Variant report

Variant	rs970365
Chromosome Location	chr1:160034676-160034677
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:160033050..160035856-chr1:160052721..160054734,2	K562	blood:
2	chr1:160028164..160030175-chr1:160033986..160035609,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11265317	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1131891	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1186675	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12402888	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12402969	0.84[AMR][1000 genomes]
rs12408584	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12727520	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1884998	0.81[EUR][1000 genomes]
rs3747619	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41265757	0.83[EUR][1000 genomes]
rs55780668	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56187338	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56211999	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56282521	0.82[AMR][1000 genomes]
rs61821993	0.91[AFR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61822013	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61822015	0.98[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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160016600-160039800	Weak transcription	Right Atrium	heart
2	chr1:160019200-160036400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:160031000-160037000	Enhancers	HepG2	liver
4	chr1:160032200-160039400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:160032400-160035000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:160032600-160036400	Enhancers	Brain Anterior Caudate	brain
7	chr1:160032600-160036600	Enhancers	Brain Angular Gyrus	brain
8	chr1:160032600-160036600	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr1:160032800-160039400	Weak transcription	Fetal Brain Male	brain
10	chr1:160033000-160036200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:160033000-160036400	Enhancers	Brain Substantia Nigra	brain
12	chr1:160033000-160036800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:160033200-160035400	Weak transcription	Brain Germinal Matrix	brain
14	chr1:160033200-160036400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:160033400-160035400	Enhancers	Brain Hippocampus Middle	brain
16	chr1:160033400-160036200	Enhancers	Brain Cingulate Gyrus	brain
17	chr1:160033400-160036800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:160033400-160036800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:160033600-160034800	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr1:160033600-160035400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:160033600-160035800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:160033600-160036600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:160034000-160035000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:160034400-160035400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:160034600-160034800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr1:160034600-160034800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr1:160034600-160034800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr1:160034600-160034800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr1:160034600-160035000	Enhancers	Fetal Intestine Large	intestine
30	chr1:160034600-160035400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:160034600-160036200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
32	chr1:160034600-160036800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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