Variant report

Variant	rs73487820
Chromosome Location	chr11:62599362-62599363
allele	C/T
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	POLR2A	chr11:62598828-62600327	HepG2	liver:	n/a	n/a
2	EP300	chr11:62598962-62599524	HepG2	liver:	n/a	chr11:62599176-62599185
3	POLR2A	chr11:62598343-62603571	H1-hESC	embryonic stem cell:	n/a	n/a
4	GABPA	chr11:62598517-62600012	MCF-7	breast:	n/a	chr11:62598966-62598975
5	POLR2A	chr11:62598851-62600153	ECC-1	luminal epithelium:	n/a	n/a
6	FOS	chr11:62599301-62599847	HUVEC	blood vessel:	n/a	chr11:62599646-62599655
7	POLR2A	chr11:62598468-62600214	GM12878	blood:	n/a	n/a
8	CCNT2	chr11:62598946-62600318	K562	blood:	n/a	chr11:62599551-62599560
9	NFYB	chr11:62599021-62599839	Hela-S3	cervix:	n/a	chr11:62599645-62599659 chr11:62599268-62599282 chr11:62599648-62599660 chr11:62599647-62599657 chr11:62599644-62599659 chr11:62599269-62599284 chr11:62599644-62599659
10	SP1	chr11:62598566-62600176	HCT-116	colon:	n/a	chr11:62599184-62599198 chr11:62599670-62599682 chr11:62598791-62598800 chr11:62598787-62598796 chr11:62599637-62599658 chr11:62599699-62599713 chr11:62599671-62599681 chr11:62599550-62599560 chr11:62599338-62599352 chr11:62599672-62599681 chr11:62598786-62598795 chr11:62599702-62599714 chr11:62599671-62599680 chr11:62599671-62599680 chr11:62599670-62599682 chr11:62599672-62599685 chr11:62599551-62599560 chr11:62599191-62599200
11	SMC3	chr11:62599359-62599530	K562	blood:	n/a	n/a
12	EBF1	chr11:62598911-62599398	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:62598886-62600178	GM19193	blood:	n/a	n/a
14	ELF1	chr11:62598783-62599883	K562	blood:	n/a	chr11:62599715-62599724 chr11:62599174-62599185 chr11:62599711-62599723 chr11:62599298-62599310
15	POLR2A	chr11:62598913-62600309	MCF-7	breast:	n/a	n/a
16	ZKSCAN1	chr11:62599055-62600141	Hela-S3	cervix:	n/a	n/a
17	YY1	chr11:62598785-62599827	GM12878	blood:	n/a	chr11:62599142-62599151
18	MAX	chr11:62598704-62600359	SK-N-SH	brain:	n/a	chr11:62600226-62600235 chr11:62599344-62599354
19	FOXA2	chr11:62598929-62599448	A549	lung:	n/a	n/a
20	PML	chr11:62598749-62600259	K562	blood:	n/a	n/a
21	SIN3AK20	chr11:62598982-62599601	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr11:62599205-62600017	Gliobla	brain:	n/a	n/a
23	RELA	chr11:62598929-62599694	GM15510	blood:	n/a	n/a
24	POLR2A	chr11:62599049-62600661	K562	blood:	n/a	n/a
25	MAX	chr11:62598986-62600180	ECC-1	luminal epithelium:	n/a	chr11:62599344-62599354
26	TAF1	chr11:62598792-62599930	GM12878	blood:	n/a	n/a
27	EP300	chr11:62598957-62599893	K562	blood:	n/a	chr11:62599176-62599185
28	SP1	chr11:62599038-62599416	K562	blood:	n/a	chr11:62599184-62599198 chr11:62599338-62599352 chr11:62599191-62599200
29	HEY1	chr11:62598853-62599967	K562	blood:	n/a	chr11:62598955-62598970
30	POLR2A	chr11:62599200-62600177	PANC-1	pancreas:	n/a	n/a
31	POLR2A	chr11:62598895-62600003	GM18505	blood:	n/a	n/a
32	USF1	chr11:62599346-62599918	K562	blood:	n/a	n/a
33	FOS	chr11:62599084-62599406	Hela-S3	cervix:	n/a	n/a
34	RFX5	chr11:62599110-62599825	Hela-S3	cervix:	n/a	chr11:62599647-62599656
35	NFYB	chr11:62598953-62599818	K562	blood:	n/a	chr11:62599645-62599659 chr11:62599268-62599282 chr11:62599648-62599660 chr11:62599647-62599657 chr11:62599644-62599659 chr11:62599269-62599284 chr11:62599644-62599659
36	POLR2A	chr11:62598862-62600361	A549	lung:	n/a	n/a
37	TAF1	chr11:62598923-62599850	SK-N-SH	brain:	n/a	n/a
38	STAT5A	chr11:62598599-62600288	GM12878	blood:	n/a	chr11:62599179-62599186 chr11:62600076-62600088 chr11:62598787-62598799
39	TBL1XR1	chr11:62598934-62600170	K562	blood:	n/a	n/a
40	MAX	chr11:62598728-62600140	NB4	blood:	n/a	chr11:62599344-62599354
41	POLR2A	chr11:62598851-62600516	K562	blood:	n/a	n/a
42	SP2	chr11:62598730-62599779	HepG2	liver:	n/a	chr11:62599273-62599296 chr11:62599646-62599656 chr11:62599232-62599255
43	POLR2A	chr11:62599026-62600114	K562	blood:	n/a	n/a
44	SP1	chr11:62598600-62600047	H1-hESC	embryonic stem cell:	n/a	chr11:62599184-62599198 chr11:62599670-62599682 chr11:62598791-62598800 chr11:62598787-62598796 chr11:62599637-62599658 chr11:62599699-62599713 chr11:62599671-62599681 chr11:62599550-62599560 chr11:62599338-62599352 chr11:62599672-62599681 chr11:62598786-62598795 chr11:62599702-62599714 chr11:62599671-62599680 chr11:62599671-62599680 chr11:62599670-62599682 chr11:62599672-62599685 chr11:62599551-62599560 chr11:62599191-62599200
