Variant report

Variant	rs73926530
Chromosome Location	chr2:46844544-46844545
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:255)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:255 , 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	TBP	chr2:46843959-46844590	GM12878	blood:	n/a	n/a
2	RUNX3	chr2:46843553-46844696	GM12878	blood:	n/a	n/a
3	RCOR1	chr2:46843797-46844575	GM12878	blood:	n/a	n/a
4	ELF1	chr2:46843937-46844566	K562	blood:	n/a	chr2:46844307-46844316 chr2:46844306-46844317 chr2:46844327-46844338
5	POLR2A	chr2:46843898-46844590	GM12891	blood:	n/a	n/a
6	POLR2A	chr2:46843144-46844840	K562	blood:	n/a	n/a
7	POLR2A	chr2:46843610-46844725	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr2:46843058-46844635	GM12878	blood:	n/a	n/a
9	E2F6	chr2:46843437-46844700	A549	lung:	n/a	chr2:46844187-46844196 chr2:46844117-46844129
10	MAX	chr2:46843392-46844617	ECC-1	luminal epithelium:	n/a	chr2:46844180-46844189
11	TBP	chr2:46843348-46844655	HepG2	liver:	n/a	n/a
12	IRF1	chr2:46843846-46844587	K562	blood:	n/a	n/a
13	CREB1	chr2:46843226-46844707	HepG2	liver:	n/a	n/a
14	POLR2A	chr2:46843825-46844574	H1-hESC	embryonic stem cell:	n/a	n/a
15	ZNF143	chr2:46843877-46844550	H1-hESC	embryonic stem cell:	n/a	n/a
16	ETS1	chr2:46843903-46844621	GM12878	blood:	n/a	chr2:46844308-46844317 chr2:46844308-46844317 chr2:46844308-46844317 chr2:46844308-46844317 chr2:46844308-46844317 chr2:46844306-46844315 chr2:46844329-46844340 chr2:46844308-46844319 chr2:46844309-46844319 chr2:46844304-46844320 chr2:46844309-46844320
17	POLR2A	chr2:46843137-46845416	MCF10A-Er-Src	breast:	n/a	n/a
18	NFIC	chr2:46843230-46844610	HepG2	liver:	n/a	n/a
19	TAF1	chr2:46843482-46844664	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr2:46843767-46844688	K562	blood:	n/a	n/a
21	POLR2A	chr2:46843430-46844657	ProgFib	skin:	n/a	n/a
22	POLR2A	chr2:46843609-46844701	MCF-7	breast:	n/a	n/a
23	STAT1	chr2:46843719-46844572	GM12878	blood:	n/a	n/a
24	POLR2A	chr2:46843913-46844717	HepG2	liver:	n/a	n/a
25	PBX3	chr2:46843577-46844619	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr2:46843494-46844585	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr2:46843596-46844624	Gliobla	brain:	n/a	n/a
28	MAX	chr2:46843037-46844575	K562	blood:	n/a	chr2:46844180-46844189
29	POLR2A	chr2:46843654-46844686	GM12878	blood:	n/a	n/a
30	POLR2A	chr2:46843195-46844642	A549	lung:	n/a	n/a
31	TCF12	chr2:46843548-46844625	ECC-1	luminal epithelium:	n/a	n/a
32	BCLAF1	chr2:46843552-46844656	GM12878	blood:	n/a	chr2:46844308-46844317
33	MAX	chr2:46843501-46844546	H1-hESC	embryonic stem cell:	n/a	chr2:46844180-46844189
34	MAX	chr2:46843544-46844598	Hela-S3	cervix:	n/a	chr2:46844180-46844189
35	MAX	chr2:46843652-46844722	MCF-7	breast:	n/a	chr2:46844180-46844189
36	RAD21	chr2:46843960-46844563	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr2:46843223-46844594	K562	blood:	n/a	n/a
38	POLR2A	chr2:46843467-46844558	HepG2	liver:	n/a	n/a
39	POLR2A	chr2:46843563-46844576	HepG2	liver:	n/a	n/a
40	TEAD4	chr2:46843864-46844575	K562	blood:	n/a	n/a
41	NFIC	chr2:46843328-46844636	HepG2	liver:	n/a	n/a
42	POLR2A	chr2:46843167-46844594	K562	blood:	n/a	n/a
43	POLR2A	chr2:46843402-46844621	HL-60	blood:	n/a	n/a
44	POLR2A	chr2:46843500-46844604	Hela-S3	cervix:	n/a	n/a
45	HDAC2	chr2:46843596-46844580	HepG2	liver:	n/a	n/a
46	MAX	chr2:46842957-46844718	A549	lung:	n/a	chr2:46844180-46844189
47	POLR2A	chr2:46843583-46844618	GM12878	blood:	n/a	n/a
48	POLR2A	chr2:46842800-46844614	HepG2	liver:	n/a	n/a
49	MXI1	chr2:46842494-46845378	SK-N-SH	brain:	n/a	n/a
50	REST	chr2:46843734-46844617	A549	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:46844529-46844579	GM12892	blood:	n/a
2	chr2:46844529-46844579	HNPCEpiC	eye:	n/a
3	chr2:46844529-46844579	ECC-1	luminal epithelium:	n/a
4	chr2:46844529-46844579	ProgFib	skin:	n/a
5	chr2:46844529-46844579	HCM	heart:	n/a
6	chr2:46844529-46844579	A549	lung:	n/a
