Variant report

Variant	rs72908555
Chromosome Location	chr1:58064898-58064899
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11808213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12411177	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12562145	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1534047	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17470462	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1829985	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2030719	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2140705	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4912266	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61769601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6587785	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74077726	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7528953	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7532306	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1001771	chr1:57837089-58068175	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv523574	chr1:58018103-58087789	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58061400-58065200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr1:58061400-58066000	Enhancers	H9 Cell Line	embryonic stem cell
3	chr1:58061400-58066000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr1:58061400-58067200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:58061800-58065200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:58062400-58066400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:58063000-58069600	Weak transcription	Stomach Mucosa	stomach
8	chr1:58063200-58065600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:58063400-58066200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:58063800-58065600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr1:58063800-58066600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr1:58064000-58065600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:58064000-58066000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:58064000-58066200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr1:58064000-58066400	Enhancers	Fetal Muscle Leg	muscle
16	chr1:58064000-58068200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:58064200-58065200	Enhancers	HSMMtube	muscle
18	chr1:58064200-58065600	Enhancers	Fetal Muscle Trunk	muscle
19	chr1:58064200-58065800	Enhancers	Right Ventricle	heart
20	chr1:58064200-58065800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr1:58064200-58066000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:58064200-58066000	Enhancers	Fetal Stomach	stomach
23	chr1:58064200-58066200	Enhancers	Fetal Brain Male	brain
24	chr1:58064200-58066400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:58064200-58067200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:58064200-58067600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr1:58064400-58065000	Flanking Active TSS	Fetal Heart	heart
28	chr1:58064400-58065400	Enhancers	Rectal Smooth Muscle	rectum
29	chr1:58064400-58065600	Enhancers	Fetal Lung	lung
30	chr1:58064400-58065600	Enhancers	Placenta	Placenta
31	chr1:58064400-58065800	Enhancers	Fetal Kidney	kidney
32	chr1:58064400-58066400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr1:58064400-58066600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:58064600-58065200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:58064600-58065600	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr1:58064800-58065200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:58064800-58065200	Weak transcription	Left Ventricle	heart
38	chr1:58064800-58065200	Enhancers	Stomach Smooth Muscle	stomach
39	chr1:58064800-58065400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:58064800-58065600	Enhancers	Fetal Brain Female	brain
41	chr1:58064800-58065800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:58064800-58066000	Enhancers	Brain Germinal Matrix	brain
43	chr1:58064800-58066400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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