Variant report

Variant	rs6507670
Chromosome Location	chr18:43734409-43734410
allele	A/G
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: 93 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11082512	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11082514	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11663162	0.83[ASN][1000 genomes]
rs12457740	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12605945	0.81[EUR][1000 genomes]
rs12607898	0.81[EUR][1000 genomes]
rs12608232	0.81[EUR][1000 genomes]
rs12709736	0.81[EUR][1000 genomes]
rs12962307	0.81[EUR][1000 genomes]
rs12962951	0.81[EUR][1000 genomes]
rs12967694	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12969147	0.81[EUR][1000 genomes]
rs13381496	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13381515	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13381523	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13381525	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13381529	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1658908	0.84[ASN][1000 genomes]
rs1791400	0.83[ASN][1000 genomes]
rs1791403	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1808946	0.80[EUR][1000 genomes]
rs36191490	0.81[EUR][1000 genomes]
rs4316847	0.83[ASN][1000 genomes]
rs4335852	0.86[EUR][1000 genomes]
rs4453594	0.81[EUR][1000 genomes]
rs4453596	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4542747	0.81[EUR][1000 genomes]
rs4574015	0.81[EUR][1000 genomes]
rs4627465	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4890317	0.86[EUR][1000 genomes]
rs4890319	0.81[EUR][1000 genomes]
rs4890320	0.80[EUR][1000 genomes]
rs4890628	0.81[EUR][1000 genomes]
rs4890629	0.81[EUR][1000 genomes]
rs4890631	0.81[EUR][1000 genomes]
rs4890632	0.81[EUR][1000 genomes]
rs4890633	0.81[EUR][1000 genomes]
rs55747741	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62096523	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62096524	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62096525	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62096526	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6507676	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6507677	0.87[EUR][1000 genomes]
rs6507680	0.87[EUR][1000 genomes]
rs6507681	0.80[EUR][1000 genomes]
rs6507682	0.86[EUR][1000 genomes]
rs6507690	0.82[EUR][1000 genomes]
rs6507692	0.81[EUR][1000 genomes]
rs6507693	0.81[EUR][1000 genomes]
rs7227847	0.83[EUR][1000 genomes]
rs7228365	0.82[EUR][1000 genomes]
rs7230154	0.82[EUR][1000 genomes]
rs7230995	0.81[EUR][1000 genomes]
rs7231430	0.81[EUR][1000 genomes]
rs7231820	0.81[EUR][1000 genomes]
rs7234588	0.83[ASN][1000 genomes]
rs7234695	0.87[EUR][1000 genomes]
rs7236687	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7241527	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7241829	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7242375	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7245091	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73425119	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8084309	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8084827	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8085138	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8086956	0.84[EUR][1000 genomes]
rs8089015	0.81[ASN][1000 genomes]
rs8090542	0.87[EUR][1000 genomes]
rs8093407	0.80[EUR][1000 genomes]
rs8094070	0.80[EUR][1000 genomes]
rs8094706	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8095729	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8095799	0.82[EUR][1000 genomes]
rs8099202	0.81[EUR][1000 genomes]
rs9675387	0.81[EUR][1000 genomes]
rs9807157	0.82[EUR][1000 genomes]
rs9944715	0.81[EUR][1000 genomes]
rs9944836	0.82[EUR][1000 genomes]
rs9945783	0.83[EUR][1000 genomes]
rs9948282	0.84[EUR][1000 genomes]
rs9949494	0.81[EUR][1000 genomes]
rs9951624	0.80[EUR][1000 genomes]
rs9952469	0.81[EUR][1000 genomes]
rs9954577	0.88[ASN][1000 genomes]
rs9956574	0.82[EUR][1000 genomes]
rs9959813	0.80[EUR][1000 genomes]
rs9959905	0.82[EUR][1000 genomes]
rs9960378	0.82[EUR][1000 genomes]
rs9963153	0.80[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6507670	C18orf25	Cis_1M	lymphoblastoid	RTeQTL

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	chr18:43730400-43734600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr18:43731800-43735600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr18:43732000-43735600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr18:43732000-43735600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr18:43732000-43735600	Enhancers	Dnd41	blood
19	chr18:43732000-43738600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr18:43732200-43735200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr18:43732200-43735600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr18:43732600-43739000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr18:43732800-43735600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr18:43733000-43735200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr18:43733000-43735400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr18:43733000-43737200	Enhancers	HSMMtube	muscle
27	chr18:43733200-43735000	Weak transcription	Fetal Brain Male	brain
28	chr18:43733200-43735400	Weak transcription	Fetal Thymus	thymus
29	chr18:43733200-43735400	Weak transcription	NHLF	lung
30	chr18:43733200-43736800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr18:43733200-43740200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr18:43733200-43740600	Enhancers	HMEC	breast
33	chr18:43733200-43753200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr18:43733400-43736400	Weak transcription	Esophagus	oesophagus
35	chr18:43733600-43734600	Weak transcription	Primary T cells from cord blood	blood
36	chr18:43733600-43734800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr18:43733600-43734800	Weak transcription	NHDF-Ad	bronchial
38	chr18:43733600-43734800	Weak transcription	Osteobl	bone
39	chr18:43733600-43735800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr18:43733600-43735800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr18:43733600-43735800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr18:43733600-43735800	Weak transcription	A549	lung
43	chr18:43733600-43736200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr18:43733600-43738400	Weak transcription	Fetal Heart	heart
45	chr18:43733600-43738400	Weak transcription	Left Ventricle	heart
46	chr18:43733600-43746200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr18:43733600-43746400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr18:43733800-43734800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr18:43733800-43734800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr18:43733800-43734800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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