Variant report

Variant	rs2702346
Chromosome Location	chr4:56845771-56845772
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10003765	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2593067	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593084	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2593087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2611824	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2611825	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2611827	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2702323	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2702326	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2702331	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2702343	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2702350	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2702358	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs41467652	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[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	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv427681	chr4:56651921-56908209	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56815800-56875000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:56816200-56846600	Weak transcription	Right Ventricle	heart
3	chr4:56816200-56873400	Weak transcription	Pancreas	Pancrea
4	chr4:56816200-56884200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:56816200-56887800	Weak transcription	Gastric	stomach
6	chr4:56816400-56866000	Weak transcription	Spleen	Spleen
7	chr4:56816400-56890800	Weak transcription	Colon Smooth Muscle	Colon
8	chr4:56816600-56851800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:56816600-56852000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr4:56816600-56865800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr4:56816600-56890600	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:56816600-56896400	Weak transcription	Fetal Heart	heart
13	chr4:56816800-56865800	Weak transcription	Small Intestine	intestine
14	chr4:56816800-56869800	Weak transcription	HepG2	liver
15	chr4:56817400-56885400	Weak transcription	NHDF-Ad	bronchial
16	chr4:56817800-56846200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr4:56817800-56854600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:56818200-56853800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:56819000-56897400	Weak transcription	HSMMtube	muscle
20	chr4:56819200-56859600	Weak transcription	Fetal Kidney	kidney
21	chr4:56819200-56890600	Weak transcription	NHLF	lung
22	chr4:56820600-56892400	Weak transcription	Hela-S3	cervix
23	chr4:56822200-56849800	Weak transcription	Fetal Brain Male	brain
24	chr4:56822200-56873600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr4:56822400-56865800	Weak transcription	Psoas Muscle	Psoas
26	chr4:56823600-56893800	Weak transcription	HMEC	breast
27	chr4:56824000-56846600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr4:56824600-56846800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr4:56824600-56846800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:56825200-56851600	Weak transcription	Lung	lung
31	chr4:56825200-56865800	Weak transcription	Aorta	Aorta
32	chr4:56825400-56845800	Weak transcription	Fetal Muscle Leg	muscle
33	chr4:56825600-56870000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr4:56826400-56845800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr4:56826800-56849400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr4:56827000-56846000	Weak transcription	HUVEC	blood vessel
37	chr4:56827800-56854200	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr4:56828200-56854600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr4:56828200-56884200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:56828600-56851800	Weak transcription	Fetal Intestine Small	intestine
41	chr4:56828800-56852000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:56829200-56881400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:56829400-56865600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:56829600-56890600	Weak transcription	A549	lung
45	chr4:56831800-56855200	Strong transcription	Primary T cells from cord blood	blood
46	chr4:56832200-56846800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr4:56832400-56848400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:56832400-56865800	Weak transcription	Liver	Liver
49	chr4:56832600-56854800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:56833000-56877200	Weak transcription	Rectal Mucosa Donor 31	rectum

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