Variant report

Variant	rs4752863
Chromosome Location	chr11:47736314-47736315
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	POLR2A	chr11:47736312-47737280	GM12892	blood:	n/a	n/a
2	CEBPB	chr11:47736129-47736381	Hela-S3	cervix:	n/a	n/a
3	MAX	chr11:47736301-47737120	H1-hESC	embryonic stem cell:	n/a	chr11:47736996-47737006
4	SIN3AK20	chr11:47736096-47737456	MCF-7	breast:	n/a	n/a
5	E2F6	chr11:47736236-47737174	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr11:47736304-47737212	NB4	blood:	n/a	chr11:47736996-47737006
7	CEBPB	chr11:47736135-47736448	IMR90	lung:	n/a	n/a
8	FOXA2	chr11:47736117-47736393	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:47736256-47737361	GM12892	blood:	n/a	n/a
10	POLR2A	chr11:47736303-47737306	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr11:47736171-47737338	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:47736099-47737406	SK-N-MC	brain:	n/a	n/a
13	POLR2A	chr11:47735753-47737363	GM12892	blood:	n/a	n/a
14	POLR2A	chr11:47736264-47737256	GM18505	blood:	n/a	n/a
15	POLR2A	chr11:47736305-47737261	K562	blood:	n/a	n/a
16	POLR2A	chr11:47736247-47737269	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr11:47736134-47736413	K562	blood:	n/a	n/a
18	MAX	chr11:47736234-47737212	HepG2	liver:	n/a	chr11:47736996-47737006
19	E2F6	chr11:47736313-47737141	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr11:47736314-47737033	H1-hESC	embryonic stem cell:	n/a	chr11:47736996-47737006
21	POLR2A	chr11:47736254-47737445	MCF-7	breast:	n/a	n/a
22	MXI1	chr11:47735493-47737290	IMR90	lung:	n/a	chr11:47736668-47736677
23	MTA3	chr11:47735988-47737486	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:47736202-47737364	GM12891	blood:	n/a	n/a
25	POLR2A	chr11:47735979-47737415	GM12891	blood:	n/a	n/a
26	CEBPB	chr11:47736071-47736521	MCF-7	breast:	n/a	n/a
27	TAF1	chr11:47736230-47737188	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr11:47736246-47737407	Hela-S3	cervix:	n/a	n/a
29	STAT1	chr11:47736289-47737057	GM12878	blood:	n/a	chr11:47736540-47736551
30	E2F6	chr11:47736310-47737014	A549	lung:	n/a	n/a
31	TCF12	chr11:47736232-47737303	A549	lung:	n/a	chr11:47736925-47736932 chr11:47736667-47736677 chr11:47736394-47736404
32	CEBPB	chr11:47736108-47736454	HepG2	liver:	n/a	n/a
33	POLR2A	chr11:47736112-47737365	PFSK-1	brain:	n/a	n/a
34	MAX	chr11:47736210-47737312	A549	lung:	n/a	chr11:47736996-47737006
35	POLR2A	chr11:47736252-47737441	U87	brain:	n/a	n/a
36	POLR2A	chr11:47735940-47737470	PANC-1	pancreas:	n/a	n/a
37	CEBPB	chr11:47736134-47736423	A549	lung:	n/a	n/a
38	PML	chr11:47735892-47737412	GM12878	blood:	n/a	chr11:47736652-47736660
39	MAX	chr11:47736222-47737160	MCF-7	breast:	n/a	chr11:47736996-47737006
40	SIN3A	chr11:47736188-47737258	H1-hESC	embryonic stem cell:	n/a	chr11:47736482-47736496
41	CTCF	chr11:47736280-47736430	WI-38	lung:	n/a	n/a
42	MTA3	chr11:47735802-47737326	GM12878	blood:	n/a	n/a
43	POLR2A	chr11:47736294-47737373	PANC-1	pancreas:	n/a	n/a
44	POLR2A	chr11:47736303-47737411	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr11:47736015-47737261	GM12878	blood:	n/a	n/a
46	GTF2F1	chr11:47736299-47736365	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr11:47735872-47736698	K562	blood:	n/a	n/a
48	MAX	chr11:47736248-47737173	A549	lung:	n/a	chr11:47736996-47737006
49	POLR2A	chr11:47736045-47737391	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAZ	chr11:47736250-47737283	IMR90	lung:	n/a	chr11:47736996-47737006

