Variant report

Variant	rs1729964
Chromosome Location	chr3:98283375-98283376
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:98282871..98285029-chr3:98286675..98289199,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1381085	0.91[AFR][1000 genomes]
rs1461161	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1675511	0.83[CEU][hapmap]
rs1729996	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2204745	0.86[AFR][1000 genomes]
rs2316127	0.93[AFR][1000 genomes]
rs57654067	0.85[AFR][1000 genomes]
rs6797035	0.91[AFR][1000 genomes]
rs9850648	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528056	chr3:98101101-98317836	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv520503	chr3:98102801-98317836	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv834775	chr3:98170059-98367552	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv3390386	chr3:98174549-98579953	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98273600-98292600	Weak transcription	K562	blood
2	chr3:98279600-98286000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr3:98280400-98285800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr3:98280400-98287000	Enhancers	Primary T cells fromperipheralblood	blood
5	chr3:98280600-98285000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr3:98280600-98286800	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr3:98280600-98287000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr3:98280600-98288000	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr3:98280800-98283400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:98280800-98283400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:98280800-98284400	Enhancers	HSMM	muscle
12	chr3:98280800-98285000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr3:98280800-98287200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr3:98280800-98288200	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr3:98280800-98288200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr3:98281200-98284200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:98281200-98285800	Enhancers	Primary T cells from cord blood	blood
18	chr3:98281200-98286600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr3:98281200-98296200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr3:98281400-98295800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:98282000-98285800	Enhancers	Dnd41	blood
22	chr3:98282400-98283400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:98282400-98283400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr3:98282400-98283800	Enhancers	HMEC	breast
25	chr3:98282600-98288200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr3:98282800-98283400	Weak transcription	Primary B cells from cord blood	blood
27	chr3:98282800-98283800	Enhancers	Primary B cells from peripheral blood	blood
28	chr3:98283000-98283800	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr3:98283000-98284200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:98283000-98284600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr3:98283000-98292200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:98283000-98295200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:98283200-98283400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr3:98283200-98283400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr3:98283200-98283400	Enhancers	Spleen	Spleen
36	chr3:98283200-98285200	Enhancers	Fetal Thymus	thymus
37	chr3:98283200-98285800	Flanking Active TSS	GM12878-XiMat	blood

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