Variant report

Variant	rs61895077
Chromosome Location	chr11:47448547-47448548
allele	C/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	RCOR1	chr11:47447615-47448630	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:47447125-47448610	GM12892	blood:	n/a	n/a
3	HCFC1	chr11:47445853-47449989	Hela-S3	cervix:	n/a	n/a
4	YY1	chr11:47447394-47448569	SK-N-SH	brain:	n/a	chr11:47448119-47448128 chr11:47448028-47448037
5	MYC	chr11:47448362-47448633	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:47447559-47448935	HepG2	liver:	n/a	n/a
7	KAP1	chr11:47447732-47449045	HEK293	kidney:	n/a	chr11:47447903-47447911
8	BCL3	chr11:47447901-47448587	A549	lung:	n/a	n/a
9	ATF3	chr11:47447741-47448575	A549	lung:	n/a	chr11:47448119-47448128 chr11:47448028-47448037
10	GABPA	chr11:47447338-47448757	MCF-7	breast:	n/a	chr11:47448119-47448128 chr11:47448028-47448037
11	SP1	chr11:47447437-47448645	HCT-116	colon:	n/a	chr11:47448028-47448037 chr11:47448026-47448038 chr11:47448118-47448130 chr11:47448120-47448129 chr11:47448119-47448128 chr11:47448027-47448037 chr11:47448120-47448129 chr11:47447621-47447635 chr11:47448115-47448129 chr11:47448027-47448036 chr11:47448026-47448038 chr11:47448027-47448036 chr11:47448119-47448129 chr11:47448118-47448130 chr11:47448119-47448129 chr11:47448027-47448037
12	MAX	chr11:47447561-47448747	SK-N-SH	brain:	n/a	n/a
13	MYBL2	chr11:47447619-47448604	HepG2	liver:	n/a	n/a
14	USF1	chr11:47448306-47448580	A549	lung:	n/a	n/a
15	SIN3AK20	chr11:47447942-47448591	PFSK-1	brain:	n/a	n/a
16	USF1	chr11:47448292-47448597	A549	lung:	n/a	n/a
17	STAT3	chr11:47447989-47448628	MCF10A-Er-Src	breast:	n/a	n/a
18	HEY1	chr11:47447464-47448982	HepG2	liver:	n/a	n/a
19	SIN3AK20	chr11:47447906-47448610	PANC-1	pancreas:	n/a	n/a
20	TCF12	chr11:47447511-47448605	ECC-1	luminal epithelium:	n/a	chr11:47447736-47447746
21	MAX	chr11:47447470-47448755	A549	lung:	n/a	n/a
22	USF1	chr11:47447590-47448736	ECC-1	luminal epithelium:	n/a	n/a
23	ETS1	chr11:47447442-47448718	A549	lung:	n/a	chr11:47447716-47447729 chr11:47448028-47448039 chr11:47448140-47448149 chr11:47448183-47448196 chr11:47448139-47448148
24	KAP1	chr11:47447702-47448603	U2OS	brain:	n/a	chr11:47447903-47447911
25	YY1	chr11:47448237-47448559	A549	lung:	n/a	n/a
26	MAX	chr11:47447497-47448722	SK-N-SH	brain:	n/a	n/a
27	EP300	chr11:47446834-47448738	SK-N-SH	brain:	n/a	chr11:47447714-47447723
28	POLR2A	chr11:47447459-47448615	PANC-1	pancreas:	n/a	n/a
29	SIN3AK20	chr11:47448022-47448575	A549	lung:	n/a	n/a
30	MAX	chr11:47447477-47448774	HepG2	liver:	n/a	n/a
31	POLR2A	chr11:47447548-47449438	HepG2	liver:	n/a	n/a
32	USF1	chr11:47447867-47448591	SK-N-SH_RA	brain:	n/a	n/a
33	GABPA	chr11:47447638-47448596	Hela-S3	cervix:	n/a	chr11:47448119-47448128 chr11:47448028-47448037
34	SIX5	chr11:47447588-47448582	A549	lung:	n/a	chr11:47448183-47448192 chr11:47448185-47448194 chr11:47448182-47448196
35	SIN3AK20	chr11:47447851-47448577	PFSK-1	brain:	n/a	n/a
36	MAX	chr11:47447550-47448752	MCF-7	breast:	n/a	n/a
37	MAX	chr11:47447458-47448743	ECC-1	luminal epithelium:	n/a	n/a
38	RFX5	chr11:47447583-47448558	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr11:47448489-47448867	Hela-S3	cervix:	n/a	n/a
40	ZNF143	chr11:47447653-47448708	Hela-S3	cervix:	n/a	chr11:47448176-47448194 chr11:47447718-47447736 chr11:47448185-47448194 chr11:47448183-47448192
41	MAX	chr11:47447392-47448812	HCT-116	colon:	n/a	n/a
42	TBP	chr11:47447554-47448876	HepG2	liver:	n/a	n/a
43	GABPA	chr11:47447496-47448564	HL-60	blood:	n/a	chr11:47448119-47448128 chr11:47448028-47448037
44	CBX3	chr11:47447556-47448574	K562	blood:	n/a	n/a
45	USF2	chr11:47448396-47448596	HepG2	liver:	n/a	n/a
46	USF1	chr11:47447732-47448607	A549	lung:	n/a	n/a
47	STAT3	chr11:47447994-47448635	MCF10A-Er-Src	breast:	n/a	n/a
48	GABPA	chr11:47447534-47448599	SK-N-SH	brain:	n/a	chr11:47448119-47448128 chr11:47448028-47448037
49	MYC	chr11:47447799-47448649	MCF10A-Er-Src	breast:	n/a	n/a
50	MAX	chr11:47447351-47449081	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:47448534-47448584	HPAEpiC	pulmonary alveolar:	n/a
2	chr11:47448534-47448584	GM06990	blood:	n/a
