Variant report

Variant	rs2120068
Chromosome Location	chr13:76348574-76348575
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1036869	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2031241	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2120067	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4885349	0.81[EUR][1000 genomes]
rs7139507	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7320900	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7321748	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7322414	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7326714	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7331429	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7992526	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9530467	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs9544043	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9573658	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9573659	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][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	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76323800-76356600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:76338000-76356800	Weak transcription	Brain Anterior Caudate	brain
3	chr13:76338000-76362800	Weak transcription	Fetal Stomach	stomach
4	chr13:76338600-76356600	Weak transcription	Left Ventricle	heart
5	chr13:76338800-76371000	Weak transcription	Fetal Thymus	thymus
6	chr13:76340000-76363600	Weak transcription	Thymus	Thymus
7	chr13:76340200-76349200	Enhancers	NHDF-Ad	bronchial
8	chr13:76341800-76352800	Weak transcription	Primary T cells from cord blood	blood
9	chr13:76342400-76357800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr13:76343000-76349200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:76343400-76370800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr13:76344800-76356800	Weak transcription	Fetal Lung	lung
13	chr13:76345200-76351000	Weak transcription	Placenta	Placenta
14	chr13:76345800-76352800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr13:76346200-76349000	Enhancers	NHLF	lung
16	chr13:76346600-76349800	Weak transcription	HUVEC	blood vessel
17	chr13:76346800-76349000	Weak transcription	Fetal Heart	heart
18	chr13:76346800-76349800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr13:76346800-76351000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr13:76346800-76361600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr13:76347000-76348800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr13:76347200-76349800	Weak transcription	Small Intestine	intestine
23	chr13:76347400-76348600	Genic enhancers	Osteobl	bone
24	chr13:76347400-76349800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr13:76347400-76350600	Weak transcription	A549	lung
26	chr13:76347400-76358000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr13:76347400-76361400	Weak transcription	HMEC	breast
28	chr13:76347600-76353600	Weak transcription	Esophagus	oesophagus
29	chr13:76347800-76349200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr13:76347800-76350400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr13:76347800-76351000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr13:76347800-76352600	Weak transcription	Hela-S3	cervix
33	chr13:76347800-76356400	Weak transcription	NH-A	brain
34	chr13:76347800-76356600	Weak transcription	HSMMtube	muscle
35	chr13:76347800-76356800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr13:76347800-76361400	Weak transcription	Gastric	stomach
37	chr13:76348200-76348600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr13:76348200-76350400	Weak transcription	Fetal Intestine Small	intestine
39	chr13:76348200-76351000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr13:76348200-76354400	Weak transcription	Fetal Intestine Large	intestine
41	chr13:76348400-76349000	Enhancers	Stomach Mucosa	stomach
42	chr13:76348400-76349200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr13:76348400-76351800	Strong transcription	HSMM	muscle
44	chr13:76348400-76352800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr13:76348400-76353000	Weak transcription	HepG2	liver
46	chr13:76348400-76356600	Weak transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links