Variant report

Variant	rs4316847
Chromosome Location	chr18:43734675-43734676
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43734389..43736469-chr18:43738925..43741638,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs11082512	0.80[CHB][hapmap];0.83[JPT][hapmap]
rs11663162	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875115	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12604963	0.83[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap]
rs12605796	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12607480	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs12953780	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs12959827	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12967694	0.80[CHB][hapmap];0.83[JPT][hapmap]
rs12970379	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1612622	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1618124	0.90[EUR][1000 genomes]
rs1620584	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1620609	0.88[EUR][1000 genomes]
rs1626506	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1632043	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1658904	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1658905	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1658906	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1658907	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1658908	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1791400	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1791401	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1791406	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1791407	0.88[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1791408	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1791410	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1791411	0.87[ASN][1000 genomes]
rs1791412	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1791413	0.94[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1791414	0.94[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1791421	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2578189	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs2886001	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35029196	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35211836	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36122010	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3744992	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs4243278	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs4274509	0.89[CEU][hapmap];0.96[CHB][hapmap];0.83[JPT][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4315430	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4890617	0.83[CHB][hapmap]
rs4890620	0.82[CHB][hapmap]
rs6507665	0.88[EUR][1000 genomes]
rs6507667	0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6507669	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6507670	0.83[ASN][1000 genomes]
rs6507675	0.94[CEU][hapmap];0.96[CHB][hapmap];0.83[JPT][hapmap];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6507679	0.82[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap]
rs7228642	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7234588	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7241527	0.81[CHB][hapmap]
rs7242845	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7506126	0.82[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap]
rs8083916	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs8089015	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8090410	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9954565	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9959526	0.82[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap]
rs9965365	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs9967229	0.82[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap]

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	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43685200-43735600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr18:43706200-43747800	Weak transcription	Brain Substantia Nigra	brain
3	chr18:43707600-43735800	Weak transcription	Primary B cells from cord blood	blood
4	chr18:43710600-43752800	Weak transcription	Fetal Brain Female	brain
5	chr18:43711000-43735600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr18:43712400-43739200	Weak transcription	Fetal Intestine Small	intestine
7	chr18:43714000-43748400	Weak transcription	Ovary	ovary
8	chr18:43722400-43736600	Weak transcription	Fetal Stomach	stomach
9	chr18:43728600-43735600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr18:43728600-43735600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr18:43728800-43735600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr18:43728800-43735600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr18:43730200-43736400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr18:43731800-43735600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr18:43732000-43735600	Enhancers	Primary T cells fromperipheralblood	blood
16	chr18:43732000-43735600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr18:43732000-43735600	Enhancers	Dnd41	blood
18	chr18:43732000-43738600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr18:43732200-43735200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr18:43732200-43735600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr18:43732600-43739000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr18:43732800-43735600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr18:43733000-43735200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr18:43733000-43735400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr18:43733000-43737200	Enhancers	HSMMtube	muscle
26	chr18:43733200-43735000	Weak transcription	Fetal Brain Male	brain
27	chr18:43733200-43735400	Weak transcription	Fetal Thymus	thymus
28	chr18:43733200-43735400	Weak transcription	NHLF	lung
29	chr18:43733200-43736800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr18:43733200-43740200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr18:43733200-43740600	Enhancers	HMEC	breast
32	chr18:43733200-43753200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr18:43733400-43736400	Weak transcription	Esophagus	oesophagus
34	chr18:43733600-43734800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr18:43733600-43734800	Weak transcription	NHDF-Ad	bronchial
36	chr18:43733600-43734800	Weak transcription	Osteobl	bone
37	chr18:43733600-43735800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr18:43733600-43735800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr18:43733600-43735800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr18:43733600-43735800	Weak transcription	A549	lung
41	chr18:43733600-43736200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr18:43733600-43738400	Weak transcription	Fetal Heart	heart
43	chr18:43733600-43738400	Weak transcription	Left Ventricle	heart
44	chr18:43733600-43746200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr18:43733600-43746400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr18:43733800-43734800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr18:43733800-43734800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr18:43733800-43734800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr18:43733800-43735000	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr18:43733800-43735200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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