Variant report

Variant	rs2355720
Chromosome Location	chr19:40440064-40440065
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40417302..40418803-chr19:40438310..40440290,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs170900	0.82[GIH][hapmap]
rs2231738	0.89[CHB][hapmap];0.97[CHD][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs234365	0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs3760919	1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3760923	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3786938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3826919	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs424365	0.81[ASN][1000 genomes]
rs427461	0.83[CHB][hapmap]
rs7249286	0.82[GIH][hapmap]
rs7249890	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8106269	0.94[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs8109718	0.83[ASW][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.98[MKK][hapmap];0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs8109879	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9749001	0.93[ASN][1000 genomes]

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	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription 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 miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv510766	chr19:40344356-40453018	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv482218	chr19:40353963-40440533	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40420200-40441800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr19:40430000-40440800	Weak transcription	Primary B cells from cord blood	blood
3	chr19:40433200-40440200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr19:40434000-40440600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr19:40435800-40440400	Active TSS	Rectal Mucosa Donor 31	rectum
6	chr19:40435800-40440600	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr19:40435800-40440800	Active TSS	Fetal Intestine Large	intestine
8	chr19:40437400-40440600	Active TSS	Fetal Intestine Small	intestine
9	chr19:40438600-40443800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr19:40438800-40440400	Active TSS	Colonic Mucosa	Colon
11	chr19:40439400-40440800	Weak transcription	Lung	lung
12	chr19:40439600-40440400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr19:40439800-40443800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr19:40439800-40443800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr19:40439800-40443800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr19:40439800-40444600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr19:40440000-40440200	Active TSS	Stomach Mucosa	stomach
18	chr19:40440000-40440600	Genic enhancers	Primary T cells from cord blood	blood
19	chr19:40440000-40440600	Active TSS	Fetal Stomach	stomach
20	chr19:40440000-40443800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr19:40440000-40443800	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr19:40440000-40444000	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr19:40440000-40444000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr19:40440000-40444200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr19:40440000-40444200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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