Variant report

Variant	rs739793
Chromosome Location	chr11:62341683-62341684
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:391)
CpG islands
(count:0)
Chromatin interactive
region (count:43)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:391 , 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	NFYB	chr11:62341322-62341785	GM12878	blood:	n/a	chr11:62341575-62341590
2	UBTF	chr11:62341645-62342218	K562	blood:	n/a	n/a
3	CHD2	chr11:62341119-62341972	H1-hESC	embryonic stem cell:	n/a	n/a
4	NRF1	chr11:62341114-62341741	H1-hESC	embryonic stem cell:	n/a	chr11:62341531-62341542
5	BCL3	chr11:62340814-62342461	A549	lung:	n/a	n/a
6	TAF1	chr11:62340990-62341803	PFSK-1	brain:	n/a	n/a
7	NFIC	chr11:62341101-62341930	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr11:62340401-62342510	ECC-1	luminal epithelium:	n/a	n/a
9	TAF1	chr11:62340714-62342075	PFSK-1	brain:	n/a	n/a
10	FOXM1	chr11:62340936-62342196	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:62341535-62341896	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr11:62340970-62342664	HUVEC	blood vessel:	n/a	n/a
13	CEBPB	chr11:62341521-62342334	GM12878	blood:	n/a	n/a
14	USF2	chr11:62341483-62342342	GM12878	blood:	n/a	n/a
15	IRF1	chr11:62340546-62341862	K562	blood:	n/a	n/a
16	POLR2A	chr11:62340443-62343021	HL-60	blood:	n/a	n/a
17	MYC	chr11:62341076-62341838	MCF-7	breast:	n/a	n/a
18	POU2F2	chr11:62340965-62342153	GM12878	blood:	n/a	n/a
19	USF1	chr11:62341419-62341801	SK-N-SH_RA	brain:	n/a	n/a
20	TAF1	chr11:62340829-62341887	ECC-1	luminal epithelium:	n/a	n/a
21	MYC	chr11:62341572-62341758	MCF-7	breast:	n/a	n/a
22	POU2F2	chr11:62341497-62341870	GM12878	blood:	n/a	n/a
23	PBX3	chr11:62340987-62341948	SK-N-SH	brain:	n/a	n/a
24	HEY1	chr11:62340827-62342109	K562	blood:	n/a	n/a
25	TAF1	chr11:62340889-62341846	GM12891	blood:	n/a	n/a
26	ZBTB33	chr11:62341023-62342234	SK-N-SH	brain:	n/a	n/a
27	FOXA2	chr11:62341103-62341828	A549	lung:	n/a	n/a
28	POLR2A	chr11:62341020-62341969	SK-N-MC	brain:	n/a	n/a
29	MAZ	chr11:62341170-62341949	HepG2	liver:	n/a	n/a
30	MAX	chr11:62340983-62341891	HepG2	liver:	n/a	n/a
31	POLR2A	chr11:62338671-62343080	PFSK-1	brain:	n/a	n/a
32	ELF1	chr11:62341111-62341922	K562	blood:	n/a	n/a
33	SMARCB1	chr11:62340548-62342373	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr11:62340764-62342029	ECC-1	luminal epithelium:	n/a	n/a
35	MYC	chr11:62341632-62341911	HepG2	liver:	n/a	n/a
36	POLR2A	chr11:62341058-62342340	GM12892	blood:	n/a	n/a
37	TCF12	chr11:62341090-62341872	GM12878	blood:	n/a	n/a
38	FOXP2	chr11:62341267-62341712	SK-N-MC	brain:	n/a	n/a
39	RCOR1	chr11:62341086-62341837	HepG2	liver:	n/a	n/a
40	MAZ	chr11:62340815-62342428	GM12878	blood:	n/a	n/a
41	POLR2A	chr11:62340873-62342637	U87	brain:	n/a	n/a
42	MAX	chr11:62340538-62342179	A549	lung:	n/a	n/a
43	HCFC1	chr11:62341037-62342354	K562	blood:	n/a	n/a
44	SIN3AK20	chr11:62341561-62341817	HepG2	liver:	n/a	n/a
45	EP300	chr11:62341162-62341827	T-47D	breast:	n/a	n/a
46	MAX	chr11:62340995-62341909	SK-N-SH	brain:	n/a	n/a
47	UBTF	chr11:62341632-62342197	K562	blood:	n/a	n/a
48	YY1	chr11:62340866-62341982	GM12878	blood:	n/a	chr11:62341304-62341324 chr11:62341251-62341263
49	ZKSCAN1	chr11:62340958-62342005	Hela-S3	cervix:	n/a	n/a
50	ELF1	chr11:62341032-62341757	A549	lung:	n/a	n/a

