Variant report

Variant	rs10820934
Chromosome Location	chr9:94796491-94796492
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:94796191..94798036-chr9:94830932..94833373,2	K562	blood:
2	chr9:94795340..94797620-chr9:94880079..94882545,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10761137	0.82[TSI][hapmap]
rs10820921	0.90[CEU][hapmap]
rs10820922	0.90[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes]
rs10820928	0.90[CEU][hapmap];0.85[CHB][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10820933	0.94[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10820939	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10820942	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10992161	0.82[ASW][hapmap];0.90[CEU][hapmap];1.00[GIH][hapmap];0.81[TSI][hapmap]
rs10992196	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992208	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992218	0.95[CEU][hapmap];0.85[CHB][hapmap];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10992219	0.95[CEU][hapmap];0.85[CHB][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10992224	1.00[ASW][hapmap];0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[MKK][hapmap];0.88[TSI][hapmap];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11790093	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11790991	1.00[ASW][hapmap];0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.88[MEX][hapmap];0.85[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12377635	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12380093	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12554018	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12554679	0.85[CEU][hapmap]
rs1609292	0.82[TSI][hapmap]
rs17749165	0.85[CHB][hapmap];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1892263	0.90[CEU][hapmap];1.00[GIH][hapmap];0.81[TSI][hapmap]
rs1919101	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55939422	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56272949	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56280154	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62565755	0.87[AMR][1000 genomes]
rs62567925	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62567926	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62567930	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62567931	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7034006	0.85[CHB][hapmap];1.00[GIH][hapmap]
rs7038397	1.00[GIH][hapmap]
rs72746299	0.89[AMR][1000 genomes]
rs72748323	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7857759	1.00[ASW][hapmap];0.95[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.88[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7871522	0.85[CHB][hapmap];1.00[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv831653	chr9:94692454-94867542	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	esv3482526	chr9:94794771-94797138	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
7	esv3482527	chr9:94794771-94797138	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10820934	ANKRD19	cis	cerebellum	SCAN
rs10820934	SPTLC1	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94791200-94804400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr9:94791400-94797400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:94791400-94797800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr9:94791400-94805400	Weak transcription	Psoas Muscle	Psoas
5	chr9:94791800-94797800	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr9:94791800-94798600	Strong transcription	Duodenum Mucosa	Duodenum
7	chr9:94792200-94797800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr9:94792200-94801000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr9:94792200-94804000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr9:94792400-94801000	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr9:94792400-94801200	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr9:94792400-94801800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr9:94792600-94797000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:94792600-94800400	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr9:94792600-94801200	Strong transcription	Liver	Liver
16	chr9:94792800-94797000	Strong transcription	NHDF-Ad	bronchial
17	chr9:94792800-94797800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr9:94792800-94799600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:94792800-94800400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr9:94792800-94802000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr9:94792800-94802400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr9:94792800-94804400	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr9:94793000-94803200	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr9:94793200-94804200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr9:94793400-94801200	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr9:94793400-94801400	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr9:94793600-94797400	Strong transcription	Adipose Nuclei	Adipose
28	chr9:94793600-94797600	Strong transcription	Brain Substantia Nigra	brain
29	chr9:94793600-94801000	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr9:94793600-94802200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr9:94793600-94804200	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr9:94793600-94805400	Weak transcription	Small Intestine	intestine
33	chr9:94793800-94797200	Strong transcription	Placenta	Placenta
34	chr9:94793800-94798600	Weak transcription	Fetal Brain Male	brain
35	chr9:94793800-94801400	Strong transcription	Fetal Muscle Trunk	muscle
36	chr9:94794000-94797000	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr9:94794000-94801600	Strong transcription	Primary B cells from cord blood	blood
38	chr9:94794200-94796600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr9:94794200-94801000	Strong transcription	Brain Hippocampus Middle	brain
40	chr9:94794200-94801000	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr9:94794200-94801000	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr9:94794200-94801200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr9:94794200-94801200	Strong transcription	GM12878-XiMat	blood
44	chr9:94794200-94801400	Strong transcription	NHEK	skin
45	chr9:94794200-94801600	Strong transcription	Osteobl	bone
46	chr9:94794200-94804600	Weak transcription	Fetal Heart	heart
47	chr9:94794400-94797200	Strong transcription	NHLF	lung
48	chr9:94794400-94798600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr9:94794400-94801000	Strong transcription	Fetal Brain Female	brain
50	chr9:94794400-94801200	Strong transcription	Primary B cells from peripheral blood	blood

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