Variant report

Variant	rs58792209
Chromosome Location	chr11:62496545-62496546
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:107)
CpG islands
(count:0)
Chromatin interactive
region (count:56)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:107 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFATC1	chr11:62494620-62496566	GM12878	blood:	n/a	n/a
2	BRCA1	chr11:62494672-62496775	Hela-S3	cervix:	n/a	n/a
3	TAF1	chr11:62493873-62496557	ECC-1	luminal epithelium:	n/a	n/a
4	ELF1	chr11:62493914-62496572	GM12878	blood:	n/a	chr11:62494774-62494786 chr11:62495691-62495702
5	GTF3C2	chr11:62495080-62496701	Hela-S3	cervix:	n/a	n/a
6	MAFK	chr11:62494495-62496810	Hela-S3	cervix:	n/a	chr11:62496629-62496643 chr11:62496631-62496642 chr11:62496630-62496641 chr11:62496631-62496642 chr11:62496630-62496641
7	CHD2	chr11:62493795-62496611	Hela-S3	cervix:	n/a	n/a
8	SIN3AK20	chr11:62495449-62496598	K562	blood:	n/a	n/a
9	POLR2A	chr11:62493469-62496686	SK-N-MC	brain:	n/a	n/a
10	ZKSCAN1	chr11:62493051-62496633	Hela-S3	cervix:	n/a	n/a
11	MAZ	chr11:62493790-62496688	IMR90	lung:	n/a	chr11:62495135-62495145
12	POLR2A	chr11:62494360-62496605	GM12891	blood:	n/a	n/a
13	SPI1	chr11:62495672-62496627	HL-60	blood:	n/a	chr11:62495716-62495729
14	RFX5	chr11:62494179-62496836	SK-N-SH	brain:	n/a	n/a
15	CEBPB	chr11:62492956-62496614	Hela-S3	cervix:	n/a	chr11:62495595-62495612 chr11:62495597-62495608 chr11:62493020-62493033
16	POLR2A	chr11:62493875-62496609	U87	brain:	n/a	n/a
17	POLR2A	chr11:62494271-62496599	GM12892	blood:	n/a	n/a
18	WRNIP1	chr11:62495131-62496641	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:62493578-62496616	Hela-S3	cervix:	n/a	n/a
20	MAX	chr11:62495396-62496554	SK-N-SH	brain:	n/a	n/a
21	GABPA	chr11:62494702-62496646	A549	lung:	n/a	chr11:62494912-62494921 chr11:62494994-62495008 chr11:62494914-62494923 chr11:62494738-62494752
22	RUNX3	chr11:62494236-62496645	GM12878	blood:	n/a	n/a
23	MTA3	chr11:62494301-62496697	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:62493762-62496586	K562	blood:	n/a	n/a
25	POLR2A	chr11:62493234-62496631	HepG2	liver:	n/a	n/a
26	POLR2A	chr11:62493910-62496609	U87	brain:	n/a	n/a
27	POLR2A	chr11:62494431-62496690	PFSK-1	brain:	n/a	n/a
28	TCF12	chr11:62493518-62496682	A549	lung:	n/a	n/a
29	SIN3A	chr11:62495571-62496559	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:62493877-62496607	ECC-1	luminal epithelium:	n/a	n/a
31	RUNX3	chr11:62494334-62496611	GM12878	blood:	n/a	n/a
32	HCFC1	chr11:62491528-62497135	Hela-S3	cervix:	n/a	n/a
33	PML	chr11:62494566-62496593	K562	blood:	n/a	n/a
34	MAX	chr11:62493646-62496591	A549	lung:	n/a	chr11:62495135-62495145
35	POLR2A	chr11:62494313-62496560	HL-60	blood:	n/a	n/a
36	POLR2A	chr11:62493892-62496723	PFSK-1	brain:	n/a	n/a
37	SMARCC2	chr11:62495076-62496556	Hela-S3	cervix:	n/a	n/a
38	SIN3AK20	chr11:62493743-62496674	PANC-1	pancreas:	n/a	n/a
39	MAX	chr11:62495515-62496565	SK-N-SH	brain:	n/a	n/a
40	ZNF384	chr11:62494439-62496591	K562	blood:	n/a	n/a
41	POLR2A	chr11:62494056-62496835	PANC-1	pancreas:	n/a	n/a
42	ZNF384	chr11:62496533-62496733	GM12878	blood:	n/a	n/a
43	MAX	chr11:62494458-62496569	NB4	blood:	n/a	chr11:62495135-62495145
44	MAX	chr11:62494682-62496614	Hela-S3	cervix:	n/a	chr11:62495135-62495145
45	REST	chr11:62493515-62496900	H1-neurons	neurons:	n/a	chr11:62494019-62494032 chr11:62494863-62494873 chr11:62494022-62494035 chr11:62495654-62495667
46	SIN3AK20	chr11:62493796-62496703	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr11:62493761-62496650	GM12892	blood:	n/a	n/a
48	POLR2A	chr11:62494178-62496625	H1-neurons	neurons:	n/a	n/a
49	GABPA	chr11:62495350-62496585	HL-60	blood:	n/a	n/a
50	MXI1	chr11:62492150-62497591	SK-N-SH	brain:	n/a	n/a

