Variant report

Variant	rs13112985
Chromosome Location	chr4:152205278-152205279
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11733600	0.83[CEU][hapmap]
rs12508449	0.83[CEU][hapmap]
rs12647331	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12649929	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13102005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13117723	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13120319	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13126069	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13126943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13128346	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13135328	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13137979	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13148086	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13150868	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1316858	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17590612	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34041707	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36097019	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3990708	0.83[CEU][hapmap]
rs3990734	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4385037	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6535785	0.81[CEU][hapmap]
rs66559303	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6819551	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6832149	0.96[CEU][hapmap];0.87[TSI][hapmap]
rs6846745	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6849871	0.83[CEU][hapmap]
rs9997353	0.96[CEU][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	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv881526	chr4:151968295-152489087	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1025192	chr4:152202627-152498890	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv537307	chr4:152202627-152498890	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152182600-152211000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:152182800-152206000	Weak transcription	NHEK	skin
3	chr4:152189400-152205800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:152190800-152208600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:152194200-152213200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr4:152196000-152218400	Weak transcription	Psoas Muscle	Psoas
7	chr4:152197800-152242400	Weak transcription	Aorta	Aorta
8	chr4:152198200-152205800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:152198600-152205800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr4:152198800-152221800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:152198800-152242800	Weak transcription	Fetal Lung	lung
12	chr4:152201600-152205800	Weak transcription	Liver	Liver
13	chr4:152201600-152206000	Weak transcription	Right Ventricle	heart
14	chr4:152201600-152228600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:152202000-152206000	Weak transcription	Ovary	ovary
16	chr4:152202400-152206000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:152202600-152214800	Weak transcription	Small Intestine	intestine
18	chr4:152202800-152206000	Weak transcription	Stomach Mucosa	stomach
19	chr4:152203400-152210800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr4:152203600-152215600	Weak transcription	Lung	lung
21	chr4:152203600-152216000	Weak transcription	Left Ventricle	heart
22	chr4:152203600-152243000	Weak transcription	Esophagus	oesophagus
23	chr4:152204200-152210200	Enhancers	HUVEC	blood vessel
24	chr4:152204400-152205400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr4:152204400-152205800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr4:152204400-152205800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr4:152204400-152205800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr4:152204400-152210200	Weak transcription	HepG2	liver
29	chr4:152204400-152215600	Weak transcription	Right Atrium	heart
30	chr4:152204600-152206000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:152205000-152205400	ZNF genes & repeats	Fetal Intestine Large	intestine
32	chr4:152205000-152205600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr4:152205000-152205800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr4:152205000-152206000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
35	chr4:152205200-152205600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr4:152205200-152205800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr4:152205200-152205800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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