Variant report

Variant	rs61537950
Chromosome Location	chr11:71640071-71640072
allele	C/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	PML	chr11:71639847-71640383	K562	blood:	n/a	n/a
2	MAX	chr11:71638887-71640493	K562	blood:	n/a	chr11:71640003-71640013
3	GABPA	chr11:71639273-71640293	K562	blood:	n/a	chr11:71640002-71640011
4	NR2C2	chr11:71639058-71640160	GM12878	blood:	n/a	chr11:71639699-71639708
5	BRCA1	chr11:71639744-71640266	HepG2	liver:	n/a	n/a
6	EGR1	chr11:71639863-71640249	GM12878	blood:	n/a	chr11:71640003-71640016 chr11:71640003-71640016 chr11:71640087-71640101 chr11:71640001-71640011
7	POLR2A	chr11:71639943-71640312	GM12891	blood:	n/a	n/a
8	MYC	chr11:71638925-71640133	H1-hESC	embryonic stem cell:	n/a	chr11:71640003-71640013
9	ATF2	chr11:71639325-71640324	H1-hESC	embryonic stem cell:	n/a	n/a
10	ZBTB33	chr11:71639323-71640320	HCT-116	colon:	n/a	chr11:71640072-71640082
11	MAZ	chr11:71638813-71640635	IMR90	lung:	n/a	chr11:71640003-71640013
12	POLR2A	chr11:71638936-71640413	HL-60	blood:	n/a	n/a
13	MYC	chr11:71638980-71640672	K562	blood:	n/a	chr11:71640003-71640013
14	GTF2F1	chr11:71638866-71640158	H1-hESC	embryonic stem cell:	n/a	n/a
15	YY1	chr11:71639922-71640404	K562	blood:	n/a	chr11:71640097-71640117 chr11:71640002-71640011
16	SP1	chr11:71639464-71640170	H1-hESC	embryonic stem cell:	n/a	chr11:71640001-71640010 chr11:71640021-71640042 chr11:71640001-71640015 chr11:71640002-71640011 chr11:71640001-71640010 chr11:71640000-71640012 chr11:71640001-71640011 chr11:71640000-71640012 chr11:71640001-71640011
17	YY1	chr11:71638945-71640393	K562	blood:	n/a	chr11:71639593-71639612 chr11:71640097-71640117 chr11:71639599-71639607 chr11:71640002-71640011
18	ZBTB33	chr11:71639901-71640230	HepG2	liver:	n/a	chr11:71640072-71640082
19	SIN3AK20	chr11:71638791-71640608	MCF-7	breast:	n/a	n/a
20	CHD2	chr11:71639347-71640329	HepG2	liver:	n/a	n/a
21	MAX	chr11:71639214-71640281	HepG2	liver:	n/a	chr11:71640003-71640013
22	TAF1	chr11:71638903-71640617	A549	lung:	n/a	n/a
23	IRF1	chr11:71639264-71640272	K562	blood:	n/a	chr11:71639271-71639284 chr11:71639271-71639284 chr11:71640032-71640041 chr11:71639998-71640012
24	YY1	chr11:71639273-71640478	ECC-1	luminal epithelium:	n/a	chr11:71639593-71639612 chr11:71640097-71640117 chr11:71639599-71639607 chr11:71640002-71640011
25	NFYB	chr11:71639649-71640212	GM12878	blood:	n/a	chr11:71640030-71640045 chr11:71640029-71640043 chr11:71640031-71640041 chr11:71640032-71640044 chr11:71640028-71640043 chr11:71640028-71640043
26	POLR2A	chr11:71638652-71640326	PFSK-1	brain:	n/a	n/a
27	MYC	chr11:71638855-71640687	K562	blood:	n/a	chr11:71640003-71640013
28	YY1	chr11:71639631-71640473	H1-hESC	embryonic stem cell:	n/a	chr11:71640097-71640117 chr11:71640002-71640011
29	MAX	chr11:71638863-71640544	A549	lung:	n/a	chr11:71640003-71640013
30	CREB1	chr11:71639082-71640484	HepG2	liver:	n/a	n/a
31	WRNIP1	chr11:71638968-71641049	GM12878	blood:	n/a	n/a
32	MAX	chr11:71638993-71640453	GM12878	blood:	n/a	chr11:71640003-71640013
33	GABPA	chr11:71639849-71640249	HepG2	liver:	n/a	chr11:71640002-71640011
34	POLR2A	chr11:71639871-71640379	GM12878	blood:	n/a	n/a
35	MAX	chr11:71638973-71640325	H1-hESC	embryonic stem cell:	n/a	chr11:71640003-71640013
36	ZNF143	chr11:71639258-71640396	GM12878	blood:	n/a	chr11:71639717-71639735 chr11:71639724-71639733 chr11:71639663-71639672
37	POLR2A	chr11:71638909-71640330	GM15510	blood:	n/a	n/a
38	GABPA	chr11:71639069-71640552	HL-60	blood:	n/a	chr11:71640002-71640011
39	TAF1	chr11:71639869-71640347	HepG2	liver:	n/a	n/a
40	TAF1	chr11:71639879-71640351	SK-N-SH	brain:	n/a	n/a
41	TCF12	chr11:71639913-71640224	GM12878	blood:	n/a	chr11:71640063-71640070
42	MAX	chr11:71639156-71640303	MCF-7	breast:	n/a	chr11:71640003-71640013
43	MAX	chr11:71638948-71640343	Hela-S3	cervix:	n/a	chr11:71640003-71640013
44	ELF1	chr11:71639265-71640242	HepG2	liver:	n/a	chr11:71639696-71639707 chr11:71639695-71639708 chr11:71639697-71639706
45	CTCF	chr11:71640000-71640157	GM12878	blood:	n/a	chr11:71640006-71640019 chr11:71640006-71640019
46	HEY1	chr11:71639173-71640393	HepG2	liver:	n/a	n/a
47	POLR2A	chr11:71638873-71640387	PANC-1	pancreas:	n/a	n/a
48	POLR2A	chr11:71639831-71640386	ECC-1	luminal epithelium:	n/a	n/a
49	BCL3	chr11:71638892-71640413	A549	lung:	n/a	n/a
50	KAP1	chr11:71639042-71640335	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:71638248..71640782-chr11:71791184..71792782,2	K562	blood:
2	chr11:71639162..71640098-chr9:139980826..139981643,2	Hela-S3	cervix:
3	chr11:71638377..71641678-chr11:71642670..71653439,17	MCF-7	breast:
4	chr11:71638884..71640864-chr11:71694581..71697460,2	K562	blood:
5	chr11:71637612..71641494-chr11:71650147..71652866,4	K562	blood:
6	chr11:71638287..71640361-chr11:71821333..71824174,2	MCF-7	breast:
7	chr11:71637727..71640735-chr11:71691994..71694781,3	MCF-7	breast:

Variant related genes	Relation type
RNF121	TF binding region
ENSG00000254469	TF binding region
ENSG00000110200	Chromatin interaction
ENSG00000184154	Chromatin interaction
ENSG00000177239	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000137522	Chromatin interaction
ENSG00000268996	Chromatin interaction
ENSG00000255296	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs55673306	1.00[AFR][1000 genomes]
rs55718460	0.86[AFR][1000 genomes]
rs55724289	0.86[AFR][1000 genomes]
rs56160537	1.00[AFR][1000 genomes]
rs56249089	0.86[AFR][1000 genomes]
rs56304359	0.86[AFR][1000 genomes]
rs56785523	1.00[AFR][1000 genomes]
rs57683667	0.86[AFR][1000 genomes]
rs58408933	1.00[AFR][1000 genomes]
rs58895750	0.86[AFR][1000 genomes]
rs59722863	0.86[AFR][1000 genomes]
rs61051812	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	esv2758276	chr11:71363639-71657576	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv2759836	chr11:71363639-71657576	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 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	chr11:71638200-71640800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:71638400-71640800	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr11:71638400-71640800	Active TSS	Sigmoid Colon	Sigmoid Colon
4	chr11:71638400-71641000	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr11:71638600-71640600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:71638600-71640600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:71638600-71640800	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr11:71638600-71640800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:71638600-71640800	Active TSS	Fetal Intestine Large	intestine
10	chr11:71638600-71640800	Active TSS	HMEC	breast
11	chr11:71638600-71640800	Active TSS	K562	blood
12	chr11:71638600-71640800	Active TSS	NHDF-Ad	bronchial
13	chr11:71638600-71641000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr11:71638600-71641000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:71638600-71641200	Active TSS	Fetal Kidney	kidney
16	chr11:71638600-71641200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr11:71638600-71641200	Active TSS	NHLF	lung
18	chr11:71638600-71641400	Active TSS	Fetal Intestine Small	intestine
19	chr11:71638600-71641600	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr11:71638600-71641600	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr11:71638800-71640400	Active TSS	Colonic Mucosa	Colon
22	chr11:71638800-71640400	Active TSS	Rectal Smooth Muscle	rectum
23	chr11:71638800-71640600	Active TSS	Fetal Stomach	stomach
24	chr11:71638800-71640600	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr11:71638800-71640600	Active TSS	Right Ventricle	heart
26	chr11:71638800-71640600	Active TSS	Dnd41	blood
27	chr11:71638800-71640800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:71638800-71640800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:71638800-71640800	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr11:71638800-71640800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:71638800-71640800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:71638800-71640800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:71638800-71640800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:71638800-71640800	Active TSS	Fetal Lung	lung
35	chr11:71638800-71640800	Active TSS	Psoas Muscle	Psoas
36	chr11:71638800-71640800	Active TSS	Right Atrium	heart
37	chr11:71638800-71641000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:71638800-71641000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:71638800-71641000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:71638800-71641200	Active TSS	H9 Cell Line	embryonic stem cell
41	chr11:71638800-71641200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:71638800-71641400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:71638800-71641600	Active TSS	H1 Cell Line	embryonic stem cell
44	chr11:71638800-71641600	Active TSS	A549	lung
45	chr11:71638800-71641600	Active TSS	HSMMtube	muscle
46	chr11:71638800-71642200	Active TSS	GM12878-XiMat	blood
47	chr11:71639000-71640400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:71639000-71640400	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr11:71639000-71640400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr11:71639000-71640400	Active TSS	Primary T killer memory cells from peripheral blood	blood

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