Variant report

Variant	rs597736
Chromosome Location	chr18:7723486-7723487
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10163896	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10502359	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10853357	0.91[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs11660897	0.83[ASN][1000 genomes]
rs12165070	0.88[ASN][1000 genomes]
rs12605941	0.84[ASN][1000 genomes]
rs1446078	0.91[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs1446085	0.83[ASN][1000 genomes]
rs1530515	0.86[CHB][hapmap];0.88[ASN][1000 genomes]
rs1539788	0.95[EUR][1000 genomes]
rs1664981	0.97[EUR][1000 genomes]
rs1664984	0.82[EUR][1000 genomes]
rs16952383	0.91[CHB][hapmap];0.88[ASN][1000 genomes]
rs16952451	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs16952467	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs16952487	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1940344	0.99[EUR][1000 genomes]
rs2027670	0.90[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs2027671	0.96[ASN][1000 genomes]
rs2121189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4121621	0.90[CHB][hapmap]
rs4424981	0.96[ASN][1000 genomes]
rs4429368	0.96[ASN][1000 genomes]
rs4455047	0.91[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs4797301	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs4798585	0.84[ASN][1000 genomes]
rs4798586	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs4798587	1.00[CHB][hapmap]
rs4798590	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs4798591	0.84[ASN][1000 genomes]
rs582641	0.99[EUR][1000 genomes]
rs587115	0.98[EUR][1000 genomes]
rs587215	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs587368	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs589371	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs598136	0.99[EUR][1000 genomes]
rs599960	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs60336960	0.96[ASN][1000 genomes]
rs605077	0.99[EUR][1000 genomes]
rs608028	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs616019	0.92[CEU][hapmap]
rs626015	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs640128	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs644399	0.96[CEU][hapmap];0.99[EUR][1000 genomes]
rs649301	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs6506527	0.95[EUR][1000 genomes]
rs6506530	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs658523	0.95[EUR][1000 genomes]
rs658744	0.96[CEU][hapmap];0.99[EUR][1000 genomes]
rs658864	0.96[CEU][hapmap];0.99[EUR][1000 genomes]
rs659335	0.98[EUR][1000 genomes]
rs661828	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs664040	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs664592	0.88[CEU][hapmap]
rs667517	0.87[EUR][1000 genomes]
rs677083	0.99[EUR][1000 genomes]
rs677443	0.99[EUR][1000 genomes]
rs678492	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs679539	0.92[CEU][hapmap]
rs689014	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs7228006	0.91[CHB][hapmap];0.88[ASN][1000 genomes]
rs7229937	0.96[ASN][1000 genomes]
rs7230507	0.96[ASN][1000 genomes]
rs7230553	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7230840	0.90[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs7230847	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7230935	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7236636	0.88[ASN][1000 genomes]
rs7243127	0.96[ASN][1000 genomes]
rs7244457	0.96[ASN][1000 genomes]
rs7244628	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7244983	0.90[CHB][hapmap];0.88[ASN][1000 genomes]
rs7245239	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs727037	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73391505	0.88[ASN][1000 genomes]
rs73391515	0.88[ASN][1000 genomes]
rs73391519	0.87[ASN][1000 genomes]
rs73391522	0.88[ASN][1000 genomes]
rs73391531	0.96[ASN][1000 genomes]
rs73391550	0.88[ASN][1000 genomes]
rs73391563	0.88[ASN][1000 genomes]
rs73391582	0.93[ASN][1000 genomes]
rs8084932	0.88[ASN][1000 genomes]
rs8085131	0.91[CHB][hapmap];0.88[ASN][1000 genomes]
rs8089176	0.96[ASN][1000 genomes]
rs8089769	0.96[ASN][1000 genomes]
rs8093450	0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs8095773	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9953589	0.82[EUR][1000 genomes]
rs9964890	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs9966932	0.91[CHB][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064597	chr18:7169490-7762738	Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv543636	chr18:7169490-7762738	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv458016	chr18:7488133-7934001	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv576399	chr18:7488133-7934001	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2762810	chr18:7492090-7924728	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv458017	chr18:7689201-7747873	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv576420	chr18:7689201-7747873	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv470406	chr18:7700462-7747873	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7721600-7724000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr18:7721800-7723800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr18:7722200-7724000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr18:7722200-7727200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr18:7722800-7723800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr18:7722800-7723800	Enhancers	Fetal Heart	heart
7	chr18:7722800-7724200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr18:7722800-7724400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr18:7722800-7724600	Enhancers	Fetal Kidney	kidney
10	chr18:7723000-7723800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr18:7723000-7724000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr18:7723000-7724200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr18:7723000-7724200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr18:7723000-7724200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr18:7723000-7727400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr18:7723000-7733800	Weak transcription	A549	lung
17	chr18:7723400-7723800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr18:7723400-7723800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr18:7723400-7723800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr18:7723400-7723800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr18:7723400-7723800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr18:7723400-7724000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr18:7723400-7724000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr18:7723400-7724000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr18:7723400-7724000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr18:7723400-7724000	Enhancers	Placenta	Placenta
27	chr18:7723400-7724000	Enhancers	Left Ventricle	heart
28	chr18:7723400-7724000	Enhancers	Psoas Muscle	Psoas
29	chr18:7723400-7724000	Enhancers	Right Ventricle	heart
30	chr18:7723400-7724600	Enhancers	HUES48 Cell Line	embryonic stem cell

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