Variant report

Variant	rs7258111
Chromosome Location	chr19:40436176-40436177
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10403646	0.81[AMR][1000 genomes]
rs10410695	1.00[EUR][1000 genomes]
rs10418448	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10419218	1.00[EUR][1000 genomes]
rs10420514	1.00[EUR][1000 genomes]
rs10420687	1.00[EUR][1000 genomes]
rs10421243	1.00[EUR][1000 genomes]
rs10423298	1.00[EUR][1000 genomes]
rs10427117	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11883159	1.00[EUR][1000 genomes]
rs13382054	1.00[EUR][1000 genomes]
rs16973596	1.00[EUR][1000 genomes]
rs16973601	1.00[EUR][1000 genomes]
rs16973603	1.00[EUR][1000 genomes]
rs170898	1.00[EUR][1000 genomes]
rs234297	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234307	1.00[EUR][1000 genomes]
rs234312	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234316	1.00[EUR][1000 genomes]
rs234319	1.00[EUR][1000 genomes]
rs234321	1.00[EUR][1000 genomes]
rs234322	1.00[EUR][1000 genomes]
rs234327	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234339	1.00[EUR][1000 genomes]
rs234342	1.00[EUR][1000 genomes]
rs2542302	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28661993	1.00[EUR][1000 genomes]
rs28776318	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28832070	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs337795	1.00[EUR][1000 genomes]
rs57342065	1.00[EUR][1000 genomes]
rs59707868	1.00[EUR][1000 genomes]
rs60631264	1.00[EUR][1000 genomes]
rs61424085	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7245930	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7250945	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7257627	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7258718	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73930675	1.00[EUR][1000 genomes]
rs73930678	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73930679	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8104264	1.00[EUR][1000 genomes]
rs8111741	1.00[EUR][1000 genomes]
rs9783944	0.81[AMR][1000 genomes];1.00[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	esv3329492	chr19:40198535-40437035	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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:20 , 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	chr19:40433400-40438600	Weak transcription	Placenta	Placenta
5	chr19:40434000-40440000	Weak transcription	Stomach Mucosa	stomach
6	chr19:40434000-40440600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr19:40434200-40438600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr19:40434200-40440000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr19:40434200-40440000	Weak transcription	Fetal Stomach	stomach
10	chr19:40434400-40437000	Weak transcription	Colonic Mucosa	Colon
11	chr19:40434400-40439200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr19:40434600-40440000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr19:40434600-40440000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr19:40434800-40436400	Weak transcription	Primary T cells from cord blood	blood
15	chr19:40434800-40439800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr19:40434800-40439800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr19:40434800-40440000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr19:40435800-40440400	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr19:40435800-40440600	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr19:40435800-40440800	Active TSS	Fetal Intestine Large	intestine

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