No data

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:62412098..62414534-chr11:62491927..62496781,5	K562	blood:
2	chr11:62419246..62422035-chr11:62495091..62497518,2	MCF-7	breast:
3	chr11:62491589..62497348-chr11:62553332..62556416,10	K562	blood:
4	chr11:62371312..62376313-chr11:62493293..62497173,4	MCF-7	breast:
5	chr11:62357079..62360474-chr11:62493562..62497187,4	MCF-7	breast:
6	chr11:62493487..62501439-chr11:62552997..62556820,17	MCF-7	breast:
7	chr11:62492351..62496994-chr11:62525479..62531629,8	MCF-7	breast:
8	chr11:62495282..62497475-chr11:62618208..62621113,2	K562	blood:
9	chr11:62492872..62497892-chr11:62536194..62540986,8	K562	blood:
10	chr11:62429368..62441438-chr11:62488512..62498189,36	K562	blood:
11	chr11:62492410..62497148-chr11:62620379..62625675,11	K562	blood:
12	chr11:62445202..62448329-chr11:62494290..62496840,3	MCF-7	breast:
13	chr11:62489679..62493629-chr11:62495825..62497896,4	K562	blood:
14	chr11:62495454..62497939-chr6:30709047..30710768,2	MCF-7	breast:
15	chr11:62495370..62498171-chr11:62598161..62601338,3	K562	blood:
16	chr11:62430955..62435240-chr11:62493417..62497695,13	K562	blood:
17	chr11:62445290..62447027-chr11:62493519..62496962,3	K562	blood:
18	chr11:62487366..62497836-chr11:62605953..62610629,27	K562	blood:
19	chr11:62492410..62497430-chr11:62621392..62625675,11	K562	blood:
20	chr11:62494468..62499240-chr11:62571375..62574199,8	MCF-7	breast:
21	chr11:62492343..62497215-chr11:62619514..62625025,15	MCF-7	breast:
22	chr11:62493462..62498807-chr11:62519015..62523330,14	K562	blood:
23	chr11:62412098..62414534-chr11:62492500..62497433,5	K562	blood:
24	chr11:62489834..62499984-chr11:62527523..62534733,19	MCF-7	breast:
25	chr11:62365667..62370630-chr11:62493549..62497299,5	MCF-7	breast:
26	chr11:62495188..62497370-chr11:62571398..62573670,2	K562	blood:
27	chr11:62491904..62497981-chr11:62597734..62601812,7	MCF-7	breast:
28	chr11:62413230..62414969-chr11:62494927..62497757,2	MCF-7	breast:
29	chr11:62487017..62500577-chr11:62602457..62611761,54	MCF-7	breast:
30	chr11:62492964..62497505-chr11:62605703..62612812,19	K562	blood:
31	chr11:62492430..62497674-chr11:62536203..62540726,8	MCF-7	breast:
32	chr11:62340137..62343961-chr11:62493759..62497514,6	K562	blood:
33	chr11:62431330..62441336-chr11:62489515..62497875,29	MCF-7	breast:
34	chr11:62495631..62497659-chr16:3069567..3072067,2	MCF-7	breast:
35	chr11:62431689..62434905-chr11:62493467..62497648,6	MCF-7	breast:
36	chr11:62493351..62498967-chr11:62525383..62529651,6	K562	blood:
37	chr11:62493384..62497236-chr11:62520063..62523255,11	K562	blood:
38	chr11:62356516..62363396-chr11:62492172..62497480,8	K562	blood:
39	chr11:62491993..62498335-chr11:62552883..62557132,13	MCF-7	breast:
40	chr11:62492683..62497467-chr11:62646838..62651892,11	MCF-7	breast:
41	chr11:62494172..62498821-chr11:62557548..62561455,7	MCF-7	breast:
42	chr11:62388230..62390666-chr11:62495086..62497404,2	MCF-7	breast:
43	chr11:62377536..62380529-chr11:62493370..62497128,3	K562	blood:
44	chr11:62495639..62497524-chr11:62621803..62623307,2	MCF-7	breast:
45	chr11:62491539..62497784-chr11:62516835..62523459,19	MCF-7	breast:
46	chr11:62492996..62496945-chr11:62646247..62651278,7	K562	blood:
47	chr11:62492464..62497553-chr11:62519802..62523353,13	MCF-7	breast:
48	chr11:62492872..62497117-chr11:62536194..62540986,7	K562	blood:
49	chr11:62494848..62497527-chr11:62648333..62651909,3	K562	blood:
50	chr11:62387137..62391370-chr11:62493569..62497557,4	MCF-7	breast:

