Variant report

Variant	rs17769101
Chromosome Location	chr2:46888969-46888970
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46883898..46887037-chr2:46888701..46892071,3	K562	blood:
2	chr2:46886567..46889268-chr2:46889432..46892855,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10495935	0.81[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1456014	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17035465	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17035488	0.81[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17035489	0.81[CHB][hapmap];0.91[CHD][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17035491	0.81[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17035492	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17035501	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17035506	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17035507	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1963249	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34967479	0.82[EUR][1000 genomes]
rs41444244	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4580429	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4953409	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4953410	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55864937	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56193071	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58569862	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59778644	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61588471	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62136927	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62136929	0.82[EUR][1000 genomes]
rs62136930	0.82[EUR][1000 genomes]
rs62136931	0.82[EUR][1000 genomes]
rs6742593	0.90[ASN][1000 genomes]
rs67716382	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7587863	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[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	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1009735	chr2:46724523-46913152	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv533112	chr2:46800828-46959977	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
7	nsv873997	chr2:46821640-46984627	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17769101	CRIPT	cis	parietal	SCAN
rs17769101	FAM98B	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46870000-46891000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:46870200-46889600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:46882400-46889800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:46884000-46889800	Weak transcription	Left Ventricle	heart
5	chr2:46884200-46889200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:46884200-46889600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:46884200-46889600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:46884200-46890000	Weak transcription	Right Atrium	heart
9	chr2:46884200-46891000	Weak transcription	Pancreas	Pancrea
10	chr2:46884400-46889400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:46884400-46889600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:46884400-46896400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:46884600-46889200	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:46884600-46889200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:46884600-46889600	Weak transcription	Fetal Heart	heart
16	chr2:46884600-46889600	Weak transcription	NHDF-Ad	bronchial
17	chr2:46884600-46889800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:46884600-46890000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:46884600-46890000	Weak transcription	Right Ventricle	heart
20	chr2:46884800-46889400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:46884800-46889400	Weak transcription	Osteobl	bone
22	chr2:46884800-46889800	Weak transcription	Fetal Lung	lung
23	chr2:46884800-46892600	Weak transcription	A549	lung
24	chr2:46885000-46889600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:46885200-46893000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:46888400-46889200	Bivalent Enhancer	HepG2	liver
27	chr2:46888600-46890000	Weak transcription	Psoas Muscle	Psoas
28	chr2:46888800-46889000	Enhancers	Fetal Muscle Trunk	muscle
29	chr2:46888800-46889000	Weak transcription	Fetal Muscle Leg	muscle
30	chr2:46888800-46889000	Enhancers	Ovary	ovary
31	chr2:46888800-46889600	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr2:46888800-46891600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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