Variant report

Variant	rs1186675
Chromosome Location	chr1:160039084-160039085
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11265317	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1131891	0.93[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12092798	0.81[CEU][hapmap]
rs12401728	0.81[CEU][hapmap]
rs12402888	0.93[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12402969	0.88[CEU][hapmap];0.84[AMR][1000 genomes]
rs12408242	0.81[CEU][hapmap]
rs12408584	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12727520	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1884998	0.83[EUR][1000 genomes]
rs2295621	0.81[CEU][hapmap]
rs3747619	0.93[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3761684	0.85[JPT][hapmap]
rs41265757	0.86[EUR][1000 genomes]
rs4656879	0.85[JPT][hapmap]
rs55753565	0.82[EUR][1000 genomes]
rs55780668	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56187338	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56211999	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56282521	0.82[AMR][1000 genomes]
rs61821993	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61822013	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61822015	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs970365	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	esv3327316	chr1:159985477-160151281	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv520189	chr1:160011512-160095625	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv1806746	chr1:160029416-160105927	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv1824420	chr1:160029416-160105927	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv1843994	chr1:160029416-160105927	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv534066	chr1:160029416-160105986	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
7	esv1794281	chr1:160029416-160111565	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	esv1820784	chr1:160029416-160159395	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv534165	chr1:160029416-160187302	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160016600-160039800	Weak transcription	Right Atrium	heart
2	chr1:160032200-160039400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:160032800-160039400	Weak transcription	Fetal Brain Male	brain
4	chr1:160037000-160039600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:160037200-160039400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr1:160037200-160039400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:160037200-160039800	Flanking Active TSS	Brain Germinal Matrix	brain
8	chr1:160037400-160039600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:160037400-160040200	Weak transcription	Fetal Kidney	kidney
10	chr1:160037600-160039600	Weak transcription	Spleen	Spleen
11	chr1:160037600-160040800	Active TSS	Brain Angular Gyrus	brain
12	chr1:160037800-160040600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:160038000-160040200	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr1:160038000-160040600	Active TSS	Brain Cingulate Gyrus	brain
15	chr1:160038000-160041000	Active TSS	Brain Hippocampus Middle	brain
16	chr1:160038200-160040600	Active TSS	Brain Anterior Caudate	brain
17	chr1:160038200-160040800	Active TSS	Brain Substantia Nigra	brain
18	chr1:160038400-160039400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
19	chr1:160038400-160039400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:160038600-160039600	Active TSS	Fetal Brain Female	brain
21	chr1:160038800-160039600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:160038800-160039600	Flanking Active TSS	HepG2	liver
23	chr1:160039000-160039400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
24	chr1:160039000-160039400	Bivalent Enhancer	Dnd41	blood
25	chr1:160039000-160039800	Enhancers	Right Ventricle	heart

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