7	chr2:46844529-46844579	MCF10A-Er-Src	breast:	n/a
8	chr2:46844529-46844579	HAEpiC	amniotic membrane:	n/a
9	chr2:46844529-46844579	HepG2	liver:	n/a
10	chr2:46844529-46844579	HPAEpiC	pulmonary alveolar:	n/a
11	chr2:46844529-46844579	BE2_C	brain:	n/a
12	chr2:46844529-46844579	NT2-D1	testis:	n/a
13	chr2:46844529-46844579	SK-N-MC	brain:	n/a
14	chr2:46844529-46844579	U87	brain:	n/a
15	chr2:46844529-46844579	NHBE	bronchial:	n/a
16	chr2:46844529-46844579	PFSK-1	brain:	n/a
17	chr2:46844529-46844579	PANC-1	pancreas:	n/a
18	chr2:46844529-46844579	HRCEpiC	kidney:	n/a
19	chr2:46844529-46844579	RPTEC	kidney:	n/a
20	chr2:46844529-46844579	GM19239	blood:	n/a
21	chr2:46844529-46844579	PrEC	prostate:	n/a
22	chr2:46844529-46844579	HMEC	breast:	n/a
23	chr2:46844529-46844579	LNCaP	prostate:	n/a
24	chr2:46844529-46844579	AG09319	gingival:	n/a
25	chr2:46844529-46844579	AG04450	lung:	fetal
26	chr2:46844529-46844579	SAEC	small airway:	n/a
27	chr2:46844529-46844579	HEK293	kidney:	embryo
28	chr2:46844529-46844579	CMK	blood:	n/a
29	chr2:46844529-46844579	IMR90	lung:	fetal
30	chr2:46844529-46844579	HEEpiC	esophagus:	n/a
31	chr2:46844529-46844579	HCPEpiC	choroid plexus:	n/a
32	chr2:46844529-46844579	AoSMC	blood vessel:	n/a
33	chr2:46844529-46844579	Hepatocyte	liver:	n/a
34	chr2:46844529-46844579	SK-N-SH	brain:	n/a
35	chr2:46844529-46844579	T-47D	breast:	n/a
36	chr2:46844529-46844579	HRPEpiC	eye:	n/a
37	chr2:46844529-46844579	HCT-116	colon:	n/a
38	chr2:46844529-46844579	Jurkat	blood:	n/a
39	chr2:46844529-46844579	K562	blood:	n/a
40	chr2:46844529-46844579	HCF	heart:	n/a
41	chr2:46844529-46844579	SKMC	muscle:	n/a
42	chr2:46844529-46844579	AG04449	skin:	fetal
43	chr2:46844529-46844579	HL-60	blood:	n/a
44	chr2:46844529-46844579	HRE	kidney:	n/a
45	chr2:46844529-46844579	GM12891	blood:	n/a
46	chr2:46844529-46844579	HIPEpiC	eye:	n/a
47	chr2:46844529-46844579	Hela-S3	cervix:	n/a
48	chr2:46844529-46844579	GM06990	blood:	n/a
49	chr2:46844529-46844579	AG09309	skin:	n/a
50	chr2:46844529-46844579	Caco-2	colon:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:4612398..4613899-chr2:46843451..46845435,2	MCF-7	breast:
2	chr2:46843954..46844890-chr2:113033115..113033650,2	HCT-116	colon:
3	chr2:46768345..46771564-chr2:46842518..46844841,5	MCF-7	breast:
4	chr2:46768098..46772914-chr2:46841294..46848059,11	K562	blood:
5	chr2:46843200..46845178-chr2:47140240..47142665,2	MCF-7	breast:
6	chr2:46844525..46846523-chr2:46850500..46852298,2	MCF-7	breast:
7	chr2:46843777..46844732-chr5:90676364..90676897,2	Hela-S3	cervix:
8	chr2:46844343..46845232-chr3:52719605..52720531,2	NB4	blood:
9	chr2:46806489..46808552-chr2:46842875..46845193,2	MCF-7	breast:
10	chr2:46768338..46773881-chr2:46842376..46848059,6	K562	blood:
11	chr1:151371851..151372388-chr2:46843826..46844603,2	HCT-116	colon:
12	chr2:46838843..46841805-chr2:46843233..46844922,3	MCF-7	breast:
13	chr2:46745227..46747707-chr2:46842896..46845007,2	K562	blood:
14	chr2:46788951..46790463-chr2:46844313..46846805,2	K562	blood:

No data

Variant related genes	Relation type
PIGF	TF binding region
PIGF	CpG island
ENSG00000151665	Chromatin interaction
ENSG00000113369	Chromatin interaction
ENSG00000141480	Chromatin interaction
ENSG00000188177	Chromatin interaction
ENSG00000180398	Chromatin interaction
ENSG00000119729	Chromatin interaction
ENSG00000163939	Chromatin interaction
ENSG00000250565	Chromatin interaction
ENSG00000250116	Chromatin interaction
ENSG00000163938	Chromatin interaction
ENSG00000159377	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs56127212	0.83[AFR][1000 genomes]
rs60085835	1.00[AFR][1000 genomes]
rs60088761	1.00[AFR][1000 genomes]
rs73926516	0.83[AFR][1000 genomes]
rs73926519	0.83[AFR][1000 genomes]
rs73926524	0.83[AFR][1000 genomes]
rs73926525	1.00[AFR][1000 genomes]
rs73926526	0.83[AFR][1000 genomes]
rs73926527	1.00[AFR][1000 genomes]
rs73926528	0.86[AFR][1000 genomes]
