Variant report

Variant	rs72908597
Chromosome Location	chr1:58090970-58090971
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10493229	1.00[EUR][1000 genomes]
rs10889057	1.00[EUR][1000 genomes]
rs11207053	1.00[EUR][1000 genomes]
rs11803909	1.00[EUR][1000 genomes]
rs11805586	1.00[EUR][1000 genomes]
rs11810273	1.00[EUR][1000 genomes]
rs12067444	1.00[EUR][1000 genomes]
rs12067490	1.00[EUR][1000 genomes]
rs1341311	1.00[EUR][1000 genomes]
rs1524706	1.00[EUR][1000 genomes]
rs1524712	1.00[EUR][1000 genomes]
rs1524731	1.00[EUR][1000 genomes]
rs1534048	1.00[EUR][1000 genomes]
rs1815685	1.00[EUR][1000 genomes]
rs1880442	1.00[EUR][1000 genomes]
rs1935045	1.00[EUR][1000 genomes]
rs2204376	1.00[EUR][1000 genomes]
rs2265623	1.00[EUR][1000 genomes]
rs2691443	1.00[EUR][1000 genomes]
rs2691444	1.00[EUR][1000 genomes]
rs2691445	1.00[EUR][1000 genomes]
rs2691447	1.00[EUR][1000 genomes]
rs2691448	1.00[EUR][1000 genomes]
rs2691455	1.00[EUR][1000 genomes]
rs2793641	1.00[EUR][1000 genomes]
rs2805850	1.00[EUR][1000 genomes]
rs2805851	1.00[EUR][1000 genomes]
rs28391765	1.00[EUR][1000 genomes]
rs28621926	1.00[EUR][1000 genomes]
rs4310463	1.00[EUR][1000 genomes]
rs4348747	1.00[EUR][1000 genomes]
rs4526638	1.00[EUR][1000 genomes]
rs4529731	1.00[EUR][1000 genomes]
rs4553222	1.00[EUR][1000 genomes]
rs4554738	1.00[EUR][1000 genomes]
rs56873272	1.00[EUR][1000 genomes]
rs58873103	1.00[EUR][1000 genomes]
rs60116819	1.00[EUR][1000 genomes]
rs60867983	1.00[EUR][1000 genomes]
rs72910509	1.00[AMR][1000 genomes]
rs7551052	1.00[EUR][1000 genomes]
rs947237	1.00[EUR][1000 genomes]
rs947238	1.00[EUR][1000 genomes]
rs947241	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1012555	chr1:57950355-58103389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1015057	chr1:57976993-58793962	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv530017	chr1:58002290-58669736	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv871684	chr1:58021206-58096379	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58085400-58093600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:58087800-58091600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr1:58088200-58092200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr1:58088400-58091000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr1:58088400-58092200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:58088400-58092200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:58088800-58091000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:58089200-58091400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:58089600-58092000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:58089800-58091200	Weak transcription	Fetal Brain Female	brain
11	chr1:58089800-58092200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:58090000-58091000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:58090000-58098200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:58090200-58091000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:58090200-58091000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:58090200-58098000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:58090200-58098000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:58090600-58091200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:58090600-58091200	Weak transcription	Fetal Heart	heart
20	chr1:58090800-58091000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:58090800-58091400	Enhancers	Fetal Lung	lung
22	chr1:58090800-58092200	Enhancers	Fetal Brain Male	brain

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