Variant report

Variant	rs13431014
Chromosome Location	chr2:208867004-208867005
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10497895	0.86[CEU][hapmap]
rs12464255	0.86[CEU][hapmap]
rs12465052	0.86[CEU][hapmap]
rs12465292	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12471242	0.93[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1452521	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17459574	0.93[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17459758	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17537670	0.93[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17538061	0.86[CEU][hapmap]
rs28463196	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4502388	0.93[CEU][hapmap];0.86[YRI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62190863	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62190896	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62190898	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62190900	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62190904	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62190905	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62192772	0.81[EUR][1000 genomes]
rs62192773	0.81[EUR][1000 genomes]
rs6435402	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6740362	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72969822	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7565251	0.84[CEU][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7588162	0.93[CEU][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs930745	0.93[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]

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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208836000-208878400	Weak transcription	Fetal Kidney	kidney
2	chr2:208842200-208867600	Weak transcription	Thymus	Thymus
3	chr2:208842200-208871200	Weak transcription	Esophagus	oesophagus
4	chr2:208842400-208867200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:208842400-208868200	Weak transcription	Dnd41	blood
6	chr2:208843600-208871200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:208852400-208867200	Weak transcription	Psoas Muscle	Psoas
8	chr2:208852400-208868000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:208853800-208868000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:208854200-208889400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:208856600-208882000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:208857000-208877200	Weak transcription	Pancreas	Pancrea
13	chr2:208857200-208888000	Weak transcription	Fetal Brain Male	brain
14	chr2:208858400-208871800	Weak transcription	HSMM	muscle
15	chr2:208858600-208870600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:208858600-208870600	Weak transcription	NHEK	skin
17	chr2:208858600-208871200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:208858800-208878600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:208859400-208867200	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:208861000-208874800	Weak transcription	Small Intestine	intestine
21	chr2:208862000-208867400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:208862200-208867400	Strong transcription	Primary B cells from peripheral blood	blood
23	chr2:208862400-208867400	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:208862800-208867400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr2:208862800-208872800	Weak transcription	HUVEC	blood vessel
26	chr2:208862800-208877400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:208863400-208870600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:208863400-208870600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:208864000-208867400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:208864200-208867400	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr2:208864800-208867400	Strong transcription	Primary T cells from cord blood	blood
32	chr2:208864800-208867400	Strong transcription	Spleen	Spleen
33	chr2:208865200-208867800	Weak transcription	HSMMtube	muscle
34	chr2:208865200-208871200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr2:208865200-208871600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:208865200-208889000	Weak transcription	Brain Substantia Nigra	brain
37	chr2:208865400-208867800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:208865400-208878400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr2:208865400-208878800	Weak transcription	Brain Anterior Caudate	brain
40	chr2:208865600-208867200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:208865600-208877800	Weak transcription	HepG2	liver
42	chr2:208865600-208878400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:208866000-208867800	Enhancers	Fetal Heart	heart
44	chr2:208866000-208868000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:208866000-208868600	Weak transcription	Placenta	Placenta
46	chr2:208866000-208870400	Weak transcription	HMEC	breast
47	chr2:208866000-208871800	Weak transcription	NHDF-Ad	bronchial
48	chr2:208866000-208878200	Weak transcription	Lung	lung
49	chr2:208866200-208867400	Enhancers	Right Atrium	heart
50	chr2:208866200-208868000	Enhancers	Stomach Mucosa	stomach

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