Variant report

Variant	rs2254193
Chromosome Location	chr9:16801850-16801851
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10733321	1.00[JPT][hapmap]
rs10810618	1.00[JPT][hapmap]
rs10810623	1.00[JPT][hapmap]
rs10810632	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs13289196	1.00[JPT][hapmap]
rs1330300	1.00[JPT][hapmap]
rs1537002	1.00[JPT][hapmap]
rs17743593	0.85[CEU][hapmap]
rs2026803	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2243614	1.00[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2243719	0.87[CEU][hapmap];0.88[AMR][1000 genomes]
rs2243836	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2254468	1.00[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2480924	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2812002	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3927535	1.00[JPT][hapmap];0.91[MEX][hapmap]
rs4961495	1.00[JPT][hapmap]
rs4961760	1.00[CEU][hapmap];0.91[MEX][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6475071	1.00[JPT][hapmap]
rs6475081	1.00[JPT][hapmap]
rs6475082	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs7037653	1.00[JPT][hapmap]
rs73649035	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7850168	1.00[JPT][hapmap]
rs7859111	1.00[JPT][hapmap]
rs7860932	0.82[MEX][hapmap]
rs7873181	1.00[JPT][hapmap]
rs9407777	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.91[EUR][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	nsv530933	chr9:16251206-16830845	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1024799	chr9:16631890-17431827	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2758627	chr9:16641966-16809203	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2759673	chr9:16641966-16809203	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv892650	chr9:16696187-16950860	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv613671	chr9:16792350-16804082	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
7	nsv518608	chr9:16800341-16804082	Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16784400-16802200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr9:16796200-16803800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:16796200-16810400	Weak transcription	HSMM	muscle
4	chr9:16796200-16813400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr9:16796200-16816800	Weak transcription	HSMMtube	muscle
6	chr9:16796400-16802200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr9:16796400-16824400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr9:16796600-16802200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr9:16796600-16809000	Weak transcription	Osteobl	bone
10	chr9:16797600-16802200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr9:16798000-16802000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr9:16798000-16809600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr9:16798200-16802200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:16798200-16802200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr9:16799200-16802000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr9:16799200-16802200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr9:16799200-16813200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr9:16801000-16802000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr9:16801000-16803200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr9:16801000-16803400	Enhancers	Colon Smooth Muscle	Colon
21	chr9:16801200-16802200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr9:16801400-16803000	Enhancers	Fetal Stomach	stomach
23	chr9:16801400-16805000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr9:16801600-16802000	Enhancers	Fetal Lung	lung
25	chr9:16801600-16802000	Weak transcription	Ovary	ovary
26	chr9:16801600-16802000	Weak transcription	NHLF	lung
27	chr9:16801600-16805400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr9:16801800-16802000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr9:16801800-16802600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:16801800-16802800	Enhancers	Rectal Smooth Muscle	rectum
31	chr9:16801800-16804800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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