Variant report

Variant	rs61893950
Chromosome Location	chr11:72281411-72281412
allele	G/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	chr11:72280944-72283398	Hela-S3	cervix:	n/a	n/a
2	JUND	chr11:72280897-72281453	HCT-116	colon:	n/a	n/a
3	SMARCC1	chr11:72281105-72282994	Hela-S3	cervix:	n/a	n/a
4	TFAP2C	chr11:72281082-72282037	Hela-S3	cervix:	n/a	n/a
5	EP300	chr11:72280900-72281562	ECC-1	luminal epithelium:	n/a	n/a
6	TCF7L2	chr11:72280891-72282880	Hela-S3	cervix:	n/a	n/a
7	TAF1	chr11:72281122-72281835	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr11:72280891-72282777	Hela-S3	cervix:	n/a	n/a
9	TCF12	chr11:72281138-72281465	GM12878	blood:	n/a	n/a
10	JUND	chr11:72280904-72281959	Hela-S3	cervix:	n/a	n/a
11	SP1	chr11:72280873-72281516	HCT-116	colon:	n/a	n/a
12	MAFK	chr11:72280985-72281942	Hela-S3	cervix:	n/a	n/a
13	JUN	chr11:72280979-72281560	K562	blood:	n/a	n/a
14	POLR2A	chr11:72280944-72283152	Hela-S3	cervix:	n/a	n/a
15	RAD21	chr11:72280947-72281714	Hela-S3	cervix:	n/a	n/a
16	STAT3	chr11:72280901-72281886	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr11:72281021-72282118	MCF10A-Er-Src	breast:	n/a	n/a
18	SMC3	chr11:72280944-72283030	Hela-S3	cervix:	n/a	n/a
19	STAT3	chr11:72281260-72281455	MCF10A-Er-Src	breast:	n/a	n/a
20	RFX5	chr11:72280950-72281950	Hela-S3	cervix:	n/a	n/a
21	EP300	chr11:72280840-72281650	Hela-S3	cervix:	n/a	n/a
22	TAF1	chr11:72280890-72281886	Hela-S3	cervix:	n/a	n/a
23	FOS	chr11:72280968-72281658	Hela-S3	cervix:	n/a	n/a
24	MAX	chr11:72280988-72281614	Hela-S3	cervix:	n/a	n/a
25	TBP	chr11:72280884-72283053	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr11:72280907-72283068	Hela-S3	cervix:	n/a	n/a
27	TCF12	chr11:72280887-72281505	ECC-1	luminal epithelium:	n/a	n/a
28	STAT3	chr11:72281017-72281499	MCF10A-Er-Src	breast:	n/a	n/a
29	JUN	chr11:72280912-72281757	Hela-S3	cervix:	n/a	n/a
30	ELK1	chr11:72280988-72282695	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr11:72280813-72283612	Hela-S3	cervix:	n/a	n/a
32	RCOR1	chr11:72280901-72283021	Hela-S3	cervix:	n/a	n/a
33	GTF2F1	chr11:72280925-72283024	Hela-S3	cervix:	n/a	n/a
34	TCF12	chr11:72280841-72281519	ECC-1	luminal epithelium:	n/a	n/a
35	MAX	chr11:72280942-72283054	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr11:72280848-72288657	Hela-S3	cervix:	n/a	n/a
37	YY1	chr11:72281404-72281651	H1-hESC	embryonic stem cell:	n/a	chr11:72281541-72281563 chr11:72281539-72281558 chr11:72281544-72281552 chr11:72281540-72281552
38	CHD2	chr11:72280938-72282966	Hela-S3	cervix:	n/a	n/a
39	MAZ	chr11:72280982-72282975	Hela-S3	cervix:	n/a	n/a
40	FOSL1	chr11:72280858-72281464	HCT-116	colon:	n/a	n/a
41	YY1	chr11:72281374-72281647	A549	lung:	n/a	chr11:72281541-72281563 chr11:72281539-72281558 chr11:72281544-72281552 chr11:72281540-72281552
42	STAT3	chr11:72280936-72281412	MCF10A-Er-Src	breast:	n/a	n/a
43	YY1	chr11:72281301-72281710	H1-hESC	embryonic stem cell:	n/a	chr11:72281541-72281563 chr11:72281539-72281558 chr11:72281544-72281552 chr11:72281540-72281552
44	USF2	chr11:72280998-72283033	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr11:72280821-72283816	Hela-S3	cervix:	n/a	n/a
46	YY1	chr11:72281389-72281632	GM12878	blood:	n/a	chr11:72281541-72281563 chr11:72281539-72281558 chr11:72281544-72281552 chr11:72281540-72281552
47	FOS	chr11:72280990-72281477	MCF10A-Er-Src	breast:	n/a	n/a
48	ZKSCAN1	chr11:72280906-72281785	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:72281234..72282064-chr13:111364772..111365743,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000227467	TF binding region
ENSG00000134905	Chromatin interaction
ENSG00000153487	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12574163	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12576163	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12577155	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35412389	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs380126	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs433640	0.95[ASN][1000 genomes]
rs4944544	0.84[AMR][1000 genomes]
rs4944545	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61893930	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794740	chr11:72021720-72332931	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
2	nsv897910	chr11:72154529-72281884	Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
4	esv1832864	chr11:72270965-72389125	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
5	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72269600-72295200	Weak transcription	Right Atrium	heart
2	chr11:72273600-72282200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:72276400-72287800	Weak transcription	Fetal Brain Female	brain
4	chr11:72279200-72281600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:72279400-72282400	Enhancers	Placenta	Placenta
6	chr11:72279800-72282800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:72280000-72281600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:72280000-72281600	Enhancers	HSMM	muscle
9	chr11:72280000-72281600	Enhancers	NHDF-Ad	bronchial
10	chr11:72280000-72281800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:72280000-72282400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:72280000-72282600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:72280000-72283000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:72280000-72283000	Enhancers	HMEC	breast
15	chr11:72280000-72283200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:72280000-72283800	Enhancers	Placenta Amnion	Placenta Amnion
17	chr11:72280200-72281800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr11:72280200-72282000	Enhancers	Osteobl	bone
19	chr11:72280200-72282400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:72280200-72282400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:72280400-72282000	Enhancers	NH-A	brain
22	chr11:72280400-72282200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr11:72280400-72284600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:72280800-72281600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:72280800-72283000	Flanking Active TSS	Hela-S3	cervix
26	chr11:72281000-72281600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:72281000-72281600	Flanking Active TSS	NHEK	skin
28	chr11:72281000-72283200	Enhancers	Fetal Intestine Large	intestine
29	chr11:72281200-72281600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr11:72281200-72281600	Enhancers	HUVEC	blood vessel
31	chr11:72281200-72281800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:72281200-72281800	Enhancers	Fetal Intestine Small	intestine
33	chr11:72281200-72281800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr11:72281400-72281800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr11:72281400-72282200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr11:72281400-72287400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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