Variant report

Variant	rs28688196
Chromosome Location	chr3:67498949-67498950
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	chr3:67498464..67501413-chr3:67503941..67505935,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13319623	0.97[AFR][1000 genomes]
rs13322044	0.85[AFR][1000 genomes]
rs28669229	0.85[AFR][1000 genomes]
rs28729332	0.97[AFR][1000 genomes]
rs9815368	0.85[AFR][1000 genomes]
rs9820317	0.85[AFR][1000 genomes]
rs9828219	1.00[AFR][1000 genomes]
rs9840334	0.85[AFR][1000 genomes]
rs9843840	0.85[AFR][1000 genomes]
rs9869174	0.97[AFR][1000 genomes]
rs9879448	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007093	chr3:67113534-67602973	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv470638	chr3:67367341-67814738	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv460700	chr3:67393629-67712970	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv590560	chr3:67393629-67712970	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv834719	chr3:67396626-67589852	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv508221	chr3:67487240-67509429	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv3860	chr3:67493286-67517941	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3336755	chr3:67498869-67499342	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67435600-67509800	Weak transcription	Ovary	ovary
2	chr3:67435600-67534200	Weak transcription	Aorta	Aorta
3	chr3:67466600-67508400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:67471200-67503800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr3:67471600-67518800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr3:67472000-67506200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr3:67472000-67509800	Weak transcription	HSMM	muscle
8	chr3:67473400-67521000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr3:67473600-67542000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr3:67478200-67512200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:67482600-67527200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr3:67482600-67528600	Weak transcription	GM12878-XiMat	blood
13	chr3:67482800-67503800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr3:67482800-67520800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr3:67482800-67533400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr3:67484000-67511400	Weak transcription	Fetal Lung	lung
17	chr3:67485800-67503800	Weak transcription	Primary B cells from cord blood	blood
18	chr3:67486800-67506000	Weak transcription	Primary T cells from cord blood	blood
19	chr3:67487000-67518600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:67487800-67503400	Weak transcription	Liver	Liver
21	chr3:67487800-67512200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:67488000-67544200	Weak transcription	A549	lung
23	chr3:67488400-67566400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr3:67490200-67511800	Weak transcription	HSMMtube	muscle
25	chr3:67492200-67545400	Weak transcription	Fetal Intestine Small	intestine
26	chr3:67492400-67515400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr3:67492400-67516600	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr3:67497600-67499400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:67498000-67534200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr3:67498600-67499800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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