No.	Distal block	Cell Line	Cell type
1	chr11:47734421..47738084-chr11:47868728..47871724,4	K562	blood:
2	chr11:47735244..47736764-chr3:73158620..73160572,2	MCF-7	breast:
3	chr11:47662579..47666117-chr11:47735408..47738256,8	MCF-7	breast:
4	chr11:47735244..47736764-chr17:41464183..41466327,3	K562	blood:
5	chr11:47662583..47667763-chr11:47735291..47739208,6	MCF-7	breast:
6	chr11:47736244..47736744-chr8:26239882..26240872,2	Hela-S3	cervix:
7	chr11:47736264..47737264-chr19:40791442..40792121,2	NB4	blood:
8	chr11:47733919..47739426-chr11:47787626..47790588,5	MCF-7	breast:
9	chr11:47736208..47737010-chr16:2204380..2205161,2	NB4	blood:
10	chr11:47735300..47737622-chr11:47868024..47869979,2	MCF-7	breast:
11	chr11:47736234..47739669-chr11:47788606..47790744,3	MCF-7	breast:

Variant related genes	Relation type
AGBL2	TF binding region
ENSG00000188825	Chromatin interaction
ENSG00000105221	Chromatin interaction
ENSG00000109920	Chromatin interaction
ENSG00000030066	Chromatin interaction
ENSG00000104765	Chromatin interaction
ENSG00000109919	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000206630	Chromatin interaction
ENSG00000228451	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10742819	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10769293	0.94[ASW][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10769301	0.86[AFR][1000 genomes]
rs10838756	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10838785	0.86[AFR][1000 genomes]
rs11039312	1.00[MEX][hapmap]
rs11039437	0.83[AFR][1000 genomes]
rs11819816	0.80[AFR][1000 genomes]
rs1459988	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs2233354	1.00[MEX][hapmap]
rs2869542	0.85[AFR][1000 genomes]
rs4256934	1.00[MEX][hapmap]
rs4331047	1.00[MEX][hapmap]
rs4418760	1.00[MEX][hapmap]
rs4486587	1.00[MEX][hapmap]
rs4500446	0.86[AFR][1000 genomes]
rs4519055	0.86[AFR][1000 genomes]
rs4623856	1.00[MEX][hapmap]
rs4752868	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs4752874	0.86[AFR][1000 genomes]
rs4752876	0.86[AFR][1000 genomes]
rs6416137	1.00[MEX][hapmap]
rs6485791	0.86[AFR][1000 genomes]
rs7106293	1.00[MEX][hapmap]
rs7107116	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs7112381	0.83[AFR][1000 genomes]
rs7125276	0.87[ASW][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs7128206	0.87[AFR][1000 genomes]
rs7130715	1.00[ASW][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs7936734	0.94[AFR][1000 genomes]
rs7945233	0.86[AFR][1000 genomes]
rs7945302	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469858	chr11:47647515-47837172	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv832143	chr11:47700808-47883540	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47732400-47737600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:47733000-47736800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:47735400-47737000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:47735600-47737200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:47735800-47736400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr11:47735800-47736400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:47735800-47736400	Flanking Active TSS	Colon Smooth Muscle	Colon
8	chr11:47735800-47736400	Flanking Active TSS	Fetal Lung	lung
9	chr11:47735800-47736400	Enhancers	Small Intestine	intestine
10	chr11:47735800-47736400	Flanking Active TSS	A549	lung
11	chr11:47735800-47736400	Flanking Active TSS	GM12878-XiMat	blood
12	chr11:47735800-47736400	Flanking Active TSS	NHLF	lung
13	chr11:47735800-47736600	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr11:47735800-47736600	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr11:47735800-47736800	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr11:47735800-47737200	Active TSS	K562	blood
17	chr11:47735800-47737400	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr11:47735800-47737400	Flanking Active TSS	Dnd41	blood
19	chr11:47736000-47736400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr11:47736000-47736400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr11:47736000-47736400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:47736000-47736400	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr11:47736000-47736400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:47736000-47736400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr11:47736000-47736400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:47736000-47736400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr11:47736000-47736400	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
28	chr11:47736000-47736400	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr11:47736000-47736400	Enhancers	Fetal Brain Male	brain
30	chr11:47736000-47736400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr11:47736000-47736400	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr11:47736000-47736400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr11:47736000-47736400	Flanking Active TSS	Osteobl	bone
34	chr11:47736000-47736600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:47736000-47736600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr11:47736000-47736600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr11:47736000-47736600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr11:47736000-47736600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr11:47736000-47736600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:47736000-47736600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr11:47736000-47736600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:47736000-47736600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr11:47736000-47736600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:47736000-47736600	Flanking Active TSS	Liver	Liver
45	chr11:47736000-47736600	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr11:47736000-47736600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr11:47736000-47736600	Flanking Active TSS	NHEK	skin
48	chr11:47736000-47736800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr11:47736000-47736800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr11:47736000-47736800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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