Variant report

Variant	rs698367
Chromosome Location	chr5:114963553-114963554
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	STAT3	chr5:114963443-114963583	MCF10A-Er-Src	breast:	n/a	chr5:114963490-114963501 chr5:114963492-114963500

No.	Distal block	Cell Line	Cell type
1	chr5:114960793..114963745-chr5:114966203..114968929,3	MCF-7	breast:
2	chr5:114961758..114963636-chr5:115175834..115179975,3	K562	blood:
3	chr5:114959789..114964126-chr5:115174280..115179155,11	MCF-7	breast:
4	chr5:114878501..114880649-chr5:114962329..114964863,2	K562	blood:
5	chr5:114960090..114964183-chr5:115419193..115421485,4	MCF-7	breast:
6	chr5:114961103..114964725-chr5:115175944..115179319,4	K562	blood:

Variant related genes	Relation type
TICAM2	TF binding region
TMED7	TF binding region
TMED7-TICAM2	TF binding region
ENSG00000145780	Chromatin interaction
ENSG00000177879	Chromatin interaction
ENSG00000134970	Chromatin interaction
ENSG00000145782	Chromatin interaction
ENSG00000145781	Chromatin interaction
ENSG00000271918	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10055677	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13164545	0.96[CEU][hapmap];0.81[CHB][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13186296	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs171774	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2303747	0.92[CEU][hapmap];0.82[CHB][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs256941	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs256942	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256944	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs256945	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs256947	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256948	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256949	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs256950	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256951	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256952	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256953	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256955	0.87[CHB][hapmap]
rs256962	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs256964	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs256967	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs256969	0.92[EUR][1000 genomes]
rs256988	0.92[EUR][1000 genomes]
rs256991	0.92[EUR][1000 genomes]
rs256993	0.92[EUR][1000 genomes]
rs256997	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs256998	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs377290	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3822579	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs400570	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs413059	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs415577	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs416234	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs424434	1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs428191	1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4920967	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62371215	0.83[ASN][1000 genomes]
rs698365	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs698366	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs712550	0.97[ASN][1000 genomes]
rs712551	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7702283	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7702869	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7702881	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs790824	1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs790825	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9326969	1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114962400-114965200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:114962400-114971800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:114962600-114963800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr5:114962600-114965000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:114962600-114965400	Weak transcription	K562	blood
6	chr5:114962600-114967400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:114962600-114967400	Weak transcription	Fetal Lung	lung
8	chr5:114962600-114967600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:114962600-114967600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:114962600-114968400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr5:114962600-114968400	Weak transcription	Liver	Liver
12	chr5:114962600-114968600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr5:114962600-114968600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:114962600-114969000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:114962600-114969600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:114962600-114969800	Weak transcription	HUVEC	blood vessel
17	chr5:114962600-114969800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr5:114962600-114970000	Weak transcription	Fetal Intestine Small	intestine
19	chr5:114962800-114970000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr5:114963000-114963600	Weak transcription	Thymus	Thymus
21	chr5:114963000-114966200	Weak transcription	HepG2	liver
22	chr5:114963000-114969800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr5:114963000-114969800	Weak transcription	NHDF-Ad	bronchial
24	chr5:114963000-114970000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr5:114963000-114970000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr5:114963200-114969800	Weak transcription	Primary T cells from cord blood	blood
27	chr5:114963200-114970000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:114963200-114970000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:114963400-114969000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:114963400-114969800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr5:114963400-114970000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr5:114963400-114970000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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