Variant report

Variant	rs73543620
Chromosome Location	chr11:71824115-71824116
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:351)
CpG islands
(count:61)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:351 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:71822603-71824498	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:71823669-71824165	Gliobla	brain:	n/a	n/a
3	RCOR1	chr11:71823000-71824582	K562	blood:	n/a	n/a
4	CREB1	chr11:71823250-71824382	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr11:71822870-71824488	H1-hESC	embryonic stem cell:	n/a	n/a
6	JUND	chr11:71823247-71824186	H1-hESC	embryonic stem cell:	n/a	chr11:71823555-71823564
7	POLR2A	chr11:71822648-71824589	K562	blood:	n/a	n/a
8	TCF7L2	chr11:71823160-71824160	Hela-S3	cervix:	n/a	n/a
9	TBP	chr11:71822687-71824390	Hela-S3	cervix:	n/a	n/a
10	GABPA	chr11:71823092-71824167	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr11:71822638-71824547	ProgFib	skin:	n/a	n/a
12	POLR2A	chr11:71822918-71824379	GM15510	blood:	n/a	n/a
13	POLR2A	chr11:71822004-71824821	GM12892	blood:	n/a	n/a
14	E2F6	chr11:71822957-71824203	H1-hESC	embryonic stem cell:	n/a	chr11:71823815-71823826 chr11:71823783-71823792 chr11:71823688-71823703 chr11:71823816-71823828 chr11:71823445-71823455
15	MAFK	chr11:71822632-71824183	Hela-S3	cervix:	n/a	n/a
16	CREB1	chr11:71823003-71824178	K562	blood:	n/a	n/a
17	TBL1XR1	chr11:71822867-71824412	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:71821894-71824788	GM12892	blood:	n/a	n/a
19	MYC	chr11:71822705-71824721	NB4	blood:	n/a	n/a
20	PAX5	chr11:71823633-71824170	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:71822414-71824888	PANC-1	pancreas:	n/a	n/a
22	POLR2A	chr11:71822588-71824612	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr11:71823519-71824158	HepG2	liver:	n/a	n/a
24	SIN3AK20	chr11:71823656-71824268	A549	lung:	n/a	n/a
25	MYC	chr11:71822898-71824231	Hela-S3	cervix:	n/a	n/a
26	USF2	chr11:71823045-71824365	Hela-S3	cervix:	n/a	chr11:71823708-71823724 chr11:71823190-71823206 chr11:71823700-71823716
27	BRCA1	chr11:71823066-71824476	Hela-S3	cervix:	n/a	chr11:71824425-71824432 chr11:71823376-71823383
28	TAF1	chr11:71823612-71824216	MCF-7	breast:	n/a	n/a
29	TAF1	chr11:71822972-71824237	ECC-1	luminal epithelium:	n/a	n/a
30	TAF1	chr11:71822754-71824175	H1-neurons	neurons:	n/a	n/a
31	MXI1	chr11:71822770-71824573	Hela-S3	cervix:	n/a	n/a
32	ETS1	chr11:71823051-71824256	A549	lung:	n/a	chr11:71823489-71823498 chr11:71823828-71823844 chr11:71823832-71823841 chr11:71823490-71823501 chr11:71823832-71823841 chr11:71823489-71823503 chr11:71823832-71823841 chr11:71823486-71823501 chr11:71823724-71823735 chr11:71823725-71823735 chr11:71823488-71823501 chr11:71823832-71823841
33	MAX	chr11:71822889-71824240	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr11:71822928-71824513	GM18526	blood:	n/a	n/a
35	RCOR1	chr11:71822369-71824146	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr11:71822329-71824375	GM12878	blood:	n/a	n/a
37	POLR2A	chr11:71822645-71824643	H1-hESC	embryonic stem cell:	n/a	n/a
38	REST	chr11:71823497-71824199	A549	lung:	n/a	chr11:71823942-71823956
39	MAX	chr11:71823062-71824238	H1-hESC	embryonic stem cell:	n/a	n/a
40	YY1	chr11:71823110-71824129	GM12878	blood:	n/a	chr11:71823813-71823824 chr11:71823588-71823604
41	TCF7L2	chr11:71823226-71824219	PANC-1	pancreas:	n/a	n/a
42	CHD2	chr11:71823085-71824434	GM12878	blood:	n/a	n/a
43	POLR2A	chr11:71823642-71824164	A549	lung:	n/a	n/a
44	POLR2A	chr11:71822850-71824182	GM10847	blood:	n/a	n/a
45	MTA3	chr11:71822263-71824835	GM12878	blood:	n/a	n/a
46	UBTF	chr11:71823431-71824305	K562	blood:	n/a	n/a
47	POLR2A	chr11:71822791-71824723	GM12878	blood:	n/a	n/a
48	RELA	chr11:71822768-71824502	GM12891	blood:	n/a	n/a
49	TBP	chr11:71823047-71824413	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr11:71822719-71824682	Raji	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:71824068-71824118	AoSMC	blood vessel:	n/a
2	chr11:71824068-71824118	NHDF-neo	bronchial:	n/a
3	chr11:71824068-71824118	ECC-1	luminal epithelium:	n/a
4	chr11:71824068-71824118	HAEpiC	amniotic membrane:	n/a
5	chr11:71824068-71824118	NB4	blood:	n/a
6	chr11:71824068-71824118	A549	lung:	n/a
7	chr11:71824068-71824118	GM12878	blood:	n/a
8	chr11:71824068-71824118	PANC-1	pancreas:	n/a
9	chr11:71824068-71824118	HPAEpiC	pulmonary alveolar:	n/a
10	chr11:71824068-71824118	IMR90	lung:	fetal
11	chr11:71824068-71824118	BE2_C	brain:	n/a
12	chr11:71824068-71824118	HepG2	liver:	n/a
13	chr11:71824068-71824118	K562	blood:	n/a
14	chr11:71824068-71824118	AG09309	skin:	n/a
15	chr11:71824068-71824118	HNPCEpiC	eye:	n/a
16	chr11:71824068-71824118	ovcar-3	ovarian:	n/a
17	chr11:71824068-71824118	HRE	kidney:	n/a
18	chr11:71824068-71824118	HCF	heart:	n/a
19	chr11:71824068-71824118	SAEC	small airway:	n/a
20	chr11:71824068-71824118	SK-N-SH	brain:	n/a
21	chr11:71824068-71824118	CMK	blood:	n/a
22	chr11:71824068-71824118	AG04450	lung:	fetal
23	chr11:71824068-71824118	AG10803	skin:	n/a
24	chr11:71824068-71824118	U87	brain:	n/a
25	chr11:71824068-71824118	AG04449	skin:	fetal
26	chr11:71824068-71824118	SK-N-SH_RA	brain:	n/a
27	chr11:71824068-71824118	NH-A	brain:	n/a
28	chr11:71824068-71824118	NHBE	bronchial:	n/a
29	chr11:71824068-71824118	BJ	skin:	n/a
30	chr11:71824068-71824118	Hela-S3	cervix:	n/a
31	chr11:71824068-71824118	HCPEpiC	choroid plexus:	n/a
32	chr11:71824068-71824118	GM19239	blood:	n/a
33	chr11:71824068-71824118	HIPEpiC	eye:	n/a
34	chr11:71824068-71824118	Caco-2	colon:	n/a
35	chr11:71824068-71824118	NT2-D1	testis:	n/a
36	chr11:71824068-71824118	LNCaP	prostate:	n/a
37	chr11:71824068-71824118	HCM	heart:	n/a
38	chr11:71824068-71824118	SK-N-MC	brain:	n/a
39	chr11:71824068-71824118	HL-60	blood:	n/a
40	chr11:71824068-71824118	SKMC	muscle:	n/a
41	chr11:71824068-71824118	MCF-7	breast:	n/a
42	chr11:71824068-71824118	PFSK-1	brain:	n/a
43	chr11:71824068-71824118	HRCEpiC	kidney:	n/a
44	chr11:71824068-71824118	H1-hESC	embryonic stem cell:	embryo
45	chr11:71824068-71824118	HEK293	kidney:	embryo
46	chr11:71824068-71824118	HUVEC	blood vessel:	n/a
47	chr11:71824068-71824118	Hepatocyte	liver:	n/a
48	chr11:71824068-71824118	T-47D	breast:	n/a
49	chr11:71824068-71824118	HEEpiC	esophagus:	n/a
50	chr11:71824068-71824118	GM12892	blood:	n/a