3	chr11:47448534-47448584	Hepatocyte	liver:	n/a
4	chr11:47448534-47448584	NH-A	brain:	n/a
5	chr11:47448534-47448584	GM19239	blood:	n/a
6	chr11:47448534-47448584	LNCaP	prostate:	n/a
7	chr11:47448534-47448584	T-47D	breast:	n/a
8	chr11:47448534-47448584	HCPEpiC	choroid plexus:	n/a
9	chr11:47448534-47448584	AoSMC	blood vessel:	n/a
10	chr11:47448534-47448584	MCF10A-Er-Src	breast:	n/a
11	chr11:47448534-47448584	GM12892	blood:	n/a
12	chr11:47448534-47448584	MCF-7	breast:	n/a
13	chr11:47448534-47448584	SKMC	muscle:	n/a
14	chr11:47448534-47448584	IMR90	lung:	fetal
15	chr11:47448534-47448584	HMEC	breast:	n/a
16	chr11:47448534-47448584	ovcar-3	ovarian:	n/a
17	chr11:47448534-47448584	HRCEpiC	kidney:	n/a
18	chr11:47448534-47448584	HUVEC	blood vessel:	n/a
19	chr11:47448534-47448584	HL-60	blood:	n/a
20	chr11:47448534-47448584	Hela-S3	cervix:	n/a
21	chr11:47448534-47448584	U87	brain:	n/a
22	chr11:47448534-47448584	SK-N-SH	brain:	n/a
23	chr11:47448534-47448584	HNPCEpiC	eye:	n/a
24	chr11:47448534-47448584	HCM	heart:	n/a
25	chr11:47448534-47448584	NT2-D1	testis:	n/a
26	chr11:47448534-47448584	AG09309	skin:	n/a
27	chr11:47448534-47448584	HepG2	liver:	n/a
28	chr11:47448534-47448584	HRPEpiC	eye:	n/a
29	chr11:47448534-47448584	AG04449	skin:	fetal
30	chr11:47448534-47448584	GM12891	blood:	n/a
31	chr11:47448534-47448584	A549	lung:	n/a
32	chr11:47448534-47448584	BJ	skin:	n/a
33	chr11:47448534-47448584	RPTEC	kidney:	n/a
34	chr11:47448534-47448584	HEEpiC	esophagus:	n/a
35	chr11:47448534-47448584	BE2_C	brain:	n/a
36	chr11:47448534-47448584	HRE	kidney:	n/a
37	chr11:47448534-47448584	K562	blood:	n/a
38	chr11:47448534-47448584	HCT-116	colon:	n/a
39	chr11:47448534-47448584	HCF	heart:	n/a
40	chr11:47448534-47448584	CMK	blood:	n/a
41	chr11:47448534-47448584	ProgFib	skin:	n/a
42	chr11:47448534-47448584	AG04450	lung:	fetal
43	chr11:47448534-47448584	SK-N-SH_RA	brain:	n/a
44	chr11:47448534-47448584	PFSK-1	brain:	n/a
45	chr11:47448534-47448584	SK-N-MC	brain:	n/a
46	chr11:47448534-47448584	Caco-2	colon:	n/a
47	chr11:47448534-47448584	AG10803	skin:	n/a
48	chr11:47448534-47448584	Jurkat	blood:	n/a
49	chr11:47448534-47448584	HIPEpiC	eye:	n/a
50	chr11:47448534-47448584	PANC-1	pancreas:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:47198368..47200069-chr11:47446814..47449315,2	MCF-7	breast:
2	chr11:47446295..47450524-chr11:47461441..47464685,6	MCF-7	breast:
3	chr11:47399004..47400770-chr11:47446343..47448819,3	K562	blood:
4	chr11:47196939..47199221-chr11:47446629..47449473,2	K562	blood:
5	chr11:47398927..47401374-chr11:47448250..47449858,2	K562	blood:

Variant related genes	Relation type
PSMC3	TF binding region
PSMC3	CpG island
ENSG00000252327	Chromatin interaction
ENSG00000066336	Chromatin interaction
ENSG00000165917	Chromatin interaction
ENSG00000149182	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12285933	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17726706	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17726787	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs45547231	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45603036	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45617144	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56007045	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57680742	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895081	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895104	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61895111	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61895113	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61897423	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61897424	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61897426	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897429	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897430	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61897432	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897434	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102372	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104800	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7108608	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116534	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9919527	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9919657	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS 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	44 gene(s)	inside rSNPs	diseases
