Variant report

Variant	rs4324288
Chromosome Location	chr2:182097994-182097995
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:182096231..182098088-chr2:182100894..182102603,2	K562	blood:
2	chr2:182095672..182098077-chr2:182098545..182101336,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10209191	0.85[ASN][1000 genomes]
rs12615998	0.88[ASN][1000 genomes]
rs12616042	0.88[ASN][1000 genomes]
rs12619531	0.85[ASN][1000 genomes]
rs12693272	0.90[ASN][1000 genomes]
rs4233790	0.86[ASN][1000 genomes]
rs4439920	0.85[ASN][1000 genomes]
rs4441425	0.85[ASN][1000 genomes]
rs4444479	0.88[ASN][1000 genomes]
rs4496291	0.88[ASN][1000 genomes]
rs4514841	0.82[ASN][1000 genomes]
rs4522566	0.88[ASN][1000 genomes]
rs4563183	0.85[ASN][1000 genomes]
rs4666715	0.88[ASN][1000 genomes]
rs4666716	0.86[ASN][1000 genomes]
rs4666717	0.85[ASN][1000 genomes]
rs4667127	0.88[ASN][1000 genomes]
rs4667128	0.85[ASN][1000 genomes]
rs4667129	0.85[ASN][1000 genomes]
rs4667130	0.85[ASN][1000 genomes]
rs4667135	0.86[ASN][1000 genomes]
rs7561880	0.88[ASN][1000 genomes]
rs7580110	0.88[ASN][1000 genomes]
rs7593597	0.85[ASN][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	nsv431824	chr2:181946115-182118559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1002647	chr2:182078521-182392273	Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv536064	chr2:182078521-182392273	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182088400-182105400	Weak transcription	Dnd41	blood
2	chr2:182090200-182105600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr2:182090400-182103200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:182090600-182103200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:182091200-182103000	Weak transcription	Primary T cells from cord blood	blood
6	chr2:182091600-182100600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr2:182091800-182106000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:182092600-182106200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr2:182093600-182106200	Weak transcription	Fetal Thymus	thymus
10	chr2:182095600-182098800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:182096400-182099000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:182097200-182098800	Weak transcription	HSMMtube	muscle
13	chr2:182097600-182098800	Weak transcription	NHDF-Ad	bronchial
14	chr2:182097600-182099400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:182097800-182101600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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