rs73926531	1.00[AFR][1000 genomes]
rs73926532	1.00[AFR][1000 genomes]
rs73926533	1.00[AFR][1000 genomes]
rs73926534	0.83[AFR][1000 genomes]
rs73926535	1.00[AFR][1000 genomes]
rs73926536	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1009735	chr2:46724523-46913152	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv533112	chr2:46800828-46959977	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
9	nsv873997	chr2:46821640-46984627	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46842600-46845000	Active TSS	Fetal Intestine Large	intestine
2	chr2:46842600-46845400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr2:46842600-46845600	Active TSS	Aorta	Aorta
4	chr2:46842800-46844600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:46842800-46844800	Active TSS	Duodenum Mucosa	Duodenum
6	chr2:46842800-46844800	Active TSS	Fetal Brain Female	brain
7	chr2:46842800-46845000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr2:46842800-46845000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:46842800-46845000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr2:46842800-46845200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr2:46842800-46845200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:46842800-46845400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr2:46842800-46845400	Active TSS	Right Atrium	heart
14	chr2:46843000-46844600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr2:46843000-46844800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:46843000-46844800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:46843000-46844800	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr2:46843000-46844800	Active TSS	Brain Angular Gyrus	brain
19	chr2:46843000-46844800	Active TSS	Brain Cingulate Gyrus	brain
20	chr2:46843000-46844800	Active TSS	Brain Hippocampus Middle	brain
21	chr2:46843000-46844800	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr2:46843000-46844800	Active TSS	Pancreas	Pancrea
23	chr2:46843000-46845000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:46843000-46845000	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr2:46843000-46845000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:46843000-46845000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:46843000-46845000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:46843000-46845000	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr2:46843000-46845000	Active TSS	Fetal Kidney	kidney
30	chr2:46843000-46845000	Active TSS	Fetal Stomach	stomach
31	chr2:46843000-46845000	Active TSS	Right Ventricle	heart
32	chr2:46843000-46845000	Active TSS	NHDF-Ad	bronchial
33	chr2:46843000-46845200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:46843000-46845200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:46843000-46845200	Active TSS	Fetal Intestine Small	intestine
36	chr2:46843000-46845200	Active TSS	GM12878-XiMat	blood
37	chr2:46843000-46845400	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr2:46843000-46845400	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr2:46843000-46845400	Active TSS	Psoas Muscle	Psoas
40	chr2:46843000-46845400	Active TSS	K562	blood
41	chr2:46843000-46845600	Active TSS	H1 Cell Line	embryonic stem cell
42	chr2:46843000-46845600	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr2:46843200-46844800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:46843200-46844800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:46843200-46844800	Active TSS	Esophagus	oesophagus
46	chr2:46843200-46844800	Active TSS	Gastric	stomach
47	chr2:46843200-46844800	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr2:46843200-46844800	Active TSS	Stomach Mucosa	stomach
49	chr2:46843200-46844800	Active TSS	A549	lung
50	chr2:46843200-46845000	Active TSS	Left Ventricle	heart

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