Variant report

Variant	rs10958514
Chromosome Location	chr8:57881921-57881922
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	chr8:57879369..57881990-chr8:57882038..57884592,4	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10003	0.90[ASW][hapmap];0.83[CEU][hapmap]
rs1044731	0.90[ASW][hapmap];0.83[CEU][hapmap]
rs10504211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10504212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808910	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10958515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11778484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11779511	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12056416	0.83[CEU][hapmap]
rs12678538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13258916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13275472	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13277865	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1396115	0.91[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1396116	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1396117	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1605556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16921462	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16921483	0.83[CEU][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes]
rs16921485	0.82[AFR][1000 genomes]
rs2135987	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][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];0.84[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34020186	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36065736	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4738558	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][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];0.88[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55659168	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs967930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029443	chr8:57748114-58057656	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv3430321	chr8:57858417-58055129	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:57866400-57902600	Weak transcription	Pancreas	Pancrea
2	chr8:57866800-57890000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:57868800-57895800	Weak transcription	Spleen	Spleen
4	chr8:57869000-57896000	Weak transcription	Esophagus	oesophagus
5	chr8:57870800-57892000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:57871200-57888400	Weak transcription	HSMMtube	muscle
7	chr8:57872400-57883200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:57872600-57882400	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr8:57872600-57883200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr8:57872800-57882600	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr8:57872800-57885400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:57872800-57891800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:57872800-57892800	Strong transcription	Dnd41	blood
14	chr8:57873200-57882000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr8:57874400-57882600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr8:57874400-57896000	Weak transcription	Right Ventricle	heart
17	chr8:57874600-57882000	Strong transcription	Fetal Thymus	thymus
18	chr8:57874600-57882200	Strong transcription	HSMM	muscle
19	chr8:57874600-57882400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr8:57874600-57890000	Weak transcription	Brain Angular Gyrus	brain
21	chr8:57874800-57882000	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:57874800-57889400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr8:57874800-57892000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:57874800-57896000	Weak transcription	Small Intestine	intestine
25	chr8:57874800-57903800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr8:57874800-57904400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr8:57875200-57892400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr8:57876600-57889800	Weak transcription	Fetal Kidney	kidney
29	chr8:57876600-57903200	Weak transcription	Fetal Brain Male	brain
30	chr8:57876600-57904000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr8:57877200-57905200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:57877400-57889800	Weak transcription	Brain Anterior Caudate	brain
33	chr8:57878400-57887000	Weak transcription	HMEC	breast
34	chr8:57878800-57884400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr8:57878800-57885400	Weak transcription	Fetal Heart	heart
36	chr8:57878800-57889200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr8:57878800-57890000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr8:57878800-57890000	Weak transcription	Brain Hippocampus Middle	brain
39	chr8:57878800-57890000	Weak transcription	NHDF-Ad	bronchial
40	chr8:57878800-57890200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:57878800-57893400	Weak transcription	Right Atrium	heart
42	chr8:57878800-57895800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr8:57879000-57889200	Weak transcription	Brain Germinal Matrix	brain
44	chr8:57879000-57889800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr8:57879000-57889800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr8:57879000-57889800	Weak transcription	NHLF	lung
47	chr8:57879000-57895800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:57879000-57896000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:57879000-57904600	Weak transcription	Fetal Intestine Small	intestine
50	chr8:57879400-57888600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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