Variant report

Variant	rs7568960
Chromosome Location	chr2:48511434-48511435
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48507670..48509520-chr2:48510001..48512667,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10153773	0.95[CHB][hapmap];0.87[JPT][hapmap]
rs10174717	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10180295	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10186237	0.93[CEU][hapmap];0.95[CHB][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10193072	0.92[ASN][1000 genomes]
rs10199431	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.93[YRI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10208124	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10454133	0.82[CEU][hapmap]
rs11676168	0.92[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11682044	0.85[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.92[YRI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11685861	0.92[CEU][hapmap];0.92[YRI][hapmap];0.82[EUR][1000 genomes]
rs11690690	0.89[YRI][hapmap];0.80[EUR][1000 genomes]
rs12616792	0.97[ASN][1000 genomes]
rs12713008	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12713009	0.81[ASN][1000 genomes]
rs13383364	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13385535	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13386751	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13387171	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13388291	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13426834	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13432998	0.89[CEU][hapmap];0.95[CHB][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2471403	0.90[AFR][1000 genomes]
rs2471405	0.95[ASN][1000 genomes]
rs28806843	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28841370	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4290706	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4344965	0.85[CEU][hapmap]
rs4411759	0.92[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4547573	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4641990	0.95[CHB][hapmap];0.83[JPT][hapmap];0.82[YRI][hapmap];0.82[ASN][1000 genomes]
rs56352447	0.85[ASN][1000 genomes]
rs57668696	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58660534	0.83[ASN][1000 genomes]
rs59264464	0.83[ASN][1000 genomes]
rs59412192	0.83[ASN][1000 genomes]
rs59761994	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60677957	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62136987	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62137001	0.83[ASN][1000 genomes]
rs62137002	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62137003	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62137005	0.83[ASN][1000 genomes]
rs62137006	0.85[ASN][1000 genomes]
rs62137007	0.85[ASN][1000 genomes]
rs62137008	0.82[ASN][1000 genomes]
rs62137009	0.82[ASN][1000 genomes]
rs62138801	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6545026	0.92[YRI][hapmap]
rs6545027	0.89[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6545028	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6545029	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6545030	0.96[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.93[YRI][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6545034	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6545035	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6545036	0.92[CEU][hapmap];0.96[YRI][hapmap];0.81[EUR][1000 genomes]
rs6705802	0.88[YRI][hapmap]
rs6712029	0.96[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.92[YRI][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6743757	0.92[CEU][hapmap]
rs6757206	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72818493	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72820405	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72887649	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7340322	0.98[ASN][1000 genomes]
rs7562069	0.85[CEU][hapmap]
rs7566239	0.93[YRI][hapmap]
rs7576964	0.92[YRI][hapmap]
rs7577237	0.96[YRI][hapmap]
rs7579932	0.89[CEU][hapmap];0.93[YRI][hapmap]
rs7600794	0.93[CEU][hapmap];0.89[YRI][hapmap]
rs7606104	0.92[CEU][hapmap];0.92[YRI][hapmap];0.80[EUR][1000 genomes]
rs9309152	0.84[EUR][1000 genomes];0.81[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	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48505200-48511600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:48505400-48513600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr2:48506000-48539000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:48509600-48511600	Weak transcription	Placenta	Placenta
5	chr2:48509600-48511600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:48510200-48511600	Weak transcription	K562	blood
7	chr2:48510400-48513000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:48510600-48512000	Enhancers	Brain Germinal Matrix	brain
9	chr2:48510800-48511600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:48510800-48511600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr2:48510800-48512200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:48510800-48512600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr2:48511000-48512000	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr2:48511000-48512200	Enhancers	Fetal Brain Female	brain
15	chr2:48511200-48512600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:48511200-48512600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr2:48511200-48513000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:48511400-48511800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr2:48511400-48512600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr2:48511400-48512800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr2:48511400-48512800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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