Variant report

Variant	rs11207071
Chromosome Location	chr1:58065660-58065661
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11207070	0.85[EUR][1000 genomes]
rs12021572	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12032941	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12036660	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12741785	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12746057	0.85[EUR][1000 genomes]
rs1341322	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1829983	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1829984	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2006799	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7555213	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs952643	0.90[EUR][1000 genomes];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:38 , 50 per page) page: 1

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

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