No data

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62340405..62345110-chr11:62411071..62415747,8	MCF-7	breast:
2	chr11:62339974..62343757-chr11:62445815..62448618,4	MCF-7	breast:
3	chr11:62184987..62187644-chr11:62339947..62341962,2	K562	blood:
4	chr11:62339901..62342185-chr11:62647277..62648815,2	K562	blood:
5	chr11:62341180..62342086-chr16:68269978..68270664,2	Hela-S3	cervix:
6	chr11:62193708..62196596-chr11:62341420..62344056,2	MCF-7	breast:
7	chr11:62337874..62344185-chr11:62431132..62441783,22	K562	blood:
8	chr11:62337261..62342687-chr11:62431505..62437310,11	MCF-7	breast:
9	chr11:62339860..62342265-chr11:62412690..62415547,3	K562	blood:
10	chr11:62341648..62342230-chr16:68298415..68299166,2	Hela-S3	cervix:
11	chr11:62340082..62342927-chr11:62571331..62574393,3	K562	blood:
12	chr11:62340363..62343212-chr11:62365252..62369475,4	MCF-7	breast:
13	chr11:62339742..62342662-chr11:62648785..62650735,2	K562	blood:
14	chr11:62337877..62349012-chr11:62352905..62362829,37	MCF-7	breast:
15	chr11:62340910..62342684-chr11:62620301..62623051,2	MCF-7	breast:
16	chr11:62341571..62343456-chr11:62380691..62382479,2	MCF-7	breast:
17	chr11:62340268..62342795-chr11:62462070..62463887,2	K562	blood:
18	chr11:62339818..62342516-chr11:62622172..62625340,3	MCF-7	breast:
19	chr11:62339919..62342407-chr11:62445471..62448261,3	MCF-7	breast:
20	chr11:62340205..62342670-chr8:56985646..56988391,2	MCF-7	breast:
21	chr11:62340307..62342709-chr11:62472483..62475076,4	K562	blood:
22	chr11:62339984..62344096-chr11:62621681..62625316,4	K562	blood:
23	chr11:62337874..62344102-chr11:62431342..62435931,16	K562	blood:
24	chr11:62339835..62342410-chr11:62387935..62390909,2	MCF-7	breast:
25	chr11:62339758..62342411-chr11:62437279..62439132,3	MCF-7	breast:
26	chr11:62339744..62342905-chr11:62605830..62609337,5	K562	blood:
27	chr11:62338845..62342709-chr11:62471391..62474986,4	K562	blood:
28	chr11:62340724..62342513-chr11:62420089..62422291,2	K562	blood:
29	chr11:62339316..62344491-chr11:62604974..62610455,12	K562	blood:
30	chr11:62341240..62341757-chr4:53578544..53579130,2	NB4	blood:
31	chr11:62339404..62343149-chr11:62437801..62441524,6	MCF-7	breast:
32	chr11:62340137..62343961-chr11:62493759..62497514,6	K562	blood:
33	chr11:62340160..62343347-chr11:62607889..62609663,3	MCF-7	breast:
34	chr11:62338989..62347081-chr11:62430108..62436394,14	MCF-7	breast:
35	chr11:62338925..62342513-chr11:62419437..62422643,3	K562	blood:
36	chr11:62340137..62342125-chr11:62494438..62496286,2	K562	blood:
37	chr11:62339002..62343622-chr11:62418020..62422333,5	MCF-7	breast:
38	chr11:62341367..62343567-chr11:62607914..62609857,2	MCF-7	breast:
39	chr11:62340987..62342589-chr11:62554766..62557470,2	K562	blood:
40	chr11:62340353..62342589-chr11:62554766..62556486,2	K562	blood:
41	chr11:62339927..62342307-chr11:62572551..62574239,2	K562	blood:
42	chr11:62310701..62316525-chr11:62336307..62345701,21	MCF-7	breast:
43	chr11:62339644..62342553-chr17:59475690..59477574,2	MCF-7	breast:

No data

Variant related genes	Relation type
EEF1G	TF binding region
ENSG00000168003	Chromatin interaction
ENSG00000168000	Chromatin interaction
ENSG00000149021	Chromatin interaction
ENSG00000185085	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000253603	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000257058	Chromatin interaction
ENSG00000255446	Chromatin interaction
ENSG00000008988	Chromatin interaction
ENSG00000103067	Chromatin interaction
ENSG00000162191	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000149541	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000264585	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000124942	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000149489	Chromatin interaction
ENSG00000226950	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000103064	Chromatin interaction
ENSG00000238650	Chromatin interaction
ENSG00000162231	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000149480	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000089597	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000185475	Chromatin interaction
ENSG00000204922	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17157390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17157391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61745121	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7926862	1.00[AMR][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	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	nsv832180	chr11:62201605-62364828	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	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
5	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
6	nsv832182	chr11:62295575-62462848	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic 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	245 gene(s)	inside rSNPs	diseases
7	nsv825939	chr11:62326083-62410577	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
8	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
9	nsv555174	chr11:62334096-62496519	Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	243 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	chr11:62339600-62342600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:62339800-62342000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:62339800-62342000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:62340000-62342200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:62340000-62342600	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr11:62340000-62342600	Active TSS	Esophagus	oesophagus
7	chr11:62340000-62342800	Active TSS	H9 Cell Line	embryonic stem cell
8	chr11:62340000-62343000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr11:62340200-62341800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:62340200-62341800	Active TSS	GM12878-XiMat	blood
11	chr11:62340200-62341800	Active TSS	HMEC	breast
12	chr11:62340200-62342000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:62340200-62342000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:62340200-62342000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:62340200-62342000	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr11:62340200-62342200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:62340200-62342200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:62340200-62342200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:62340200-62342200	Active TSS	Left Ventricle	heart
20	chr11:62340200-62342200	Active TSS	Psoas Muscle	Psoas
21	chr11:62340200-62342200	Active TSS	Right Ventricle	heart
22	chr11:62340200-62342200	Active TSS	Stomach Mucosa	stomach
23	chr11:62340200-62342200	Active TSS	Osteobl	bone
24	chr11:62340200-62342400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr11:62340200-62342600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:62340200-62342600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:62340200-62342600	Active TSS	Right Atrium	heart
28	chr11:62340200-62342800	Active TSS	NHDF-Ad	bronchial
29	chr11:62340200-62343000	Active TSS	HSMMtube	muscle
30	chr11:62340400-62341800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:62340400-62341800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:62340400-62341800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:62340400-62341800	Active TSS	Fetal Brain Male	brain
34	chr11:62340400-62341800	Active TSS	Rectal Smooth Muscle	rectum
35	chr11:62340400-62341800	Active TSS	HUVEC	blood vessel
36	chr11:62340400-62342000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:62340400-62342000	Active TSS	NH-A	brain
38	chr11:62340400-62342200	Active TSS	H1 Cell Line	embryonic stem cell
39	chr11:62340400-62342200	Active TSS	Fetal Intestine Small	intestine
40	chr11:62340400-62342200	Active TSS	Fetal Stomach	stomach
41	chr11:62340400-62342200	Active TSS	Gastric	stomach
42	chr11:62340400-62342200	Active TSS	Lung	lung
43	chr11:62340400-62342200	Active TSS	Spleen	Spleen
44	chr11:62340400-62342200	Bivalent/Poised TSS	HepG2	liver
45	chr11:62340400-62342200	Active TSS	NHLF	lung
46	chr11:62340400-62342400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:62340400-62342400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:62340400-62342600	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr11:62340400-62342600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:62340400-62342600	Active TSS	Fetal Intestine Large	intestine

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