45	TAF1	chr11:62598894-62599986	MCF-7	breast:	n/a	n/a
46	PML	chr11:62599000-62600032	MCF-7	breast:	n/a	n/a
47	MAX	chr11:62598976-62600336	H1-hESC	embryonic stem cell:	n/a	chr11:62600226-62600235 chr11:62599344-62599354
48	SP1	chr11:62598647-62599921	K562	blood:	n/a	chr11:62599184-62599198 chr11:62599670-62599682 chr11:62598791-62598800 chr11:62598787-62598796 chr11:62599637-62599658 chr11:62599699-62599713 chr11:62599671-62599681 chr11:62599550-62599560 chr11:62599338-62599352 chr11:62599672-62599681 chr11:62598786-62598795 chr11:62599702-62599714 chr11:62599671-62599680 chr11:62599671-62599680 chr11:62599670-62599682 chr11:62599672-62599685 chr11:62599551-62599560 chr11:62599191-62599200
49	POLR2A	chr11:62598692-62600708	PFSK-1	brain:	n/a	n/a
50	CREB1	chr11:62599000-62600184	K562	blood:	n/a	chr11:62599529-62599542

No.	Distal block	Cell Line	Cell type
1	chr11:62599099..62599815-chr3:159481032..159481725,2	Hela-S3	cervix:
2	chr11:62529679..62531629-chr11:62598537..62601462,2	K562	blood:
3	chr11:62359071..62359645-chr11:62598699..62599534,2	Hela-S3	cervix:
4	chr11:62597102..62625754-chr11:62640222..62672995,305	MCF-7	breast:
5	chr11:62432395..62434637-chr11:62597123..62599690,2	K562	blood:
6	chr11:62596557..62612020-chr11:62639561..62665043,131	K562	blood:
7	chr11:62357294..62359712-chr11:62597660..62599535,2	MCF-7	breast:
8	chr11:62527533..62531903-chr11:62596696..62600047,4	MCF-7	breast:
9	chr11:62554227..62555139-chr11:62598616..62599614,2	MCF-7	breast:
10	chr11:62597650..62599373-chr6:58779077..58780591,2	MCF-7	breast:
11	chr11:62431735..62433800-chr11:62598522..62601051,2	MCF-7	breast:
12	chr11:62495370..62498171-chr11:62598161..62601338,3	K562	blood:
13	chr11:62491904..62497981-chr11:62597734..62601812,7	MCF-7	breast:
14	chr11:62599341..62599934-chr6:30711516..30712495,2	Hela-S3	cervix:
15	chr11:62598727..62599554-chr11:62608819..62610002,3	Hela-S3	cervix:
16	chr11:62472305..62474205-chr11:62598065..62600196,2	MCF-7	breast:
17	chr11:62599065..62599913-chr6:34759620..34760230,2	NB4	blood:
18	chr1:156630976..156631676-chr11:62598634..62599494,2	Hela-S3	cervix:
19	chr11:62538028..62540415-chr11:62597106..62600841,3	MCF-7	breast:
20	chr11:62519883..62522902-chr11:62598213..62600903,4	K562	blood:
21	chr11:62599152..62599822-chr19:42364246..42365008,2	Hela-S3	cervix:
22	chr11:62500516..62503067-chr11:62598730..62600732,2	MCF-7	breast:
23	chr11:62520927..62522865-chr11:62597731..62600568,2	MCF-7	breast:
24	chr11:62475707..62478819-chr11:62598237..62600033,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256690	TF binding region
ENSG00000255432	Chromatin interaction
ENSG00000267811	Chromatin interaction
ENSG00000105372	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000250588	Chromatin interaction
ENSG00000229953	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000185475	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000162227	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000168000	Chromatin interaction
ENSG00000168002	Chromatin interaction
ENSG00000185670	Chromatin interaction
ENSG00000065060	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000269176	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000133316	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11231220	1.00[AMR][1000 genomes]
rs11231261	0.86[AFR][1000 genomes]
rs12270342	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12288417	1.00[AMR][1000 genomes]
rs12290152	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12292281	1.00[AMR][1000 genomes]
rs12295052	1.00[AMR][1000 genomes]
rs12295516	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28400288	1.00[AMR][1000 genomes]
rs56994557	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58003814	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58505493	1.00[AMR][1000 genomes]
rs58792209	1.00[AMR][1000 genomes]
rs59143369	1.00[AMR][1000 genomes]
rs61088491	1.00[AMR][1000 genomes]
rs73483955	1.00[AMR][1000 genomes]
rs73483965	1.00[AMR][1000 genomes]
rs73483978	1.00[AMR][1000 genomes]
rs73485621	1.00[AMR][1000 genomes]
rs73485634	1.00[AMR][1000 genomes]