No data

Variant related genes	Relation type
HNRNPUL2	TF binding region
HNRNPUL2-BSCL2	TF binding region
ENSG00000254772	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000269176	Chromatin interaction
ENSG00000149480	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000256690	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000204922	Chromatin interaction
ENSG00000267811	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000149489	Chromatin interaction
ENSG00000162191	Chromatin interaction
ENSG00000006327	Chromatin interaction
ENSG00000185085	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000185670	Chromatin interaction
ENSG00000149541	Chromatin interaction
ENSG00000168569	Chromatin interaction
ENSG00000254964	Chromatin interaction
ENSG00000089597	Chromatin interaction
ENSG00000149499	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000162236	Chromatin interaction
ENSG00000185475	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000184697	Chromatin interaction
ENSG00000162231	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000168002	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000162227	Chromatin interaction
ENSG00000255508	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11231123	1.00[EUR][1000 genomes]
rs11231220	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11828907	1.00[EUR][1000 genomes]
rs12270342	1.00[AMR][1000 genomes]
rs12288417	1.00[AMR][1000 genomes]
rs12290152	1.00[AMR][1000 genomes]
rs12292281	1.00[AMR][1000 genomes]
rs12295052	1.00[AMR][1000 genomes]
rs12295516	1.00[AMR][1000 genomes]
rs17157352	1.00[EUR][1000 genomes]
rs28400288	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34320415	1.00[EUR][1000 genomes]
rs3888584	1.00[EUR][1000 genomes]
rs41346047	1.00[EUR][1000 genomes]
rs41427449	1.00[EUR][1000 genomes]
rs56994557	1.00[AMR][1000 genomes]
rs57799986	1.00[EUR][1000 genomes]
rs58003814	1.00[AMR][1000 genomes]
rs58505493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59143369	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61088491	1.00[AMR][1000 genomes]
rs73483955	1.00[AMR][1000 genomes]
rs73483965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73483978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73485621	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73485634	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73485689	1.00[AMR][1000 genomes]
rs73487820	1.00[AMR][1000 genomes]
rs73487823	1.00[AMR][1000 genomes]
rs73487824	1.00[AMR][1000 genomes]
rs73487852	1.00[AMR][1000 genomes]
rs73487868	1.00[AMR][1000 genomes]
rs73500265	1.00[EUR][1000 genomes]
rs73500293	1.00[EUR][1000 genomes]
rs73502105	1.00[EUR][1000 genomes]
rs73502120	1.00[EUR][1000 genomes]
rs73502144	1.00[AMR][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	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	nsv348	chr11:62474450-62519712	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 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	chr11:62491800-62497200	Active TSS	HSMMtube	muscle
2	chr11:62491800-62497400	Active TSS	Fetal Kidney	kidney
3	chr11:62491800-62497600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:62492000-62497000	Active TSS	Aorta	Aorta
5	chr11:62492000-62497000	Active TSS	Ovary	ovary
6	chr11:62492000-62497200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:62492000-62497200	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr11:62492000-62497200	Active TSS	Fetal Intestine Small	intestine
9	chr11:62492000-62497200	Active TSS	Left Ventricle	heart
10	chr11:62492000-62497400	Active TSS	Psoas Muscle	Psoas
11	chr11:62492000-62497400	Active TSS	Right Ventricle	heart
12	chr11:62492000-62497400	Active TSS	HSMM	muscle
13	chr11:62492000-62497600	Active TSS	Fetal Intestine Large	intestine
14	chr11:62492000-62497800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:62492200-62497200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:62492200-62497400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr11:62492200-62497600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:62492200-62497800	Active TSS	NHDF-Ad	bronchial
19	chr11:62492400-62496800	Active TSS	Lung	lung
20	chr11:62492400-62497200	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr11:62492400-62497200	Active TSS	Colonic Mucosa	Colon
22	chr11:62492400-62497400	Active TSS	Esophagus	oesophagus
23	chr11:62492600-62496800	Active TSS	H1 Cell Line	embryonic stem cell
24	chr11:62492600-62496800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:62492600-62496800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:62492600-62497200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:62492600-62497200	Active TSS	Placenta	Placenta
28	chr11:62492600-62497200	Active TSS	Fetal Stomach	stomach
29	chr11:62492600-62497200	Active TSS	Pancreas	Pancrea
30	chr11:62492600-62497400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:62492600-62497400	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr11:62492600-62497400	Active TSS	NHEK	skin
33	chr11:62492600-62497400	Active TSS	Osteobl	bone
34	chr11:62492600-62497600	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr11:62492600-62497800	Active TSS	NH-A	brain
36	chr11:62492600-62497800	Active TSS	NHLF	lung
37	chr11:62492800-62496600	Bivalent/Poised TSS	HepG2	liver
38	chr11:62492800-62496800	Active TSS	H9 Cell Line	embryonic stem cell
39	chr11:62492800-62496800	Active TSS	Placenta Amnion	Placenta Amnion
40	chr11:62492800-62497200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:62492800-62497200	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr11:62492800-62497200	Active TSS	Small Intestine	intestine
43	chr11:62492800-62497400	Active TSS	Gastric	stomach
44	chr11:62493000-62496600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:62493000-62496800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr11:62493200-62496600	Active TSS	Stomach Mucosa	stomach
47	chr11:62493200-62496800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:62493200-62496800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:62493400-62497200	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr11:62493400-62497200	Active TSS	Duodenum Smooth Muscle	Duodenum

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