Variant report

Variant	rs56199408
Chromosome Location	chr1:160112207-160112208
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1046995	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10494336	0.95[ASN][1000 genomes]
rs1063125	0.80[ASN][1000 genomes]
rs10908761	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12136519	0.91[ASN][1000 genomes]
rs16831388	0.87[ASN][1000 genomes]
rs16831438	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16831441	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17846707	0.84[ASN][1000 genomes]
rs2070702	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2070703	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2070704	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2753267	0.84[ASN][1000 genomes]
rs3747625	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55967674	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58313172	0.84[ASN][1000 genomes]
rs9660305	0.84[ASN][1000 genomes]
rs9661252	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	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
4	nsv872490	chr1:160083012-160121488	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS 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	13 gene(s)	inside rSNPs	diseases
5	esv3453724	chr1:160098374-160136495	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	esv3453725	chr1:160098456-160136351	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160088000-160146200	Weak transcription	Spleen	Spleen
2	chr1:160090600-160112600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:160100000-160114800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:160103400-160118000	Weak transcription	Right Atrium	heart
5	chr1:160106600-160114200	Weak transcription	Adipose Nuclei	Adipose
6	chr1:160106800-160121600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:160107000-160112800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:160107400-160114600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:160107600-160121400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:160108600-160112800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:160108600-160113000	Strong transcription	Stomach Smooth Muscle	stomach
12	chr1:160109800-160114800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:160110200-160113000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:160110200-160113400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:160110200-160114800	Weak transcription	Fetal Stomach	stomach
16	chr1:160110400-160114400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:160111000-160113400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr1:160111200-160114400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:160111600-160113000	Strong transcription	Skeletal Muscle Male	skeletal muscle
20	chr1:160111600-160113200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:160111800-160112600	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:160111800-160113000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
23	chr1:160111800-160113400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:160111800-160114800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:160111800-160117600	Weak transcription	Left Ventricle	heart
26	chr1:160112000-160113600	Weak transcription	Right Ventricle	heart
27	chr1:160112000-160115200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:160112000-160115200	Weak transcription	Fetal Muscle Leg	muscle
29	chr1:160112200-160114600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr1:160112200-160114800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:160112200-160115800	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:160112200-160118600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr1:160112200-160119000	Weak transcription	HSMMtube	muscle
34	chr1:160112200-160119800	Weak transcription	Aorta	Aorta

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