Variant report

Variant	rs6507714
Chromosome Location	chr18:44519574-44519575
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10853544	0.87[EUR][1000 genomes]
rs10853545	0.92[CEU][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs10853547	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs11082562	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1539878	0.88[CEU][hapmap];0.86[TSI][hapmap];0.94[EUR][1000 genomes]
rs1789152	0.87[EUR][1000 genomes]
rs1893427	0.87[EUR][1000 genomes]
rs1942248	0.87[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs1970668	0.81[TSI][hapmap]
rs2010834	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs2032215	0.92[CEU][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs2051292	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2156047	0.85[ASN][1000 genomes]
rs2156050	0.92[CEU][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes]
rs2187090	0.86[EUR][1000 genomes]
rs2187092	0.88[CEU][hapmap];0.86[TSI][hapmap];0.94[EUR][1000 genomes]
rs2510443	0.80[EUR][1000 genomes]
rs2571024	0.87[EUR][1000 genomes]
rs2571026	0.86[EUR][1000 genomes]
rs2576051	0.88[EUR][1000 genomes]
rs3744863	0.87[EUR][1000 genomes]
rs3892820	0.87[EUR][1000 genomes]
rs4258717	0.87[EUR][1000 genomes]
rs4548968	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4890341	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs4890342	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4890698	0.81[TSI][hapmap]
rs4890699	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs4890703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4890707	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs501062	0.81[TSI][hapmap]
rs504668	0.81[TSI][hapmap]
rs512868	0.85[CHD][hapmap]
rs553456	0.92[CEU][hapmap];0.84[TSI][hapmap]
rs577200	0.83[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.84[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs593340	0.81[TSI][hapmap]
rs605487	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs607780	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs626217	0.92[CEU][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs641366	0.81[TSI][hapmap]
rs642897	0.92[CEU][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs644731	0.81[TSI][hapmap]
rs646128	0.81[TSI][hapmap]
rs649076	0.88[CEU][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs6507709	0.92[CEU][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs6507712	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs658756	0.92[CEU][hapmap];0.84[TSI][hapmap];0.87[EUR][1000 genomes]
rs695001	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs7227700	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs7232114	0.87[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7234570	0.87[EUR][1000 genomes]
rs7240239	0.92[CEU][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs7244013	0.91[EUR][1000 genomes]
rs7244778	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs7245049	0.91[EUR][1000 genomes]
rs8086286	0.81[TSI][hapmap]
rs8089938	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8095373	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs9304336	0.81[TSI][hapmap]
rs9304337	0.83[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.86[TSI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9304338	0.94[EUR][1000 genomes]
rs9304340	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9945443	0.86[EUR][1000 genomes]
rs9962523	0.87[EUR][1000 genomes]
rs998819	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv833639	chr18:44426363-44552719	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv576813	chr18:44481641-44531283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1057629	chr18:44500259-44539223	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1062444	chr18:44503472-44539223	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1062682	chr18:44509052-44539223	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv1056744	chr18:44509052-44581752	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv909609	chr18:44513071-44597092	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	esv1818108	chr18:44519357-44549177	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44515600-44520800	Weak transcription	Psoas Muscle	Psoas
2	chr18:44518400-44521000	Enhancers	HSMM	muscle
3	chr18:44518800-44520000	Enhancers	HSMMtube	muscle
4	chr18:44518800-44520200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr18:44518800-44520400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr18:44518800-44520400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr18:44518800-44520800	Enhancers	NHLF	lung
8	chr18:44519000-44520200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr18:44519000-44520200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr18:44519000-44520200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr18:44519000-44520400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr18:44519000-44520800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr18:44519000-44520800	Enhancers	NHDF-Ad	bronchial
14	chr18:44519000-44521000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr18:44519000-44521000	Enhancers	Fetal Muscle Leg	muscle
16	chr18:44519000-44521200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr18:44519200-44519600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr18:44519200-44520800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr18:44519200-44520800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr18:44519200-44520800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr18:44519400-44519600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr18:44519400-44519600	Enhancers	Colon Smooth Muscle	Colon
23	chr18:44519400-44519800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr18:44519400-44519800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr18:44519400-44519800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr18:44519400-44520000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr18:44519400-44520000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr18:44519400-44520000	Enhancers	HMEC	breast
29	chr18:44519400-44520200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr18:44519400-44520200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr18:44519400-44520200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr18:44519400-44520200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr18:44519400-44520200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr18:44519400-44520200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr18:44519400-44520200	Enhancers	Hela-S3	cervix
36	chr18:44519400-44520400	Enhancers	Osteobl	bone
37	chr18:44519400-44520800	Enhancers	HUES64 Cell Line	embryonic stem cell

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