Variant report

Variant	rs11689322
Chromosome Location	chr2:145423016-145423017
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	chr2:145422911..145424431-chr2:145433210..145435482,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11675927	0.92[CEU][hapmap];1.00[YRI][hapmap]
rs11685274	0.94[EUR][1000 genomes]
rs11689575	0.92[CEU][hapmap]
rs11691685	0.85[EUR][1000 genomes]
rs1346344	1.00[YRI][hapmap]
rs16823886	1.00[YRI][hapmap]
rs4384720	0.92[CEU][hapmap];0.96[EUR][1000 genomes]
rs66537831	0.96[EUR][1000 genomes]
rs6718158	0.93[EUR][1000 genomes]
rs67382063	0.94[EUR][1000 genomes]
rs6752912	0.89[EUR][1000 genomes]
rs6756405	0.89[EUR][1000 genomes]
rs67963154	0.86[EUR][1000 genomes]
rs68017203	0.96[EUR][1000 genomes]
rs72850698	0.98[EUR][1000 genomes]
rs72852115	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72852118	1.00[EUR][1000 genomes]
rs72852120	1.00[EUR][1000 genomes]
rs72852122	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72852128	0.96[EUR][1000 genomes]
rs72852130	0.96[EUR][1000 genomes]
rs72852133	0.96[EUR][1000 genomes]
rs72852135	0.96[EUR][1000 genomes]
rs72852137	0.96[EUR][1000 genomes]
rs72852150	0.89[EUR][1000 genomes]
rs7595770	1.00[CEU][hapmap];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv916172	chr2:144970681-145425713	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv948474	chr2:145035890-145436665	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS 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	14 gene(s)	inside rSNPs	diseases
5	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv529501	chr2:145257682-145485605	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145416800-145431400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:145419000-145423400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:145419000-145423400	Weak transcription	HMEC	breast
4	chr2:145419000-145432800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:145420200-145424000	Enhancers	K562	blood
6	chr2:145420600-145424600	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr2:145421400-145426600	Weak transcription	Primary B cells from cord blood	blood
8	chr2:145421600-145427200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr2:145422000-145426400	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr2:145422200-145423400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:145422200-145423800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:145422600-145429000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:145422800-145423600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:145422800-145423800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:145423000-145423400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:145423000-145440600	Weak transcription	Primary hematopoietic stem cells	blood

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