Variant report

Variant	rs1043381
Chromosome Location	chr5:95221337-95221338
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:95218349..95221486-chr5:95224324..95227675,3	K562	blood:
2	chr5:95219720..95223922-chr5:95224301..95226439,3	MCF-7	breast:
3	chr5:95214888..95216647-chr5:95219513..95221406,2	K562	blood:
4	chr5:95212190..95213733-chr5:95220441..95223038,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C5orf27-4	chr5:95220264-95221593	NONHSAT102873
2	lnc-C5orf27-4	chr5:95220264-95221590	NONHSAT102875
3	lnc-C5orf27-4	chr5:95220264-95221590	ucscGeneNc_uc003klp_2

No data

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10035477	1.00[CEU][hapmap];0.90[CHB][hapmap];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10052503	0.86[YRI][hapmap]
rs10069748	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10070197	0.95[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1057963	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs1057964	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11135441	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs11135442	1.00[CEU][hapmap];0.90[CHB][hapmap];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11738768	0.99[EUR][1000 genomes]
rs11738945	0.85[CEU][hapmap]
rs11739652	0.99[EUR][1000 genomes]
rs11741563	0.97[EUR][1000 genomes]
rs11741590	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11742959	0.84[CEU][hapmap]
rs11744881	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs13361341	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13361837	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1423268	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1423269	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs1458017	0.80[CEU][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1458018	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1458019	0.95[EUR][1000 genomes]
rs147295	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs154460	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17085231	1.00[CEU][hapmap];0.90[CHB][hapmap];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17085249	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs17085266	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1841010	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2015159	0.91[EUR][1000 genomes]
rs2042340	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs2270554	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2348984	1.00[CEU][hapmap];0.82[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2546191	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2547997	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2548594	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2829	0.95[EUR][1000 genomes]
rs3777163	0.80[YRI][hapmap]
rs3777179	0.84[CEU][hapmap]
rs3777182	0.89[EUR][1000 genomes]
rs3777183	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs3777184	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs3777185	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs3777188	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs3777189	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs3777190	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs3777192	0.95[EUR][1000 genomes]
rs3777193	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3777194	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3777196	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3777197	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3777200	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs3777201	0.99[EUR][1000 genomes]
rs3777202	0.99[EUR][1000 genomes]
rs3777203	0.99[EUR][1000 genomes]
rs3777204	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3777207	0.80[CEU][hapmap]
rs3777208	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3815768	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs4563648	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4642392	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56156268	0.97[EUR][1000 genomes]
rs56219066	0.99[EUR][1000 genomes]
rs6556893	1.00[CEU][hapmap];0.90[CHB][hapmap];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6861531	0.80[CEU][hapmap];0.80[YRI][hapmap]
rs6877329	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6879652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6885567	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6889029	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs6890954	1.00[CEU][hapmap];0.90[CHB][hapmap];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7700895	0.80[CEU][hapmap]
rs7702674	0.99[EUR][1000 genomes]
rs7716691	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs889302	0.95[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9314162	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs967546	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs9986236	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1043381	ELL2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95210600-95221800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr5:95212000-95224000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr5:95212400-95223800	Weak transcription	Brain Substantia Nigra	brain
4	chr5:95213000-95244600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:95214400-95224800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:95214400-95234200	Weak transcription	Fetal Brain Female	brain
7	chr5:95214400-95247800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr5:95214400-95251800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:95214600-95222000	Weak transcription	Left Ventricle	heart
10	chr5:95214600-95225000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr5:95214600-95230400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:95214800-95226000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:95215000-95230200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:95215200-95223600	Weak transcription	A549	lung
15	chr5:95215200-95234200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:95215600-95226000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:95215600-95226000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr5:95215800-95244600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:95216200-95221600	Enhancers	HepG2	liver
20	chr5:95216200-95222000	Weak transcription	Fetal Thymus	thymus
21	chr5:95216600-95222000	Weak transcription	Fetal Intestine Large	intestine
22	chr5:95216600-95225800	Weak transcription	Colonic Mucosa	Colon
23	chr5:95216800-95223600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:95217000-95223800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr5:95217800-95225600	Weak transcription	Lung	lung
26	chr5:95217800-95230000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:95218000-95222200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:95218000-95225400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr5:95218000-95225800	Weak transcription	Aorta	Aorta
30	chr5:95218000-95226200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr5:95218000-95231000	Weak transcription	Right Atrium	heart
32	chr5:95218000-95242200	Weak transcription	Spleen	Spleen
33	chr5:95218200-95221800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr5:95218200-95224400	Weak transcription	Brain Anterior Caudate	brain
35	chr5:95218200-95224800	Weak transcription	Brain Hippocampus Middle	brain
36	chr5:95218200-95231600	Weak transcription	Fetal Heart	heart
37	chr5:95218200-95246200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr5:95218800-95221400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:95219000-95221400	Enhancers	GM12878-XiMat	blood
40	chr5:95219200-95221400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:95219200-95221800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:95219200-95225600	Weak transcription	Pancreas	Pancrea
43	chr5:95219200-95226000	Weak transcription	Brain Angular Gyrus	brain
44	chr5:95219200-95229600	Weak transcription	Esophagus	oesophagus
45	chr5:95219400-95221600	Genic enhancers	Osteobl	bone
46	chr5:95219600-95223600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr5:95219600-95225800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr5:95219800-95223600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr5:95219800-95223800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr5:95219800-95244400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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