644000	Enhancers	Fetal Intestine Small	intestine
19	chr2:20642600-20644400	Enhancers	Hela-S3	cervix
20	chr2:20642600-20644600	Enhancers	Fetal Kidney	kidney
21	chr2:20642800-20644200	Enhancers	Stomach Mucosa	stomach
22	chr2:20643200-20644000	Enhancers	Placenta	Placenta
23	chr2:20643200-20644000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr2:20643200-20644000	Flanking Active TSS	HepG2	liver
25	chr2:20643200-20644400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:20643200-20644400	Enhancers	Adipose Nuclei	Adipose
27	chr2:20643200-20644600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:20643200-20644600	Enhancers	Rectal Smooth Muscle	rectum
29	chr2:20643200-20644600	Enhancers	HSMM	muscle
30	chr2:20643200-20644600	Enhancers	NHLF	lung
31	chr2:20643200-20644800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr2:20643200-20645000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr2:20643200-20645400	Enhancers	Brain Hippocampus Middle	brain
34	chr2:20643200-20646200	Enhancers	NHDF-Ad	bronchial
35	chr2:20643400-20644000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:20643400-20644000	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr2:20643400-20644000	Enhancers	Fetal Lung	lung
38	chr2:20643400-20644000	Enhancers	Fetal Muscle Trunk	muscle
39	chr2:20643400-20644000	Enhancers	Fetal Stomach	stomach
40	chr2:20643400-20644000	Enhancers	Ovary	ovary
41	chr2:20643400-20644000	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr2:20643400-20644000	Enhancers	Small Intestine	intestine
43	chr2:20643400-20644200	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr2:20643400-20645400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr2:20643400-20646000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:20643400-20646000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr2:20643400-20646000	Enhancers	Fetal Brain Male	brain
48	chr2:20643400-20646000	Enhancers	Fetal Muscle Leg	muscle
49	chr2:20643400-20646200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:20643600-20644000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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