Variant report

Variant	rs4614773
Chromosome Location	chr17:45963573-45963574
allele	A/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	CEBPB	chr17:45963440-45963699	K562	blood:	n/a	chr17:45963575-45963586
2	CEBPB	chr17:45963374-45963771	HepG2	liver:	n/a	chr17:45963575-45963586
3	USF1	chr17:45963383-45963625	HepG2	liver:	n/a	chr17:45963497-45963508
4	CEBPB	chr17:45963413-45963706	HepG2	liver:	n/a	chr17:45963575-45963586
5	CEBPB	chr17:45963542-45963594	H1-hESC	embryonic stem cell:	n/a	chr17:45963575-45963586
6	CEBPB	chr17:45963452-45963617	A549	lung:	n/a	chr17:45963575-45963586
7	CEBPB	chr17:45963312-45963769	HepG2	liver:	n/a	chr17:45963575-45963586
8	CEBPD	chr17:45963407-45963641	HepG2	liver:	n/a	chr17:45963478-45963489
9	CEBPD	chr17:45963418-45963650	HepG2	liver:	n/a	chr17:45963478-45963489
10	CEBPB	chr17:45963313-45963710	HepG2	liver:	n/a	chr17:45963575-45963586

No.	Distal block	Cell Line	Cell type
1	chr17:45962839..45964351-chr17:45973505..45975412,2	K562	blood:
2	chr17:45928046..45933138-chr17:45958246..45966286,8	K562	blood:
3	chr17:45962826..45965067-chr17:46029549..46031610,2	MCF-7	breast:
4	chr17:45907336..45909766-chr17:45961019..45963765,2	K562	blood:
5	chr17:45907369..45910442-chr17:45960677..45964479,4	MCF-7	breast:
6	chr17:45920242..45924382-chr17:45959879..45966158,9	MCF-7	breast:
7	chr17:45926244..45929145-chr17:45961186..45965001,5	MCF-7	breast:
8	chr17:45961070..45963855-chr17:45969315..45972508,3	MCF-7	breast:
9	chr17:45926557..45929901-chr17:45961355..45964268,4	MCF-7	breast:
10	chr17:45914114..45922201-chr17:45959661..45964608,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266821	TF binding region
ENSG00000141295	Chromatin interaction
ENSG00000167182	Chromatin interaction
ENSG00000159111	Chromatin interaction
ENSG00000189120	Chromatin interaction
ENSG00000141294	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1133221	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12232488	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12453773	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16949270	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16949296	0.92[EUR][1000 genomes]
rs3764393	0.97[EUR][1000 genomes]
rs4450442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56006220	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56124407	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56218899	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58695897	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61702159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7213084	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7214154	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7217147	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7219107	0.97[ASN][1000 genomes]
rs8082055	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9944405	1.00[EUR][1000 genomes];0.98[ASN][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	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv518892	chr17:45887951-46029432	Enhancers Bivalent Enhancer Weak transcription 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	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv908575	chr17:45957591-46049533	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45954600-45964400	Enhancers	Fetal Intestine Large	intestine
2	chr17:45957600-45964200	Enhancers	Fetal Intestine Small	intestine
3	chr17:45958200-45964400	Enhancers	Placenta	Placenta
4	chr17:45959000-45963600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
5	chr17:45959200-45963800	Enhancers	Fetal Thymus	thymus
6	chr17:45959600-45963600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr17:45959600-45963600	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr17:45960000-45971800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr17:45960000-45972200	Weak transcription	HUVEC	blood vessel
10	chr17:45960200-45963600	Enhancers	Primary T cells from cord blood	blood
11	chr17:45960200-45964400	Enhancers	Colonic Mucosa	Colon
12	chr17:45960200-45965000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr17:45960400-45963600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr17:45960400-45972000	Weak transcription	Colon Smooth Muscle	Colon
15	chr17:45960600-45963600	Enhancers	K562	blood
16	chr17:45960800-45963600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr17:45960800-45963600	Enhancers	Thymus	Thymus
18	chr17:45961600-45963600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr17:45961800-45963600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr17:45961800-45963600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr17:45961800-45963600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr17:45961800-45963600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr17:45961800-45963600	Enhancers	Esophagus	oesophagus
24	chr17:45961800-45963600	Enhancers	NHEK	skin
25	chr17:45962000-45963600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr17:45962000-45963600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr17:45962200-45970800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr17:45962200-45971800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr17:45962600-45963600	Enhancers	A549	lung
30	chr17:45962600-45963600	Enhancers	HMEC	breast
31	chr17:45962600-45964400	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr17:45962600-45971200	Weak transcription	Gastric	stomach
33	chr17:45962800-45963600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr17:45962800-45963800	Enhancers	Duodenum Mucosa	Duodenum
35	chr17:45963000-45963600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr17:45963000-45963600	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr17:45963000-45967200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr17:45963000-45971800	Weak transcription	Fetal Lung	lung
39	chr17:45963200-45963600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr17:45963200-45963600	Enhancers	Primary T cells fromperipheralblood	blood
41	chr17:45963200-45963600	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr17:45963200-45965800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr17:45963200-45969200	Weak transcription	Stomach Mucosa	stomach
44	chr17:45963200-45971400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr17:45963200-45971400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr17:45963400-45963600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr17:45963400-45963600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr17:45963400-45963600	Bivalent Enhancer	HepG2	liver
49	chr17:45963400-45964600	Weak transcription	Small Intestine	intestine
50	chr17:45963400-45967200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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