Variant report

Variant	rs6440723
Chromosome Location	chr3:150929462-150929463
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:150869768..150872209-chr3:150929310..150930894,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10513385	0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs10513386	0.82[ASW][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs12106682	0.89[ASW][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs12631155	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12633262	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs12633553	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12638293	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1431494	1.00[ASW][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs1431495	0.82[YRI][hapmap];0.81[AFR][1000 genomes]
rs16863151	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16863173	1.00[EUR][1000 genomes]
rs16863204	0.89[ASW][hapmap]
rs16863208	0.82[ASW][hapmap]
rs16863219	0.89[ASW][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs16863223	0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs16863229	1.00[ASW][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs16863248	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16863250	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2060080	0.95[ASN][1000 genomes]
rs2870413	1.00[ASW][hapmap];0.83[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs2870414	0.96[AFR][1000 genomes]
rs2870415	1.00[ASW][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3732755	0.82[ASW][hapmap];1.00[GIH][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs3773614	1.00[ASW][hapmap];0.87[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs3773618	0.95[ASN][1000 genomes]
rs3821666	1.00[JPT][hapmap];0.88[YRI][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3960212	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs41526246	1.00[MEX][hapmap];0.94[MKK][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41526349	0.89[ASW][hapmap];1.00[MEX][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs4330297	0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs58321514	1.00[EUR][1000 genomes]
rs60620665	1.00[EUR][1000 genomes]
rs60816259	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60966250	1.00[EUR][1000 genomes]
rs6440725	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66725169	0.96[AFR][1000 genomes]
rs6767615	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67740545	0.96[AFR][1000 genomes]
rs6774659	1.00[EUR][1000 genomes]
rs6775269	1.00[GIH][hapmap]
rs6776934	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6777211	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6787551	1.00[EUR][1000 genomes]
rs6790244	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6790349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6794447	1.00[EUR][1000 genomes]
rs73009177	1.00[EUR][1000 genomes]
rs73012977	1.00[EUR][1000 genomes]
rs73012978	1.00[EUR][1000 genomes]
rs73012986	1.00[EUR][1000 genomes]
rs73012988	1.00[EUR][1000 genomes]
rs73012992	1.00[EUR][1000 genomes]
rs73013000	1.00[EUR][1000 genomes]
rs73014806	1.00[EUR][1000 genomes]
rs73014871	1.00[EUR][1000 genomes]
rs73014873	1.00[EUR][1000 genomes]
rs73016712	1.00[EUR][1000 genomes]
rs73016789	1.00[EUR][1000 genomes]
rs73018614	0.81[AFR][1000 genomes]
rs73018620	1.00[EUR][1000 genomes]
rs73018621	0.81[AFR][1000 genomes]
rs73018622	0.81[AFR][1000 genomes]
rs73018640	0.82[AFR][1000 genomes]
rs73018641	0.82[AFR][1000 genomes]
rs73019085	0.87[AFR][1000 genomes]
rs73019091	0.81[AFR][1000 genomes]
rs73019093	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73019099	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73021108	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73021116	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73021122	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73021129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73021144	1.00[EUR][1000 genomes]
rs7618087	1.00[EUR][1000 genomes]
rs7638986	0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs7650959	0.82[YRI][hapmap];0.81[AFR][1000 genomes]
rs7653225	0.89[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9917673	0.82[ASW][hapmap];1.00[GIH][hapmap];0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460894	chr3:150770614-151095093	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv592045	chr3:150770614-151095093	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2757897	chr3:150791625-150957485	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2759188	chr3:150791625-150957485	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150878000-150946000	Weak transcription	Placenta	Placenta
2	chr3:150908800-150933200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:150917000-150931600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:150919800-150933400	Weak transcription	Primary B cells from cord blood	blood
5	chr3:150927200-150929600	Enhancers	Primary hematopoietic stem cells	blood
6	chr3:150927800-150929600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr3:150928200-150936000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:150928800-150933600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:150928800-150943800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:150928800-150946200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:150928800-150952800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:150928800-150953000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:150929000-150929600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:150929000-150931800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:150929000-150933400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr3:150929000-150933600	Weak transcription	Adipose Nuclei	Adipose
17	chr3:150929000-150934000	Weak transcription	Brain Anterior Caudate	brain
18	chr3:150929000-150934400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr3:150929000-150935000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr3:150929000-150938200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr3:150929000-150943200	Weak transcription	Psoas Muscle	Psoas
22	chr3:150929000-150945200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr3:150929200-150929800	Enhancers	Fetal Intestine Large	intestine
24	chr3:150929200-150931200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr3:150929200-150931600	Weak transcription	Dnd41	blood
26	chr3:150929200-150931800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:150929200-150932000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:150929200-150932200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr3:150929200-150933600	Weak transcription	Fetal Heart	heart
30	chr3:150929200-150935000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr3:150929200-150938000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr3:150929200-150945400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr3:150929400-150929800	Enhancers	Liver	Liver
34	chr3:150929400-150929800	Enhancers	Fetal Intestine Small	intestine
35	chr3:150929400-150930000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:150929400-150932000	Weak transcription	HepG2	liver

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