Variant report

Variant	rs2665512
Chromosome Location	chr9:15467817-15467818
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:15465896..15468103-chr9:15469052..15471427,2	K562	blood:
2	chr9:15466603..15468286-chr9:15468644..15471427,2	K562	blood:
3	chr9:15460438..15462914-chr9:15467328..15469967,2	K562	blood:
4	chr9:15463673..15465886-chr9:15466740..15469405,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10116904	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10117524	0.88[AMR][1000 genomes]
rs10118595	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10118675	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10118719	0.82[AMR][1000 genomes]
rs10119257	0.82[AMR][1000 genomes]
rs10119931	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10120171	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10121012	0.83[EUR][1000 genomes]
rs10121911	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10123084	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10124655	0.88[AMR][1000 genomes]
rs10124718	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10125713	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1041529	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10962061	0.88[AMR][1000 genomes]
rs12337310	0.97[EUR][1000 genomes]
rs12344963	0.86[EUR][1000 genomes]
rs12348561	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12348564	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12348780	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12350062	0.91[EUR][1000 genomes]
rs12350903	0.83[EUR][1000 genomes]
rs12352398	0.83[EUR][1000 genomes]
rs12353048	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12859	0.85[EUR][1000 genomes]
rs1882939	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2064030	0.94[EUR][1000 genomes]
rs2665503	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2665510	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2665511	1.00[CEU][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]
rs2665515	0.91[EUR][1000 genomes]
rs2737836	1.00[AMR][1000 genomes]
rs2737840	0.97[EUR][1000 genomes]
rs2777951	0.86[EUR][1000 genomes]
rs2795123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2795124	1.00[CEU][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]
rs2795125	0.94[EUR][1000 genomes]
rs2795127	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2821525	0.86[EUR][1000 genomes]
rs2821529	0.97[EUR][1000 genomes]
rs2821530	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2821533	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28449490	0.88[AMR][1000 genomes]
rs28497163	0.97[EUR][1000 genomes]
rs28610358	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28735068	0.88[AMR][1000 genomes]
rs28796681	0.80[EUR][1000 genomes]
rs28800775	0.83[EUR][1000 genomes]
rs28808908	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28844368	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28882210	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7021840	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs741930	0.91[EUR][1000 genomes]
rs7852936	0.86[EUR][1000 genomes]
rs7860339	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs909323	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs926154	1.00[CEU][hapmap]
rs9298729	1.00[CEU][hapmap];0.97[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	nsv517975	chr9:15286446-15534070	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv892625	chr9:15326251-16064850	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv892626	chr9:15389610-15694690	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv892627	chr9:15397969-15909450	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv892628	chr9:15420805-15528290	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15426400-15468200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:15433400-15492400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr9:15438400-15469800	Strong transcription	Primary B cells from peripheral blood	blood
4	chr9:15438800-15468800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr9:15439000-15492200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr9:15442200-15469400	Strong transcription	Duodenum Mucosa	Duodenum
7	chr9:15442600-15478200	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr9:15442600-15478600	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr9:15442800-15508400	Strong transcription	Fetal Thymus	thymus
10	chr9:15443000-15470200	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr9:15443000-15478000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr9:15443000-15482200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr9:15443200-15469200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr9:15443200-15478000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr9:15443200-15479600	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr9:15443200-15490400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr9:15443200-15492400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr9:15443400-15469000	Strong transcription	Osteobl	bone
19	chr9:15443400-15469600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:15443400-15469600	Strong transcription	Fetal Intestine Large	intestine
21	chr9:15443400-15479200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr9:15443600-15469000	Strong transcription	Liver	Liver
23	chr9:15443600-15470400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr9:15443800-15492200	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr9:15444000-15482000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr9:15444000-15487600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr9:15444000-15492400	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr9:15444400-15495200	Weak transcription	Fetal Heart	heart
29	chr9:15444600-15491200	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr9:15444800-15482200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:15445400-15468600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr9:15446800-15468200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr9:15447000-15509800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr9:15447400-15469800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr9:15448200-15472200	Weak transcription	Aorta	Aorta
36	chr9:15448200-15482200	Weak transcription	Psoas Muscle	Psoas
37	chr9:15448400-15480000	Weak transcription	Stomach Mucosa	stomach
38	chr9:15448600-15476400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:15449000-15492200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr9:15449800-15478000	Strong transcription	Fetal Lung	lung
41	chr9:15449800-15509000	Weak transcription	Small Intestine	intestine
42	chr9:15450600-15468400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr9:15452200-15480200	Weak transcription	Brain Substantia Nigra	brain
44	chr9:15452200-15492400	Weak transcription	Right Ventricle	heart
45	chr9:15452600-15470000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr9:15454200-15478600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr9:15454600-15508600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr9:15455600-15468400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr9:15456200-15470200	Strong transcription	Adipose Nuclei	Adipose
50	chr9:15456200-15480600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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