Variant report

Variant	rs13432998
Chromosome Location	chr2:48547751-48547752
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48545774..48548252-chr2:48556563..48558332,2	K562	blood:
2	chr2:48536399..48538424-chr2:48545720..48548096,2	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10153773	1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs10174717	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10180295	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10186237	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10193072	0.94[ASN][1000 genomes]
rs10199431	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10208124	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10454133	0.85[MEX][hapmap]
rs10495951	0.87[JPT][hapmap]
rs10495952	0.87[JPT][hapmap]
rs11676168	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11679523	0.87[JPT][hapmap]
rs11680916	0.91[JPT][hapmap]
rs11682044	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11685861	0.81[CEU][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];0.85[MEX][hapmap];0.85[MKK][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes]
rs11688481	0.87[JPT][hapmap]
rs11690690	0.87[JPT][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes]
rs11690748	0.87[JPT][hapmap]
rs11690845	0.87[JPT][hapmap]
rs12616792	0.83[ASN][1000 genomes]
rs12713008	0.83[ASN][1000 genomes]
rs12713009	0.83[ASN][1000 genomes]
rs13383364	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13385535	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13386751	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13387171	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13388291	0.94[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];0.93[TSI][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13392004	0.80[AMR][1000 genomes]
rs13426834	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17037289	0.87[JPT][hapmap]
rs17037298	0.87[JPT][hapmap]
rs17855177	0.87[JPT][hapmap]
rs2471405	0.81[ASN][1000 genomes]
rs28806843	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28841370	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4290706	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4344965	0.83[GIH][hapmap];0.87[JPT][hapmap];0.85[MEX][hapmap];0.82[AMR][1000 genomes]
rs4411759	0.94[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.87[LWK][hapmap];0.90[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4547573	0.85[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.92[ASN][1000 genomes]
rs4641990	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs56163539	0.81[AMR][1000 genomes]
rs56352447	0.94[ASN][1000 genomes]
rs57668696	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58660534	0.87[ASN][1000 genomes]
rs59264464	0.90[ASN][1000 genomes]
rs59412192	0.90[ASN][1000 genomes]
rs59761994	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60677957	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62136987	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62137001	0.87[ASN][1000 genomes]
rs62137002	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62137003	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62137005	0.87[ASN][1000 genomes]
rs62137006	0.87[ASN][1000 genomes]
rs62137007	0.87[ASN][1000 genomes]
rs62137008	0.84[ASN][1000 genomes]
rs62137009	0.84[ASN][1000 genomes]
rs62137015	0.82[AMR][1000 genomes]
rs62138801	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6545027	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6545028	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6545029	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6545030	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6545034	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6545035	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6545036	0.89[ASW][hapmap];0.81[CEU][hapmap];0.85[GIH][hapmap];0.85[LWK][hapmap];0.84[MEX][hapmap];0.95[MKK][hapmap];0.81[TSI][hapmap];0.86[AMR][1000 genomes]
rs6705802	0.87[JPT][hapmap];0.83[LWK][hapmap]
rs6712029	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.90[TSI][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6718068	0.87[JPT][hapmap]
rs6743757	0.80[CEU][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap];0.85[MEX][hapmap];0.88[TSI][hapmap];0.86[AMR][1000 genomes]
rs6749773	0.80[AMR][1000 genomes]
rs6757206	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72818493	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72820405	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72887649	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7340322	0.84[ASN][1000 genomes]
rs7562069	0.87[JPT][hapmap];0.85[MEX][hapmap];0.86[AMR][1000 genomes]
rs7562816	0.87[JPT][hapmap];0.87[AMR][1000 genomes]
rs7566239	0.87[JPT][hapmap]
rs7568960	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7574125	0.80[ASN][1000 genomes]
rs7576964	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs7577237	0.87[JPT][hapmap]
rs7579932	0.86[JPT][hapmap];0.85[AMR][1000 genomes]
rs7600794	0.81[CEU][hapmap];0.87[JPT][hapmap];0.81[YRI][hapmap];0.88[AMR][1000 genomes]
rs7606104	0.81[CEU][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];0.85[MEX][hapmap];0.83[TSI][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes]
rs9309152	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv874001	chr2:48534363-48624007	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv874002	chr2:48547751-48610367	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48543200-48553200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:48543400-48547800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:48543400-48551800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:48543400-48552000	Weak transcription	Stomach Mucosa	stomach
5	chr2:48543400-48553000	Weak transcription	Lung	lung
6	chr2:48543400-48553000	Weak transcription	Psoas Muscle	Psoas
7	chr2:48543400-48568600	Weak transcription	HSMM	muscle
8	chr2:48543600-48548000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:48543600-48548000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:48543600-48548200	Enhancers	Primary hematopoietic stem cells	blood
11	chr2:48543600-48548200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr2:48543600-48548400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:48543600-48549200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:48543600-48550000	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr2:48543600-48550200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:48543600-48551000	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr2:48543600-48552000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr2:48543600-48552200	Weak transcription	Osteobl	bone
19	chr2:48543600-48553200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:48543600-48553400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:48543600-48554400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:48543600-48555400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:48543600-48556600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:48543600-48559400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr2:48543600-48561000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:48543600-48570600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:48543800-48550000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:48544000-48549800	Enhancers	Primary B cells from peripheral blood	blood
29	chr2:48544000-48550000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr2:48544200-48549000	Enhancers	Primary B cells from cord blood	blood
31	chr2:48544200-48549400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:48544200-48550000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:48544200-48559600	Weak transcription	Fetal Kidney	kidney
34	chr2:48544400-48549400	Enhancers	Brain Hippocampus Middle	brain
35	chr2:48544400-48549800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr2:48544400-48551200	Weak transcription	HUVEC	blood vessel
37	chr2:48544400-48552000	Weak transcription	Hela-S3	cervix
38	chr2:48544400-48556200	Weak transcription	NHDF-Ad	bronchial
39	chr2:48544400-48558600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:48544400-48570400	Weak transcription	NHEK	skin
41	chr2:48544400-48570800	Weak transcription	HMEC	breast
42	chr2:48544600-48558600	Weak transcription	Spleen	Spleen
43	chr2:48544600-48564400	Weak transcription	Fetal Intestine Small	intestine
44	chr2:48544800-48559400	Weak transcription	Right Atrium	heart
45	chr2:48545000-48547800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:48545000-48548400	Enhancers	Primary T cells from cord blood	blood
47	chr2:48545200-48551000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr2:48545600-48548200	Enhancers	Liver	Liver
49	chr2:48545800-48552000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:48546000-48547800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links