Variant report

Variant	rs10512220
Chromosome Location	chr9:94806331-94806332
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94803091..94807436-chr9:94808499..94811192,5	K562	blood:
2	chr9:94800752..94804728-chr9:94805070..94807869,3	K562	blood:
3	chr9:94805829..94808024-chr9:94825130..94827991,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10116249	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10118072	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10124760	0.83[EUR][1000 genomes]
rs10733743	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10739924	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10739925	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10761138	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10761143	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10820931	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10820936	0.82[JPT][hapmap]
rs10820937	0.82[JPT][hapmap]
rs10992234	0.81[JPT][hapmap]
rs12340044	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1316268	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1881391	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs1892268	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1919100	0.82[EUR][1000 genomes]
rs1964170	0.87[CHB][hapmap]
rs1970121	0.82[JPT][hapmap]
rs2297568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2312739	0.82[EUR][1000 genomes]
rs2895201	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3847308	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3858095	0.87[CHB][hapmap]
rs6479387	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs6479388	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6479389	0.88[CEU][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6479400	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]
rs6479402	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7020136	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7023075	1.00[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs7029539	0.82[JPT][hapmap]
rs7034357	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7034363	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7035867	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7037255	0.84[CEU][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7037848	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7038017	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7041193	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7042102	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7046430	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7047326	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7048699	0.88[CEU][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7848874	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7848987	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7852032	0.89[CEU][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7856177	0.82[JPT][hapmap]
rs7859570	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7859689	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7860518	0.86[JPT][hapmap]
rs7863167	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7867072	0.88[CEU][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7869504	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7871444	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv982320	chr9:94799706-94821700	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94802800-94810000	Strong transcription	Fetal Muscle Trunk	muscle
2	chr9:94803000-94806800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr9:94803000-94807000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr9:94803000-94807200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
5	chr9:94803000-94807400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:94803000-94807400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:94803200-94806800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
8	chr9:94803200-94807200	ZNF genes & repeats	Primary B cells from cord blood	blood
9	chr9:94803200-94807200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
10	chr9:94803200-94807400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr9:94803200-94809600	Strong transcription	A549	lung
12	chr9:94803200-94810400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:94803200-94813000	Strong transcription	HSMM	muscle
14	chr9:94803400-94807600	Strong transcription	Skeletal Muscle Male	skeletal muscle
15	chr9:94803400-94821200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr9:94803800-94806400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr9:94803800-94806800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr9:94803800-94807000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr9:94803800-94807200	ZNF genes & repeats	Primary T cells from cord blood	blood
20	chr9:94803800-94807200	ZNF genes & repeats	GM12878-XiMat	blood
21	chr9:94803800-94807600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr9:94803800-94807600	ZNF genes & repeats	Dnd41	blood
23	chr9:94804000-94807200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
24	chr9:94804000-94807600	Strong transcription	Placenta Amnion	Placenta Amnion
25	chr9:94804000-94812800	Strong transcription	HUVEC	blood vessel
26	chr9:94804200-94806400	ZNF genes & repeats	NHEK	skin
27	chr9:94804200-94807600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr9:94804200-94809800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
29	chr9:94804200-94812800	Strong transcription	NH-A	brain
30	chr9:94804200-94813000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr9:94804200-94813000	Strong transcription	Fetal Thymus	thymus
32	chr9:94804400-94806600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
33	chr9:94804400-94810000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr9:94804400-94812800	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr9:94804400-94813000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
36	chr9:94804400-94813400	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr9:94804600-94806600	Strong transcription	Fetal Heart	heart
38	chr9:94804600-94807400	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr9:94804600-94807600	Strong transcription	Brain Hippocampus Middle	brain
40	chr9:94804600-94807800	Strong transcription	Stomach Smooth Muscle	stomach
41	chr9:94804600-94810800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr9:94804600-94812800	Strong transcription	Osteobl	bone
43	chr9:94804600-94817600	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr9:94804800-94806600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr9:94804800-94807400	Strong transcription	Brain Substantia Nigra	brain
46	chr9:94804800-94807600	Strong transcription	Brain Germinal Matrix	brain
47	chr9:94804800-94808800	Strong transcription	NHLF	lung
48	chr9:94804800-94809600	Strong transcription	Rectal Smooth Muscle	rectum
49	chr9:94804800-94810000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr9:94804800-94810200	Strong transcription	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links