rs73485689	1.00[AMR][1000 genomes]
rs73487823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487824	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487852	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487868	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73502144	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
4	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
5	nsv897623	chr11:62438819-62603916	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	215 gene(s)	inside rSNPs	diseases
6	nsv508636	chr11:62547114-62644458	Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1195 gene(s)	inside rSNPs	diseases
7	nsv1051308	chr11:62564713-62673136	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 gene(s)	inside rSNPs	diseases
8	nsv541058	chr11:62564713-62673136	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 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	chr11:62597600-62600200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:62597600-62600400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:62597800-62600000	Active TSS	HMEC	breast
4	chr11:62598000-62600000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr11:62598000-62600000	Active TSS	Lung	lung
6	chr11:62598000-62600000	Active TSS	GM12878-XiMat	blood
7	chr11:62598000-62600200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:62598000-62600200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:62598000-62600200	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr11:62598000-62600400	Active TSS	H1 Cell Line	embryonic stem cell
11	chr11:62598000-62600400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr11:62598000-62600400	Active TSS	Left Ventricle	heart
13	chr11:62598000-62600400	Active TSS	Right Atrium	heart
14	chr11:62598000-62600600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr11:62598000-62600600	Active TSS	NHLF	lung
16	chr11:62598000-62601000	Active TSS	Pancreas	Pancrea
17	chr11:62598200-62600000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:62598200-62600000	Active TSS	Fetal Muscle Trunk	muscle
19	chr11:62598200-62600200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr11:62598200-62600200	Active TSS	NHDF-Ad	bronchial
21	chr11:62598200-62600400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:62598200-62600400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:62598200-62600400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:62598200-62600400	Active TSS	Muscle Satellite Cultured Cells	--
25	chr11:62598200-62600400	Active TSS	Aorta	Aorta
26	chr11:62598200-62600400	Active TSS	Fetal Kidney	kidney
27	chr11:62598200-62600400	Active TSS	Ovary	ovary
28	chr11:62598200-62600600	Active TSS	H9 Cell Line	embryonic stem cell
29	chr11:62598200-62600600	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr11:62598200-62600600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:62598200-62600600	Active TSS	Gastric	stomach
32	chr11:62598200-62600800	Active TSS	HSMMtube	muscle
33	chr11:62598400-62599800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:62598400-62599800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:62598400-62599800	Active TSS	Hela-S3	cervix
36	chr11:62598400-62600000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:62598400-62600000	Active TSS	Brain Angular Gyrus	brain
38	chr11:62598400-62600000	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr11:62598400-62600000	Active TSS	Colonic Mucosa	Colon
40	chr11:62598400-62600000	Active TSS	Fetal Intestine Small	intestine
41	chr11:62598400-62600000	Active TSS	Fetal Stomach	stomach
42	chr11:62598400-62600000	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr11:62598400-62600000	Active TSS	Rectal Smooth Muscle	rectum
44	chr11:62598400-62600000	Active TSS	NH-A	brain
45	chr11:62598400-62600000	Active TSS	NHEK	skin
46	chr11:62598400-62600200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:62598400-62600200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:62598400-62600200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:62598400-62600200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:62598400-62600200	Active TSS	Fetal Intestine Large	intestine

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