Variant report

Variant	rs12636713
Chromosome Location	chr3:150891280-150891281
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	chr3:150890931..150894711-chr3:150896702..150899064,3	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10513385	0.87[CHB][hapmap];0.92[JPT][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10513386	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1431494	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	0.85[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1431496	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16863155	0.83[EUR][1000 genomes]
rs16863204	0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs16863208	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16863223	0.86[CHB][hapmap];0.92[JPT][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16863227	1.00[EUR][1000 genomes]
rs16863229	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16863238	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16863250	0.81[AFR][1000 genomes]
rs2043170	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3732755	0.87[CHB][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3821666	0.81[AFR][1000 genomes]
rs4330297	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56151283	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56350229	1.00[EUR][1000 genomes]
rs59669423	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60749276	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61099669	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6772538	0.87[CHB][hapmap];0.92[JPT][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6772543	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6775269	0.86[CHB][hapmap];0.92[JPT][hapmap];0.84[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6802229	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73016801	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73018604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73018614	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73018621	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73018622	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73018628	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73018640	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73018641	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73019085	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73019091	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7615523	0.87[CHB][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7616375	0.87[CHB][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7650189	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7650499	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7650959	0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9917673	0.87[CHB][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][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:37 , 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	chr3:150884400-150893400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr3:150886200-150892400	Enhancers	Primary T cells from cord blood	blood
13	chr3:150886200-150893000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr3:150886800-150892600	Weak transcription	Liver	Liver
15	chr3:150888400-150893800	Weak transcription	Small Intestine	intestine
16	chr3:150888600-150896000	Weak transcription	Stomach Mucosa	stomach
17	chr3:150888800-150896000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr3:150889000-150904000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr3:150889200-150908200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:150889200-150914800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:150889400-150896200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr3:150889400-150903600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr3:150889600-150894800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr3:150889600-150904000	Weak transcription	Brain Anterior Caudate	brain
25	chr3:150889600-150913800	Weak transcription	Fetal Muscle Leg	muscle
26	chr3:150889800-150893400	Weak transcription	Fetal Intestine Small	intestine
27	chr3:150889800-150896000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr3:150890000-150892800	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr3:150890000-150893200	Weak transcription	HepG2	liver
30	chr3:150890000-150897400	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr3:150890600-150923400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr3:150890800-150891600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr3:150890800-150891800	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr3:150891000-150891400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr3:150891000-150891600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:150891000-150900200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr3:150891200-150892600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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