Variant report

Variant	rs4738831
Chromosome Location	chr8:61759145-61759146
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	GATA2	chr8:61758983-61759299	HUVEC	blood vessel:	n/a	n/a
2	NFIC	chr8:61758978-61759554	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
CHD7	TF binding region

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10103011	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10109193	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10448027	0.81[EUR][1000 genomes]
rs10808712	0.90[CHB][hapmap]
rs10808713	1.00[CHB][hapmap]
rs10957156	0.90[CHB][hapmap]
rs10957161	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10957162	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11985638	1.00[CHB][hapmap]
rs11986059	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11986742	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11988338	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11989183	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11992809	1.00[CHB][hapmap]
rs11993480	0.80[ASN][1000 genomes]
rs11993896	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12544305	0.89[CHB][hapmap]
rs13255519	1.00[CHB][hapmap]
rs1384688	1.00[CHB][hapmap]
rs2035456	0.88[CHB][hapmap]
rs2128713	0.90[CHB][hapmap]
rs4237037	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4237038	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4289855	0.81[EUR][1000 genomes]
rs4301480	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4307377	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4387010	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4391471	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4392940	0.82[ASN][1000 genomes]
rs4416857	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4449834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4507803	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4526395	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4540437	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4562360	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4581092	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4737563	1.00[CHB][hapmap]
rs4737565	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4738815	0.90[CHB][hapmap]
rs4738818	0.90[CHB][hapmap]
rs4738827	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4738832	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6471894	0.89[CHB][hapmap]
rs6471896	0.89[CHB][hapmap]
rs6471897	0.80[ASN][1000 genomes]
rs6471898	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs6471902	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6471903	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471905	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6982898	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6996597	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6996775	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997208	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6997222	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7000766	1.00[CHB][hapmap]
rs7000957	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7005873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7011972	0.89[CHB][hapmap]
rs7016832	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs730085	1.00[CHB][hapmap]
rs7814114	0.80[ASN][1000 genomes]
rs7816126	0.80[ASN][1000 genomes]
rs7816621	0.89[CHB][hapmap]
rs7826035	0.90[CHB][hapmap]
rs7834977	0.88[CHB][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7836586	1.00[CHB][hapmap]
rs7840098	1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7842389	1.00[CHB][hapmap]
rs7842498	1.00[CHB][hapmap]
rs7844586	0.81[EUR][1000 genomes]
rs7844902	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs900502	0.90[CHB][hapmap]
rs9298042	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9643371	0.90[CHB][hapmap]

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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv890946	chr8:61726879-61802076	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61718800-61781000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:61737800-61760800	Weak transcription	Stomach Mucosa	stomach
3	chr8:61740400-61780200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:61740600-61765000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr8:61741200-61760200	Strong transcription	Primary B cells from peripheral blood	blood
6	chr8:61741200-61763800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:61741200-61770600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:61741400-61761800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr8:61741400-61762200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr8:61741400-61764600	Weak transcription	Osteobl	bone
11	chr8:61741600-61762400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:61741800-61777600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:61741800-61780800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:61742200-61778800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:61743400-61777400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr8:61744600-61764600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:61747200-61763800	Strong transcription	Primary B cells from cord blood	blood
18	chr8:61747400-61759800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:61747600-61760000	Strong transcription	HSMM	muscle
20	chr8:61747600-61767200	Strong transcription	GM12878-XiMat	blood
21	chr8:61747800-61759600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:61747800-61760000	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr8:61747800-61760000	Strong transcription	HSMMtube	muscle
24	chr8:61748200-61759400	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr8:61748200-61759600	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr8:61748400-61771800	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr8:61748600-61759400	Strong transcription	Fetal Muscle Trunk	muscle
28	chr8:61748600-61759400	Strong transcription	Fetal Muscle Leg	muscle
29	chr8:61748600-61759600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:61748600-61767200	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr8:61748600-61770400	Strong transcription	Placenta	Placenta
32	chr8:61748800-61759800	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr8:61749000-61764800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr8:61749200-61766800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:61749400-61770200	Strong transcription	HepG2	liver
36	chr8:61749400-61777600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr8:61749600-61768000	Weak transcription	Ovary	ovary
38	chr8:61750600-61759400	Strong transcription	NHEK	skin
39	chr8:61750600-61759800	Weak transcription	Small Intestine	intestine
40	chr8:61750800-61776200	Strong transcription	Liver	Liver
41	chr8:61751000-61777800	Weak transcription	Aorta	Aorta
42	chr8:61751400-61762400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr8:61751800-61763000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr8:61751800-61780400	Strong transcription	Fetal Intestine Large	intestine
45	chr8:61752000-61760600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr8:61752000-61761000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr8:61752600-61780400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr8:61752800-61773800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:61752800-61779000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr8:61753000-61759800	Weak transcription	Fetal Brain Male	brain

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