Variant report

Variant	rs44466
Chromosome Location	chr9:101930249-101930250
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:101921262..101923800-chr9:101929228..101931291,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1013186	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs10283455	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs10733709	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10739778	0.86[JPT][hapmap]
rs10739779	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs10760667	0.81[AMR][1000 genomes]
rs10760668	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10760669	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10760670	0.94[CEU][hapmap];0.81[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10760671	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10760672	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10760673	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10760674	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10819634	0.83[AMR][1000 genomes]
rs10819635	0.83[CEU][hapmap];0.81[AMR][1000 genomes]
rs10819636	0.88[ASN][1000 genomes]
rs10819637	0.85[EUR][1000 genomes]
rs10819638	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10819639	0.95[CEU][hapmap]
rs10819640	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs10988703	0.85[EUR][1000 genomes]
rs10988706	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10988709	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs10988714	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs10988715	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs10988716	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10988717	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs10988723	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11568752	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs11568753	0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs11568770	0.92[CHB][hapmap];0.84[ASN][1000 genomes]
rs11568778	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs12346650	0.95[CHB][hapmap];0.82[AMR][1000 genomes]
rs12685571	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs1571589	0.95[CEU][hapmap];0.80[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1571590	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs1590	0.89[CEU][hapmap];0.82[JPT][hapmap]
rs1626340	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1699413	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1888225	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs1973518	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2026811	0.94[CEU][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs334348	0.89[CEU][hapmap];0.82[JPT][hapmap]
rs334349	0.89[CEU][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes]
rs334350	0.92[EUR][1000 genomes]
rs334351	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs334353	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs334354	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs334355	0.94[CEU][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs334356	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs334357	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs334358	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs334362	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs334363	0.96[ASN][1000 genomes]
rs334364	0.96[ASN][1000 genomes]
rs334365	0.82[ASN][1000 genomes]
rs334366	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs334367	0.96[ASN][1000 genomes]
rs334368	0.94[AFR][1000 genomes]
rs334369	0.95[AFR][1000 genomes]
rs334370	0.96[ASN][1000 genomes]
rs334371	0.83[ASN][1000 genomes]
rs367568	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3739798	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs383496	0.80[ASN][1000 genomes]
rs385057	0.91[EUR][1000 genomes]
rs401186	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs420549	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs478061	0.96[AFR][1000 genomes]
rs597457	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6478972	0.94[CEU][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6478973	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7031302	0.89[CEU][hapmap];0.81[JPT][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7031309	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7041311	0.91[CHB][hapmap]
rs7042852	0.94[CEU][hapmap];0.91[CHB][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7043624	0.84[CEU][hapmap];0.83[CHB][hapmap];0.88[AMR][1000 genomes]
rs7874221	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs789675	0.92[EUR][1000 genomes]
rs868	1.00[CEU][hapmap];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893619	chr9:101835165-101936231	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv831666	chr9:101874985-102018690	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats 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	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101912600-101932200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr9:101922600-101930600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr9:101922800-101932200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:101926400-101930800	Enhancers	GM12878-XiMat	blood
5	chr9:101927800-101930800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr9:101928000-101930400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr9:101928400-101930800	Enhancers	Primary T cells from cord blood	blood
8	chr9:101928800-101930800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr9:101929400-101930800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr9:101929400-101930800	Enhancers	Thymus	Thymus
11	chr9:101929400-101931000	Enhancers	Primary B cells from peripheral blood	blood
12	chr9:101929600-101930400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:101929600-101930600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr9:101929600-101930800	Enhancers	Primary hematopoietic stem cells	blood
15	chr9:101929600-101930800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr9:101929600-101931000	Enhancers	Fetal Thymus	thymus
17	chr9:101929600-101932200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr9:101929800-101930600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr9:101929800-101930600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr9:101929800-101930600	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr9:101929800-101930800	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr9:101929800-101930800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr9:101929800-101930800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr9:101929800-101933600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr9:101930000-101930400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr9:101930000-101930400	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr9:101930000-101930600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr9:101930000-101931800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr9:101930000-101932400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr9:101930000-101932400	Weak transcription	K562	blood
31	chr9:101930000-101933000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr9:101930200-101930600	Enhancers	Primary B cells from cord blood	blood
33	chr9:101930200-101931600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr9:101930200-101931600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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