Variant report

Variant	rs4383974
Chromosome Location	chr8:9619348-9619349
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9618867..9619594-chr8:9688240..9688751,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10087073	0.87[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10095004	0.81[CEU][hapmap];0.91[CHB][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10096462	0.80[JPT][hapmap]
rs10101132	0.81[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12541709	0.85[CEU][hapmap]
rs28693548	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4840437	0.82[CHB][hapmap]
rs4841201	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4841207	0.90[CEU][hapmap];0.89[JPT][hapmap];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6601347	0.89[EUR][1000 genomes]
rs6601349	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6989782	0.95[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7004915	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7006003	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7009721	0.95[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7014007	0.95[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7459728	0.89[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.92[EUR][1000 genomes]
rs7842207	0.87[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7842564	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7845986	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9550000-9627600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:9557400-9632200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:9566000-9639400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:9570000-9638600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:9585200-9627600	Weak transcription	Hela-S3	cervix
6	chr8:9588600-9626000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:9603000-9638800	Weak transcription	Stomach Mucosa	stomach
8	chr8:9604200-9637200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:9605400-9628200	Strong transcription	Primary T cells from cord blood	blood
10	chr8:9607400-9623200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:9608400-9625400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:9608800-9626000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:9609400-9621200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:9609600-9634600	Weak transcription	Colonic Mucosa	Colon
15	chr8:9611600-9620800	Weak transcription	HMEC	breast
16	chr8:9611800-9620800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:9611800-9625200	Weak transcription	Right Ventricle	heart
18	chr8:9616000-9619600	Weak transcription	HUVEC	blood vessel
19	chr8:9616000-9634400	Weak transcription	Fetal Heart	heart
20	chr8:9616600-9627800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr8:9616800-9619400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:9616800-9619400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr8:9616800-9620800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:9616800-9621000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr8:9616800-9621200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:9616800-9621200	Weak transcription	Aorta	Aorta
27	chr8:9616800-9623200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:9616800-9623200	Weak transcription	Gastric	stomach
29	chr8:9616800-9623800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:9616800-9625400	Weak transcription	Esophagus	oesophagus
31	chr8:9616800-9625600	Weak transcription	Small Intestine	intestine
32	chr8:9616800-9632200	Weak transcription	Pancreas	Pancrea
33	chr8:9617000-9619600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr8:9617000-9623200	Weak transcription	Spleen	Spleen
35	chr8:9617000-9623600	Weak transcription	NHLF	lung
36	chr8:9617600-9620000	Weak transcription	Fetal Intestine Small	intestine
37	chr8:9618000-9619800	Strong transcription	K562	blood
38	chr8:9618000-9628600	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr8:9618400-9628600	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr8:9618400-9628800	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr8:9618400-9637200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:9618600-9619600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:9618600-9620000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:9618600-9620000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr8:9618600-9620800	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr8:9618600-9621600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:9618600-9622800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
48	chr8:9618600-9626400	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr8:9618600-9626600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr8:9618600-9628400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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