Variant report

Variant	rs2137346
Chromosome Location	chr9:8678922-8678923
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10120463	1.00[CHB][hapmap]
rs10511505	0.86[JPT][hapmap]
rs10511506	0.85[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1337808	0.85[JPT][hapmap]
rs1434266	1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16928196	1.00[JPT][hapmap]
rs17652834	1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs2137347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2175595	1.00[JPT][hapmap]
rs66940098	0.81[EUR][1000 genomes]
rs72700354	0.90[AMR][1000 genomes]
rs72700357	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs72700370	0.84[AMR][1000 genomes]
rs72700371	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72700384	0.86[AFR][1000 genomes]
rs9697029	0.82[JPT][hapmap]

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	nsv1031472	chr9:8250901-8712547	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1022796	chr9:8360729-9110046	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv892228	chr9:8482778-8703733	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv892232	chr9:8645448-8698875	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv892233	chr9:8645448-8702964	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv892234	chr9:8645448-8703733	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8674000-8679400	Weak transcription	Ovary	ovary
2	chr9:8674000-8680800	Weak transcription	Fetal Muscle Leg	muscle
3	chr9:8674000-8681000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:8677200-8680200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr9:8677200-8681000	Enhancers	Fetal Brain Male	brain
6	chr9:8677200-8681600	Enhancers	Brain Hippocampus Middle	brain
7	chr9:8677400-8679000	Enhancers	Brain Cingulate Gyrus	brain
8	chr9:8677400-8680000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr9:8677400-8680000	Enhancers	Fetal Brain Female	brain
10	chr9:8677400-8683400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr9:8677400-8683800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr9:8677600-8679800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr9:8677600-8680000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr9:8677600-8680000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr9:8677600-8680000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr9:8677600-8680400	Weak transcription	Fetal Kidney	kidney
17	chr9:8677800-8679800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:8677800-8679800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr9:8677800-8679800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr9:8677800-8680000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr9:8677800-8681400	Enhancers	Brain Substantia Nigra	brain
22	chr9:8678000-8679000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr9:8678000-8679000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr9:8678000-8679000	Enhancers	Brain Anterior Caudate	brain
25	chr9:8678000-8680200	Enhancers	Brain Angular Gyrus	brain
26	chr9:8678000-8681800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr9:8678200-8679000	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr9:8678200-8681600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:8678400-8679200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr9:8678400-8679800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr9:8678600-8679000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr9:8678600-8679000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr9:8678600-8679000	Enhancers	Fetal Lung	lung
34	chr9:8678600-8680000	Enhancers	Brain Germinal Matrix	brain
35	chr9:8678600-8681000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr9:8678800-8679200	Enhancers	NHLF	lung
37	chr9:8678800-8679600	Flanking Active TSS	Fetal Heart	heart

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