Variant report

Variant	rs17134210
Chromosome Location	chr11:75350871-75350872
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	EBF1	chr11:75350697-75351145	GM12878	blood:	n/a	n/a
2	MXI1	chr11:75348971-75351697	SK-N-SH	brain:	n/a	chr11:75351071-75351086
3	SIN3AK20	chr11:75350772-75351227	SK-N-SH	brain:	n/a	n/a
4	NFIC	chr11:75350583-75351352	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr11:75350722-75351468	H1-neurons	neurons:	n/a	n/a
6	EBF1	chr11:75350821-75351093	GM12878	blood:	n/a	n/a
7	PAX5	chr11:75350820-75351123	GM12878	blood:	n/a	chr11:75351024-75351033
8	GATA3	chr11:75350612-75351454	SK-N-SH	brain:	n/a	chr11:75350980-75350987
9	GATA3	chr11:75350479-75351165	SH-SY5Y	brain:	n/a	chr11:75350980-75350987
10	BCL11A	chr11:75350799-75351048	GM12878	blood:	n/a	chr11:75351024-75351033
11	REST	chr11:75350729-75351219	SK-N-SH	brain:	n/a	chr11:75351100-75351109
12	RAD21	chr11:75350730-75351341	SK-N-SH_RA	brain:	n/a	chr11:75351046-75351058 chr11:75351048-75351058 chr11:75351051-75351065
13	GATA2	chr11:75350617-75351275	SH-SY5Y	brain:	n/a	chr11:75350980-75350987
14	EP300	chr11:75350723-75351330	SK-N-SH_RA	brain:	n/a	chr11:75351024-75351038
15	EP300	chr11:75350728-75351424	SK-N-SH_RA	brain:	n/a	chr11:75351024-75351038
16	FOXP2	chr11:75350745-75351182	SK-N-MC	brain:	n/a	n/a
17	PBX3	chr11:75350743-75351337	SK-N-SH	brain:	n/a	n/a
18	TCF12	chr11:75350579-75351470	SK-N-SH	brain:	n/a	n/a
19	SPI1	chr11:75350736-75351259	GM12878	blood:	n/a	chr11:75350921-75350928 chr11:75351024-75351033
20	TAF1	chr11:75350787-75351134	SK-N-SH	brain:	n/a	n/a
21	YY1	chr11:75350682-75351164	SK-N-SH_RA	brain:	n/a	n/a
22	REST	chr11:75350574-75351658	H1-neurons	neurons:	n/a	chr11:75351100-75351109
23	POLR2A	chr11:75350701-75351235	SK-N-SH	brain:	n/a	n/a
24	SPI1	chr11:75350866-75351218	GM12891	blood:	n/a	chr11:75350921-75350928 chr11:75351024-75351033
25	PAX5	chr11:75350771-75351097	GM12878	blood:	n/a	chr11:75351024-75351033
26	POLR2A	chr11:75350707-75351496	H1-neurons	neurons:	n/a	n/a
27	TCF12	chr11:75350831-75351130	GM12878	blood:	n/a	n/a
28	PAX5	chr11:75350752-75351235	GM12878	blood:	n/a	chr11:75351024-75351033
29	EBF1	chr11:75350741-75351154	GM12878	blood:	n/a	n/a
30	GATA3	chr11:75350499-75351452	SK-N-SH	brain:	n/a	chr11:75350980-75350987
31	PBX3	chr11:75350661-75351385	SK-N-SH	brain:	n/a	n/a
32	YY1	chr11:75350725-75351263	SK-N-SH_RA	brain:	n/a	n/a
33	SPI1	chr11:75350803-75351167	GM12878	blood:	n/a	chr11:75350921-75350928 chr11:75351024-75351033

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75349737..75352508-chr11:75363193..75364907,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254630	TF binding region
ENSG00000255280	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10160335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10160495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.99[AFR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11236475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236480	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.99[AFR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12279672	0.93[AFR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12281880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.99[AFR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12282340	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12294083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12574289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12574551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12576635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12577202	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12577652	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs12577671	0.82[CHB][hapmap]
rs12577817	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17134189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134192	1.00[EUR][1000 genomes]
rs17134231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17134235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1894210	0.88[EUR][1000 genomes]
rs2009247	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3862804	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4544029	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57777945	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58567299	0.86[ASN][1000 genomes]
rs59533422	0.86[ASN][1000 genomes]
rs60312531	0.83[EUR][1000 genomes]
rs61895119	0.88[EUR][1000 genomes]
rs61895120	0.88[EUR][1000 genomes]
rs61895121	0.88[EUR][1000 genomes]
rs61895122	0.91[EUR][1000 genomes]
rs61895123	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895124	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61895125	1.00[EUR][1000 genomes]
rs61895126	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895128	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895131	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895132	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895133	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895134	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61895137	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61895139	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61895140	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61895141	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61895142	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61895143	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61897960	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7111913	0.89[EUR][1000 genomes]
rs7128429	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73488490	0.99[AFR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73488497	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73502466	0.84[EUR][1000 genomes]
rs7482921	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75330200-75356200	Weak transcription	Aorta	Aorta
2	chr11:75340000-75352600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr11:75346600-75351600	Enhancers	Brain Germinal Matrix	brain
4	chr11:75346800-75351200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr11:75347200-75351000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr11:75348000-75351000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr11:75348800-75351600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr11:75349200-75351600	Enhancers	Fetal Heart	heart
9	chr11:75349400-75351600	Enhancers	Fetal Lung	lung
10	chr11:75349600-75351600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:75350000-75351000	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr11:75350000-75351400	Enhancers	HSMMtube	muscle
13	chr11:75350200-75351000	Enhancers	Brain Anterior Caudate	brain
14	chr11:75350200-75351600	Enhancers	Fetal Stomach	stomach
15	chr11:75350400-75351000	Flanking Active TSS	Fetal Brain Male	brain
16	chr11:75350400-75351200	Enhancers	Primary B cells from peripheral blood	blood
17	chr11:75350400-75351400	Enhancers	Adipose Nuclei	Adipose
18	chr11:75350400-75351400	Enhancers	Colon Smooth Muscle	Colon
19	chr11:75350400-75351600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:75350400-75351600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:75350400-75351600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:75350400-75351600	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr11:75350400-75351600	Enhancers	Fetal Intestine Small	intestine
24	chr11:75350400-75351600	Enhancers	Fetal Muscle Leg	muscle
25	chr11:75350600-75351000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr11:75350600-75351000	Enhancers	Fetal Kidney	kidney
27	chr11:75350600-75351200	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr11:75350600-75351200	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr11:75350600-75351400	Flanking Active TSS	Fetal Brain Female	brain
30	chr11:75350600-75351400	Enhancers	HSMM	muscle
31	chr11:75350600-75351600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:75350600-75351600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:75350600-75351600	Enhancers	Rectal Smooth Muscle	rectum
34	chr11:75350800-75351000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:75350800-75351000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:75350800-75351000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:75350800-75351000	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr11:75350800-75351000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr11:75350800-75351000	Bivalent Enhancer	K562	blood
40	chr11:75350800-75351200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
41	chr11:75350800-75351200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:75350800-75351200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:75350800-75351200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr11:75350800-75351200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:75350800-75351200	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr11:75350800-75351200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr11:75350800-75351200	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr11:75350800-75351200	Active TSS	Colonic Mucosa	Colon
49	chr11:75350800-75351200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr11:75350800-75351200	Enhancers	Fetal Intestine Large	intestine

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