Variant report

Variant	rs4964826
Chromosome Location	chr12:105015544-105015545
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	chr12:105011180..105012776-chr12:105013047..105016022,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10507177	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10778346	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap]
rs10861256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11112132	0.91[ASN][1000 genomes]
rs11112136	0.83[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1541795	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1896563	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68011462	0.91[EUR][1000 genomes]
rs7133744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304590	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs875679	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1050695	chr12:105000981-105125161	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv541589	chr12:105000981-105125161	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4964826	UTP20	cis	parietal	SCAN

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104989400-105030600	Strong transcription	Dnd41	blood
2	chr12:104998800-105031400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:104999000-105026800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:105000000-105020400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:105000000-105021000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:105000400-105019800	Weak transcription	HMEC	breast
7	chr12:105000400-105026000	Weak transcription	NHLF	lung
8	chr12:105003600-105020200	Weak transcription	NHEK	skin
9	chr12:105005800-105019800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:105006000-105016400	Weak transcription	A549	lung
11	chr12:105006000-105028200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:105006200-105034800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:105006600-105022600	Weak transcription	Primary B cells from cord blood	blood
14	chr12:105007400-105024400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:105007800-105015600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr12:105008600-105016400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:105008600-105017600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:105009000-105017000	Weak transcription	Esophagus	oesophagus
19	chr12:105009000-105024400	Weak transcription	Thymus	Thymus
20	chr12:105009400-105017600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:105009400-105019400	Weak transcription	HSMMtube	muscle
22	chr12:105009400-105019600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:105009400-105021200	Weak transcription	Primary T cells from cord blood	blood
24	chr12:105009400-105028200	Weak transcription	Placenta	Placenta
25	chr12:105010000-105017400	Weak transcription	Fetal Brain Female	brain
26	chr12:105010200-105017400	Weak transcription	Fetal Brain Male	brain
27	chr12:105010200-105031600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr12:105010800-105017600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:105011000-105026200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr12:105012400-105016600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr12:105012800-105015600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr12:105013000-105026400	Weak transcription	Fetal Thymus	thymus
33	chr12:105013200-105016400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:105013200-105020600	Weak transcription	Aorta	Aorta
35	chr12:105013400-105016400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:105013400-105016600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:105013400-105020600	Weak transcription	Right Ventricle	heart
38	chr12:105013600-105016600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr12:105013800-105015600	Enhancers	HUVEC	blood vessel
40	chr12:105013800-105016600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr12:105013800-105016600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr12:105013800-105037000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr12:105014000-105015600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr12:105014000-105026400	Weak transcription	Brain Angular Gyrus	brain
45	chr12:105014200-105020800	Weak transcription	Brain Hippocampus Middle	brain
46	chr12:105014600-105016400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:105014800-105015600	Enhancers	Spleen	Spleen
48	chr12:105014800-105015800	Enhancers	Right Atrium	heart
49	chr12:105014800-105017600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:105015000-105015600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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