6	nsv825871	chr11:47376020-47457537	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv554210	chr11:47380593-47449544	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
8	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
9	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	50 gene(s)	inside rSNPs	diseases
10	nsv975328	chr11:47446815-47471052	Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47446600-47448600	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr11:47446600-47449000	Active TSS	Psoas Muscle	Psoas
3	chr11:47446800-47448600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr11:47446800-47448600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:47447000-47448600	Active TSS	H1 Cell Line	embryonic stem cell
6	chr11:47447000-47448600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:47447000-47448600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:47447000-47448600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:47447000-47448600	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr11:47447000-47448600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:47447000-47448600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:47447000-47448800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:47447000-47448800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:47447000-47448800	Active TSS	Esophagus	oesophagus
15	chr11:47447000-47448800	Active TSS	Gastric	stomach
16	chr11:47447000-47448800	Active TSS	NHLF	lung
17	chr11:47447000-47449000	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr11:47447000-47449000	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr11:47447000-47449000	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr11:47447000-47449000	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr11:47447000-47449000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:47447000-47449000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:47447000-47449000	Active TSS	Fetal Kidney	kidney
24	chr11:47447000-47449000	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr11:47447000-47449000	Active TSS	Left Ventricle	heart
26	chr11:47447000-47449000	Active TSS	Lung	lung
27	chr11:47447000-47449000	Active TSS	Ovary	ovary
28	chr11:47447000-47449000	Active TSS	Pancreas	Pancrea
29	chr11:47447000-47449000	Active TSS	A549	lung
30	chr11:47447000-47449000	Active TSS	NHDF-Ad	bronchial
31	chr11:47447000-47449200	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr11:47447200-47448600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:47447200-47448600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:47447200-47448600	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr11:47447200-47448600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:47447200-47448600	Active TSS	Fetal Heart	heart
37	chr11:47447200-47448600	Active TSS	Fetal Lung	lung
38	chr11:47447200-47448600	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr11:47447200-47448600	Active TSS	HSMMtube	muscle
40	chr11:47447200-47448600	Active TSS	K562	blood
41	chr11:47447200-47448800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:47447200-47448800	Active TSS	Muscle Satellite Cultured Cells	--
43	chr11:47447200-47448800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:47447200-47448800	Active TSS	Brain Angular Gyrus	brain
45	chr11:47447200-47448800	Active TSS	Fetal Intestine Small	intestine
46	chr11:47447200-47448800	Active TSS	Hela-S3	cervix
47	chr11:47447200-47448800	Active TSS	HSMM	muscle
48	chr11:47447200-47448800	Active TSS	NH-A	brain
49	chr11:47447200-47449000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:47447200-47449000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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