Variant report

Variant	rs9314162
Chromosome Location	chr5:95252594-95252595
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95248637..95251285-chr5:95252378..95254672,2	K562	blood:
2	chr5:95249774..95251634-chr5:95252118..95254823,2	MCF-7	breast:
3	chr5:95247990..95250202-chr5:95251681..95254252,2	MCF-7	breast:
4	chr5:95252395..95254365-chr5:95256806..95259702,2	MCF-7	breast:
5	chr5:95246760..95250137-chr5:95252378..95255007,4	K562	blood:
6	chr5:95251039..95253504-chr5:95783165..95785479,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10035477	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10052503	0.91[CHB][hapmap]
rs10069748	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10070197	0.95[CEU][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10073752	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs1043381	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10515232	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs1057963	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1057964	1.00[CEU][hapmap];0.91[CHB][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11135441	0.90[CEU][hapmap]
rs11135442	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11738768	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11738945	0.85[CEU][hapmap]
rs11739652	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11741563	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11741590	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11742959	0.84[CEU][hapmap]
rs11744881	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13361341	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13361837	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1423268	1.00[CEU][hapmap];0.92[CHB][hapmap];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1423269	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1458017	0.80[CEU][hapmap];0.91[CHB][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1458018	1.00[CEU][hapmap];0.91[CHB][hapmap];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1458019	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs147295	0.81[EUR][1000 genomes]
rs17085231	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17085249	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17085266	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17085333	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs1841010	1.00[CEU][hapmap];0.92[CHB][hapmap];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2015159	0.94[EUR][1000 genomes]
rs2042340	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2161318	0.91[CHB][hapmap]
rs2270554	1.00[CEU][hapmap];0.91[CHB][hapmap];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2348984	1.00[CEU][hapmap];0.90[CHB][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2546191	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2546199	0.91[CHB][hapmap]
rs2547997	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2548594	1.00[CEU][hapmap];0.91[CHB][hapmap];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2829	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777162	0.91[CHB][hapmap]
rs3777163	0.91[CHB][hapmap]
rs3777165	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs3777166	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs3777171	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs3777173	0.91[CHB][hapmap];0.81[JPT][hapmap];0.80[YRI][hapmap]
rs3777175	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs3777178	0.91[CHB][hapmap]
rs3777179	0.84[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap]
rs3777182	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3777183	0.95[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3777184	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777185	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777188	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777189	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3777190	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777192	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777193	0.95[CEU][hapmap];0.91[CHB][hapmap];0.88[JPT][hapmap];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3777194	1.00[CEU][hapmap];0.91[CHB][hapmap];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3777196	1.00[CEU][hapmap];0.91[CHB][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3777197	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3777200	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3777201	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3777202	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3777203	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3777204	1.00[CEU][hapmap];0.92[CHB][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3777207	0.80[CEU][hapmap]
rs3777208	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3815768	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4538631	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs4563648	0.94[EUR][1000 genomes]
rs4642392	1.00[CEU][hapmap];0.91[CHB][hapmap];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56156268	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56219066	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6556893	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6861531	0.80[CEU][hapmap];0.91[CHB][hapmap]
rs6877329	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6879652	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs6881872	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs6885567	1.00[CEU][hapmap];0.92[CHB][hapmap];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6889029	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6890954	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7700895	0.80[CEU][hapmap];0.91[CHB][hapmap]
rs7702674	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7705279	0.86[CHB][hapmap]
rs7716691	1.00[CEU][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7724599	0.91[CHB][hapmap]
rs889302	0.95[CEU][hapmap];0.92[CHB][hapmap];0.94[EUR][1000 genomes]
rs967546	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9986236	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]

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	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9314162	ELL2	cis	multi-tissue	Pritchard

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95223000-95259800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:95226400-95263600	Weak transcription	Colonic Mucosa	Colon
3	chr5:95227400-95253800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr5:95231200-95254000	Weak transcription	Fetal Stomach	stomach
5	chr5:95232400-95255200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr5:95236200-95254200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:95236400-95276600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:95236800-95260000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr5:95238200-95260400	Weak transcription	A549	lung
10	chr5:95238200-95282000	Weak transcription	HUVEC	blood vessel
11	chr5:95239600-95253200	Strong transcription	Osteobl	bone
12	chr5:95242600-95259000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr5:95242600-95259800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr5:95243000-95255600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:95243000-95256800	Enhancers	Brain Substantia Nigra	brain
16	chr5:95243400-95278800	Weak transcription	Lung	lung
17	chr5:95243600-95274200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr5:95244400-95258600	Weak transcription	Fetal Intestine Large	intestine
19	chr5:95244800-95260600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:95245000-95254600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:95245000-95256400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:95245200-95259000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:95245600-95252600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:95245800-95255800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:95245800-95256200	Strong transcription	NHEK	skin
26	chr5:95246400-95266400	Weak transcription	NHDF-Ad	bronchial
27	chr5:95248600-95253200	Weak transcription	Placenta	Placenta
28	chr5:95249400-95253000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:95249800-95271600	Weak transcription	NH-A	brain
30	chr5:95250600-95263000	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr5:95251000-95252600	Enhancers	Right Atrium	heart
32	chr5:95251000-95253400	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr5:95251000-95253600	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr5:95251200-95252600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:95251200-95253200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:95251200-95253200	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr5:95251200-95253200	Enhancers	Brain Anterior Caudate	brain
38	chr5:95251200-95253400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:95251200-95254600	Genic enhancers	Muscle Satellite Cultured Cells	--
40	chr5:95251200-95254800	Enhancers	Brain Cingulate Gyrus	brain
41	chr5:95251200-95259000	Weak transcription	Fetal Intestine Small	intestine
42	chr5:95251200-95260200	Genic enhancers	Liver	Liver
43	chr5:95251200-95261800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:95251400-95260200	Genic enhancers	HepG2	liver
45	chr5:95251600-95252600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:95251600-95252600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:95251600-95252800	Enhancers	Primary hematopoietic stem cells	blood
48	chr5:95251600-95253400	Enhancers	Adipose Nuclei	Adipose
49	chr5:95251600-95253800	Enhancers	Brain Hippocampus Middle	brain
50	chr5:95251600-95254400	Genic enhancers	HSMM	muscle

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