Variant report

Variant	rs2252883
Chromosome Location	chr9:27192330-27192331
allele	C/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:15)

rs_ID	r²[population]
rs2145926	0.91[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs4242670	0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs481294	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs489347	0.86[JPT][hapmap]
rs491892	0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs510101	0.83[CHB][hapmap]
rs511586	0.96[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs521239	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs573787	0.89[EUR][1000 genomes]
rs651345	0.87[CHB][hapmap];0.81[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs655880	0.83[CHB][hapmap];0.83[ASN][1000 genomes]
rs669102	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs669545	0.91[CHB][hapmap]
rs680399	0.87[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs686256	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016733	chr9:27073650-27264576	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1022313	chr9:27083369-27250505	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1017802	chr9:27088160-27262682	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1019104	chr9:27088160-27358206	Enhancers Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv6512	chr9:27155677-27200455	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv892864	chr9:27176554-27296705	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv466335	chr9:27179244-27234029	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv613946	chr9:27179244-27234029	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv1009235	chr9:27189804-27196618	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:27151000-27229200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:27165400-27198200	Weak transcription	Ovary	ovary
3	chr9:27165400-27219200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:27166200-27205800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:27166200-27229000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr9:27178400-27197200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr9:27180800-27230600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr9:27182200-27192400	Weak transcription	Fetal Muscle Leg	muscle
9	chr9:27182600-27194000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr9:27184000-27197800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:27184200-27192600	Weak transcription	Lung	lung
12	chr9:27184200-27193800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr9:27184200-27194000	Weak transcription	Psoas Muscle	Psoas
14	chr9:27184200-27212600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr9:27191000-27192800	Weak transcription	Left Ventricle	heart
16	chr9:27191200-27192400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:27191800-27192400	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr9:27191800-27193600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr9:27192000-27192400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr9:27192000-27192800	Enhancers	Colon Smooth Muscle	Colon
21	chr9:27192000-27193200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr9:27192000-27196800	Enhancers	HUVEC	blood vessel
23	chr9:27192200-27192400	Enhancers	NHLF	lung
24	chr9:27192200-27192600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:27192200-27193000	Active TSS	Aorta	Aorta
26	chr9:27192200-27193000	Enhancers	Fetal Stomach	stomach
27	chr9:27192200-27193000	Enhancers	Rectal Smooth Muscle	rectum
28	chr9:27192200-27193000	Enhancers	Stomach Smooth Muscle	stomach
29	chr9:27192200-27193000	Enhancers	HSMM	muscle
30	chr9:27192200-27193000	Enhancers	HSMMtube	muscle
31	chr9:27192200-27193400	Enhancers	Adipose Nuclei	Adipose
32	chr9:27192200-27194200	Weak transcription	Osteobl	bone

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