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:71638287..71640361-chr11:71821333..71824174,2	MCF-7	breast:
2	chr11:71822074..71824400-chr11:71947784..71949539,2	K562	blood:
3	chr11:71791731..71794694-chr11:71822498..71824725,2	MCF-7	breast:
4	chr11:71780985..71784804-chr11:71822969..71825529,4	K562	blood:
5	chr11:71823473..71824353-chr17:56708653..56709308,2	Hela-S3	cervix:
6	chr11:71823538..71824144-chr4:4861008..4861827,2	NB4	blood:
7	chr11:71749313..71752204-chr11:71820647..71824475,4	MCF-7	breast:
8	chr11:71821560..71824482-chr11:71933153..71936536,4	MCF-7	breast:
9	chr11:71722105..71724138-chr11:71823048..71824784,2	K562	blood:
10	chr11:71823466..71824264-chr18:21166408..21166925,2	NB4	blood:
11	chr11:71823607..71824181-chr13:111367373..111368069,2	NB4	blood:
12	chr11:71823629..71824351-chr7:156741973..156742865,2	Hela-S3	cervix:
13	chr11:71823336..71825069-chr11:71869762..71871942,2	K562	blood:
14	chr11:71735248..71738213-chr11:71822405..71824486,2	MCF-7	breast:
15	chr11:71823458..71824149-chr13:52026625..52027625,2	NB4	blood:
16	chr11:71778482..71780847-chr11:71823918..71825568,2	MCF-7	breast:
17	chr11:71823287..71824181-chr20:54967188..54968178,2	NB4	blood:
18	chr11:71749172..71754555-chr11:71820034..71825981,11	MCF-7	breast:
19	chr11:71789330..71791508-chr11:71823256..71824800,2	MCF-7	breast:
20	chr11:71822104..71825137-chr11:71839409..71842719,3	K562	blood:
21	chr11:71813597..71814444-chr11:71822928..71824140,3	Hela-S3	cervix:
22	chr11:71821479..71826547-chr11:71844956..71851162,6	K562	blood:
23	chr11:71823591..71824486-chr2:74346899..74347812,2	Hela-S3	cervix:
24	chr11:71822132..71825937-chr11:71933388..71938158,5	MCF-7	breast:
25	chr11:71822594..71824677-chr11:71937330..71938993,2	MCF-7	breast:
26	chr11:71823487..71825907-chr11:71932451..71935590,3	K562	blood:

No data

Variant related genes	Relation type
FOLR3	TF binding region
ANAPC15	TF binding region
ANAPC15	CpG island
FOLR3	CpG island
ENSG00000212089	Chromatin interaction
ENSG00000146909	Chromatin interaction
ENSG00000236778	Chromatin interaction
ENSG00000263742	Chromatin interaction
ENSG00000110203	Chromatin interaction
ENSG00000254469	Chromatin interaction
ENSG00000141458	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000163132	Chromatin interaction
ENSG00000101138	Chromatin interaction
ENSG00000087586	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000257800	Chromatin interaction
ENSG00000149357	Chromatin interaction
ENSG00000165458	Chromatin interaction
ENSG00000137522	Chromatin interaction
ENSG00000102786	Chromatin interaction
ENSG00000257075	Chromatin interaction
ENSG00000184154	Chromatin interaction
ENSG00000256518	Chromatin interaction
ENSG00000153487	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs36029905	0.89[AFR][1000 genomes]
rs55649541	1.00[AMR][1000 genomes]
rs57438678	0.89[AFR][1000 genomes]
rs57920810	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57956403	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60163837	0.89[AFR][1000 genomes]
rs60828158	1.00[AMR][1000 genomes]
rs61740471	1.00[AMR][1000 genomes]
rs7123665	1.00[AMR][1000 genomes]
rs73527747	1.00[AMR][1000 genomes]
rs73527765	1.00[AMR][1000 genomes]
rs73533756	0.89[AFR][1000 genomes]
rs73533759	1.00[AFR][1000 genomes]
rs73533760	0.95[AFR][1000 genomes]
rs73533784	0.95[AFR][1000 genomes]
rs73533798	0.89[AFR][1000 genomes]
rs73537512	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73537523	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73539517	0.89[AFR][1000 genomes]
rs73543608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73543646	0.95[AFR][1000 genomes];1.00[AMR][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	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71822600-71824200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:71822600-71824200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:71822600-71824200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:71822600-71824200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:71822600-71824200	Active TSS	Psoas Muscle	Psoas
6	chr11:71822600-71824200	Active TSS	Right Ventricle	heart
7	chr11:71822600-71824400	Active TSS	H1 Cell Line	embryonic stem cell
8	chr11:71822600-71824400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:71822800-71824200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:71822800-71824200	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr11:71822800-71824200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:71822800-71824200	Active TSS	Esophagus	oesophagus
13	chr11:71822800-71824200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr11:71822800-71824200	Active TSS	Fetal Muscle Trunk	muscle
15	chr11:71822800-71824200	Active TSS	Left Ventricle	heart
16	chr11:71822800-71824200	Active TSS	Ovary	ovary
17	chr11:71822800-71824400	Active TSS	H9 Cell Line	embryonic stem cell
18	chr11:71823000-71824200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:71823000-71824200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:71823000-71824200	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr11:71823000-71824200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:71823000-71824200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:71823000-71824200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:71823000-71824200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:71823000-71824200	Active TSS	Brain Anterior Caudate	brain
26	chr11:71823000-71824200	Active TSS	Brain Cingulate Gyrus	brain
27	chr11:71823000-71824200	Active TSS	Brain Germinal Matrix	brain
28	chr11:71823000-71824200	Active TSS	Colonic Mucosa	Colon
29	chr11:71823000-71824200	Active TSS	Colon Smooth Muscle	Colon
30	chr11:71823000-71824200	Active TSS	Fetal Intestine Large	intestine
31	chr11:71823000-71824200	Active TSS	Pancreas	Pancrea
32	chr11:71823000-71824200	Active TSS	Small Intestine	intestine
33	chr11:71823000-71824400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:71823000-71824400	Active TSS	Aorta	Aorta
35	chr11:71823000-71824400	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr11:71823000-71824800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:71823200-71824200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr11:71823200-71824200	Active TSS	Duodenum Mucosa	Duodenum
39	chr11:71823200-71824200	Active TSS	Stomach Mucosa	stomach
40	chr11:71823200-71824400	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr11:71823400-71824200	Active TSS	Primary T cells from cord blood	blood
42	chr11:71823800-71824200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:71823800-71824200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr11:71823800-71824200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
45	chr11:71823800-71824200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr11:71823800-71824400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:71823800-71824400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:71823800-71824400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr11:71823800-71824400	Flanking Active TSS	NH-A	brain
50	chr11:71823800-71824400	Flanking Active TSS	NHLF	lung

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