Variant report

Variant	rs1431494
Chromosome Location	chr3:150895145-150895146
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	chr3:150894791..150897872-chr3:150901090..150904016,3	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10513385	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10513386	0.82[ASW][hapmap];0.87[CHB][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12106682	0.89[ASW][hapmap]
rs12631155	1.00[ASW][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs12636713	0.87[CHB][hapmap];0.92[JPT][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1431495	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1431496	0.87[CHB][hapmap];0.92[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16863149	1.00[TSI][hapmap]
rs16863155	0.83[EUR][1000 genomes]
rs16863204	0.89[ASW][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16863208	0.82[ASW][hapmap];0.87[CHB][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16863219	0.89[ASW][hapmap]
rs16863223	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16863227	0.89[YRI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16863229	1.00[ASW][hapmap];0.87[CHB][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16863238	0.87[CHB][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap]
rs16863248	1.00[ASW][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs2043170	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2870413	1.00[ASW][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes]
rs2870414	0.82[AFR][1000 genomes]
rs2870415	1.00[ASW][hapmap];1.00[GIH][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs3732755	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3732756	1.00[TSI][hapmap]
rs3773614	1.00[ASW][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes]
rs41526349	0.89[ASW][hapmap]
rs4330297	0.86[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56151283	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56350229	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59669423	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60749276	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61099669	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6440723	1.00[ASW][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs66725169	0.82[AFR][1000 genomes]
rs6772538	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6772543	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67740545	0.82[AFR][1000 genomes]
rs6775269	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6790349	0.81[AFR][1000 genomes]
rs6802229	0.87[CHB][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73016801	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73018604	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73018614	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73018621	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73018622	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73018628	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73018640	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73018641	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73019085	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73019091	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73021129	0.81[AFR][1000 genomes]
rs7615523	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7616375	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7650189	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7650499	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7650959	0.81[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9917673	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[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	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
5	nsv877648	chr3:150792444-150895145	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150872800-150910800	Weak transcription	Brain Germinal Matrix	brain
2	chr3:150873200-150910200	Weak transcription	Brain Angular Gyrus	brain
3	chr3:150873800-150913800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr3:150874200-150896000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr3:150874800-150900200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr3:150878000-150946000	Weak transcription	Placenta	Placenta
7	chr3:150880400-150900200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:150880800-150900400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr3:150883800-150896000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr3:150884200-150906600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:150888600-150896000	Weak transcription	Stomach Mucosa	stomach
12	chr3:150888800-150896000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr3:150889000-150904000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr3:150889200-150908200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:150889200-150914800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:150889400-150896200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr3:150889400-150903600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr3:150889600-150904000	Weak transcription	Brain Anterior Caudate	brain
19	chr3:150889600-150913800	Weak transcription	Fetal Muscle Leg	muscle
20	chr3:150889800-150896000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr3:150890000-150897400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr3:150890600-150923400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr3:150891000-150900200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr3:150892400-150904200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr3:150892800-150898000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr3:150893200-150896200	Enhancers	HepG2	liver
27	chr3:150893600-150898600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr3:150893800-150897600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:150894000-150896200	Weak transcription	Fetal Intestine Large	intestine
30	chr3:150894000-150896200	Weak transcription	Fetal Intestine Small	intestine
31	chr3:150894000-150904200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr3:150894600-150896800	Weak transcription	Small Intestine	intestine
33	chr3:150894800-150895200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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