Variant report

Variant	rs7229883
Chromosome Location	chr18:9185129-9185130
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9181280..9182964-chr18:9185085..9186972,2	K562	blood:

Variant related genes	Relation type
ENSG00000101745	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10451358	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11081465	0.90[CEU][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11081466	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11081467	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1156044	0.91[CEU][hapmap];0.81[CHB][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap]
rs11660603	1.00[CEU][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap]
rs12605173	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12954031	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12958093	0.82[ASN][1000 genomes]
rs12966956	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12970249	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1443596	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs17413793	0.90[CHD][hapmap]
rs1785560	0.91[CEU][hapmap]
rs1893198	0.90[CHD][hapmap]
rs2028656	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2276095	0.81[AMR][1000 genomes]
rs34452937	0.82[ASN][1000 genomes]
rs4078337	0.82[CHB][hapmap]
rs4130178	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4131992	0.82[CHB][hapmap]
rs4148965	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs4318275	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4592725	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4797356	0.81[CHB][hapmap];0.90[CHD][hapmap]
rs4797359	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4798771	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4798772	0.85[CHD][hapmap]
rs4798776	0.95[CHB][hapmap]
rs4798778	0.85[CHD][hapmap]
rs4798782	0.81[ASN][1000 genomes]
rs4798783	1.00[ASN][1000 genomes]
rs4798785	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4798786	0.90[CHD][hapmap]
rs4798789	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4798790	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4798791	0.90[CHD][hapmap]
rs6506644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.95[MKK][hapmap];0.96[TSI][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6506646	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6506648	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.86[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7228251	0.90[CHD][hapmap]
rs7228910	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7231452	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7235514	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7240452	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7505341	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7505670	0.84[AMR][1000 genomes]
rs7505814	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7506291	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs8083078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8084491	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8084822	0.91[CEU][hapmap]
rs8089143	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8089693	0.90[CHD][hapmap]
rs8092135	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.86[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8092613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8092878	0.91[CEU][hapmap]
rs8094556	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs874250	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap]
rs906807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9646498	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9652952	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs977581	0.82[CHB][hapmap]
rs9944905	0.82[ASN][1000 genomes]
rs9945360	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs9946468	0.81[CHB][hapmap]
rs9946695	0.90[CHD][hapmap]
rs9946838	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9948560	0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs9959998	0.82[ASN][1000 genomes]
rs9960129	0.90[CHD][hapmap]
rs998171	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][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	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv909364	chr18:9114096-9186684	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv543642	chr18:9133164-9191739	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9148400-9187200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr18:9162200-9187800	Weak transcription	Thymus	Thymus
3	chr18:9164400-9200600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr18:9165600-9195400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr18:9168400-9185600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr18:9172000-9216200	Weak transcription	Fetal Brain Female	brain
7	chr18:9172400-9187000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr18:9173000-9208400	Weak transcription	NHLF	lung
9	chr18:9174200-9191800	Weak transcription	Fetal Stomach	stomach
10	chr18:9174200-9192000	Weak transcription	HMEC	breast
11	chr18:9174400-9191800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr18:9174600-9188000	Weak transcription	Ovary	ovary
13	chr18:9174600-9188000	Weak transcription	HSMMtube	muscle
14	chr18:9174600-9188200	Weak transcription	Fetal Thymus	thymus
15	chr18:9174600-9233600	Weak transcription	Spleen	Spleen
16	chr18:9174800-9187000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr18:9174800-9187000	Weak transcription	Esophagus	oesophagus
18	chr18:9174800-9187000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr18:9174800-9188000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr18:9174800-9191800	Weak transcription	Lung	lung
21	chr18:9174800-9211000	Weak transcription	Hela-S3	cervix
22	chr18:9174800-9233600	Weak transcription	Pancreas	Pancrea
23	chr18:9176600-9195000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr18:9177000-9188000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr18:9177400-9188400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr18:9177800-9188200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr18:9178000-9188000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr18:9178000-9221800	Weak transcription	Fetal Heart	heart
29	chr18:9179800-9188800	Weak transcription	Left Ventricle	heart
30	chr18:9180200-9214200	Weak transcription	A549	lung
31	chr18:9180800-9188000	Weak transcription	Brain Anterior Caudate	brain
32	chr18:9180800-9188800	Weak transcription	Aorta	Aorta
33	chr18:9181000-9185600	Weak transcription	Brain Substantia Nigra	brain
34	chr18:9181000-9194800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr18:9181000-9194800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr18:9181200-9185200	Weak transcription	Brain Angular Gyrus	brain
37	chr18:9181200-9199800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr18:9181600-9185400	Weak transcription	Brain Hippocampus Middle	brain
39	chr18:9181600-9188200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr18:9181600-9214200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr18:9181800-9185200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr18:9181800-9191600	Weak transcription	NHEK	skin
43	chr18:9182200-9185400	Strong transcription	Fetal Lung	lung
44	chr18:9182200-9185600	Strong transcription	Dnd41	blood
45	chr18:9182200-9188000	Weak transcription	Psoas Muscle	Psoas
46	chr18:9182600-9185200	Weak transcription	Colonic Mucosa	Colon
47	chr18:9182600-9194600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr18:9182600-9198600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr18:9182800-9185400	Strong transcription	HSMM	muscle
50	chr18:9183000-9185200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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