Variant report

Variant	rs12290339
Chromosome Location	chr11:74461162-74461163
allele	A/G
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	MAX	chr11:74459506-74461354	NB4	blood:	n/a	chr11:74461107-74461117 chr11:74459869-74459879 chr11:74460730-74460740
2	USF2	chr11:74460524-74461186	Hela-S3	cervix:	n/a	n/a
3	KAP1	chr11:74460096-74461181	HEK293	kidney:	n/a	n/a
4	TBP	chr11:74460464-74461334	Hela-S3	cervix:	n/a	n/a
5	MXI1	chr11:74459410-74461437	GM12878	blood:	n/a	n/a
6	STAT1	chr11:74460403-74461201	GM12878	blood:	n/a	chr11:74460726-74460738
7	CHD1	chr11:74458748-74461199	IMR90	lung:	n/a	n/a
8	WRNIP1	chr11:74460599-74461574	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:74459495-74461521	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr11:74459356-74461523	GM12891	blood:	n/a	n/a
11	PRDM1	chr11:74461122-74461430	Hela-S3	cervix:	n/a	n/a
12	MXI1	chr11:74461162-74461386	Hela-S3	cervix:	n/a	n/a
13	MAX	chr11:74459683-74461413	Hela-S3	cervix:	n/a	chr11:74461107-74461117 chr11:74459869-74459879 chr11:74460730-74460740
14	MXI1	chr11:74459243-74461695	IMR90	lung:	n/a	n/a
15	MYC	chr11:74459726-74461205	Hela-S3	cervix:	n/a	chr11:74461107-74461117 chr11:74459869-74459879 chr11:74460730-74460740
16	POLR2A	chr11:74459163-74461238	HepG2	liver:	n/a	n/a
17	RFX5	chr11:74459385-74461250	IMR90	lung:	n/a	chr11:74459779-74459788 chr11:74459551-74459565

No.	Distal block	Cell Line	Cell type
1	chr11:74453289..74457790-chr11:74458093..74463010,5	K562	blood:
2	chr11:74453237..74458015-chr11:74458314..74461324,7	MCF-7	breast:
3	chr11:74459747..74461427-chr11:74574531..74576961,2	MCF-7	breast:
4	chr11:74459112..74461560-chr11:74659129..74661254,3	MCF-7	breast:
5	chr11:74442119..74444893-chr11:74459979..74461789,2	MCF-7	breast:
6	chr11:74415504..74417027-chr11:74459912..74462866,2	K562	blood:
7	chr11:74457724..74462703-chr11:74463031..74468958,12	K562	blood:
8	chr11:74459976..74461657-chr11:74515968..74518800,2	MCF-7	breast:
9	chr11:74446620..74450203-chr11:74457573..74461764,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227615	TF binding region
ENSG00000264095	Chromatin interaction
ENSG00000118363	Chromatin interaction
ENSG00000166435	Chromatin interaction
ENSG00000054938	Chromatin interaction
ENSG00000227615	Chromatin interaction
ENSG00000241097	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10160407	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10501418	1.00[CEU][hapmap]
rs11236224	1.00[ASN][1000 genomes]
rs11236229	1.00[ASN][1000 genomes]
rs11236239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11236247	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236249	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236259	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11501909	1.00[ASN][1000 genomes]
rs11501910	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12098929	0.83[AMR][1000 genomes]
rs12270712	1.00[ASN][1000 genomes]
rs12271211	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12272764	1.00[ASN][1000 genomes]
rs12274227	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275056	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12278314	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12283412	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12283768	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12284331	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12285302	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12286425	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12286482	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12287287	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12288052	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13343191	0.83[AMR][1000 genomes]
rs4133526	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56306513	1.00[ASN][1000 genomes]
rs57031821	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59481855	1.00[ASN][1000 genomes]
rs6592593	1.00[ASN][1000 genomes]
rs7109667	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7125078	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128783	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72991236	1.00[ASN][1000 genomes]
rs72991239	1.00[ASN][1000 genomes]
rs72991244	1.00[ASN][1000 genomes]
rs73490680	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73490691	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73492727	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73492743	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73492794	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73496929	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73496931	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7928010	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7947106	1.00[ASN][1000 genomes]
rs9943586	1.00[CEU][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv932190	chr11:74359867-74618935	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
7	esv1840811	chr11:74452658-74488369	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr11:74459200-74461400	Active TSS	Aorta	Aorta
2	chr11:74459200-74461600	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr11:74459200-74461600	Active TSS	Ovary	ovary
4	chr11:74459400-74461200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr11:74459400-74461200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:74459400-74461200	Active TSS	Fetal Muscle Trunk	muscle
7	chr11:74459400-74461200	Active TSS	Right Ventricle	heart
8	chr11:74459600-74461200	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr11:74459600-74461200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:74459600-74461200	Active TSS	Brain Germinal Matrix	brain
11	chr11:74459600-74461200	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr11:74459600-74461200	Active TSS	Colon Smooth Muscle	Colon
13	chr11:74459600-74461200	Active TSS	Left Ventricle	heart
14	chr11:74459600-74461200	Active TSS	GM12878-XiMat	blood
15	chr11:74459600-74461200	Active TSS	HSMMtube	muscle
16	chr11:74459600-74461400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:74459600-74461400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:74459600-74461400	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr11:74459600-74461400	Active TSS	Esophagus	oesophagus
20	chr11:74459600-74461400	Active TSS	Right Atrium	heart
21	chr11:74459600-74461400	Active TSS	HSMM	muscle
22	chr11:74459600-74461600	Active TSS	Psoas Muscle	Psoas
23	chr11:74459600-74462000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:74459800-74461200	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr11:74459800-74461200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:74459800-74461200	Active TSS	Gastric	stomach
27	chr11:74459800-74461200	Active TSS	A549	lung
28	chr11:74459800-74461400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:74459800-74461400	Active TSS	Muscle Satellite Cultured Cells	--
30	chr11:74459800-74461400	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr11:74459800-74461400	Active TSS	NHDF-Ad	bronchial
32	chr11:74459800-74461600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:74459800-74461600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:74460000-74462200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:74460200-74461600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:74460400-74461200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:74460400-74461200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr11:74460400-74461200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr11:74460400-74461200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:74460400-74461200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr11:74460400-74461200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:74460400-74461200	Flanking Active TSS	Pancreas	Pancrea
43	chr11:74460400-74461400	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr11:74460400-74461400	Flanking Active TSS	Fetal Thymus	thymus
45	chr11:74460400-74461600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr11:74460400-74461600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr11:74460400-74461600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:74460400-74461600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr11:74460400-74461800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr11:74460600-74461200	Flanking Active TSS	H1 Cell Line	embryonic stem cell

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