Variant report

Variant	rs10209278
Chromosome Location	chr2:46891964-46891965
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46883898..46887037-chr2:46888701..46892071,3	K562	blood:
2	chr2:46886567..46889268-chr2:46889432..46892855,3	K562	blood:
3	chr2:46891488..46894291-chr2:46897484..46899463,3	K562	blood:
4	chr2:46891705..46893482-chr2:46919094..46921446,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1004145	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1004146	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1004442	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10206122	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10495936	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1319498	0.94[ASW][hapmap];0.96[CEU][hapmap];0.93[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];0.87[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13399777	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13425511	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1378763	0.88[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1456015	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1456016	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17035510	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1869838	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2017260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2045289	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3814041	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4953411	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73926564	0.83[AFR][1000 genomes]
rs9653520	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10209278	CRIPT	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46884400-46896400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:46884800-46892600	Weak transcription	A549	lung
3	chr2:46885200-46893000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:46889000-46896800	Enhancers	Fetal Muscle Leg	muscle
5	chr2:46889200-46896400	Enhancers	Colon Smooth Muscle	Colon
6	chr2:46889600-46898200	Enhancers	Fetal Stomach	stomach
7	chr2:46890200-46892400	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr2:46890200-46893200	Weak transcription	Fetal Kidney	kidney
9	chr2:46890200-46896400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:46890400-46892000	Weak transcription	Fetal Lung	lung
11	chr2:46890400-46894400	Weak transcription	Aorta	Aorta
12	chr2:46890400-46897000	Enhancers	Rectal Smooth Muscle	rectum
13	chr2:46890600-46892800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:46890800-46893000	Weak transcription	NHDF-Ad	bronchial
15	chr2:46891200-46895800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:46891200-46896400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:46891200-46896600	Weak transcription	HSMMtube	muscle
18	chr2:46891400-46892000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr2:46891400-46893400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:46891400-46898400	Weak transcription	Psoas Muscle	Psoas
21	chr2:46891600-46892000	Weak transcription	Ovary	ovary
22	chr2:46891600-46893400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:46891600-46893400	Weak transcription	Right Atrium	heart
24	chr2:46891600-46896400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:46891800-46892600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr2:46891800-46893000	Weak transcription	Fetal Heart	heart
27	chr2:46891800-46894600	Enhancers	Stomach Smooth Muscle	stomach
28	chr2:46891800-46895000	Weak transcription	Right Ventricle	heart
29	chr2:46891800-46896400	Weak transcription	Left Ventricle	heart

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