Variant report

Variant	rs7257627
Chromosome Location	chr19:40465961-40465962
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40463962..40466108-chr19:40471183..40473950,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10403646	1.00[AMR][1000 genomes]
rs10410695	1.00[EUR][1000 genomes]
rs10418448	1.00[EUR][1000 genomes]
rs10419218	1.00[EUR][1000 genomes]
rs10420514	0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs10420687	1.00[EUR][1000 genomes]
rs10421243	1.00[EUR][1000 genomes]
rs10423298	0.93[YRI][hapmap];1.00[EUR][1000 genomes]
rs10427117	0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11883159	1.00[EUR][1000 genomes]
rs13382054	1.00[EUR][1000 genomes]
rs170898	1.00[EUR][1000 genomes]
rs234297	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234307	1.00[EUR][1000 genomes]
rs234312	0.90[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	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234339	1.00[EUR][1000 genomes]
rs234342	1.00[EUR][1000 genomes]
rs2542302	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28661993	1.00[EUR][1000 genomes]
rs28776318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28832070	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs337795	1.00[EUR][1000 genomes]
rs57342065	1.00[EUR][1000 genomes]
rs58348431	1.00[EUR][1000 genomes]
rs59707868	1.00[EUR][1000 genomes]
rs60631264	1.00[EUR][1000 genomes]
rs61424085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7245930	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7250945	0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7258111	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7258718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930675	1.00[EUR][1000 genomes]
rs73930678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73930679	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8111518	1.00[EUR][1000 genomes]
rs8111741	1.00[EUR][1000 genomes]
rs9630860	1.00[EUR][1000 genomes]
rs9630868	1.00[EUR][1000 genomes]
rs9783944	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40453000-40466000	Weak transcription	Fetal Intestine Small	intestine
2	chr19:40457400-40475600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr19:40458400-40466400	Enhancers	Primary B cells from peripheral blood	blood
4	chr19:40459600-40466200	Enhancers	Primary B cells from cord blood	blood
5	chr19:40460200-40474800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr19:40460800-40476000	Weak transcription	Psoas Muscle	Psoas
7	chr19:40461600-40475400	Weak transcription	Brain Substantia Nigra	brain
8	chr19:40462400-40466200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:40463400-40466400	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr19:40463600-40466400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr19:40463800-40466400	Enhancers	Primary T cells fromperipheralblood	blood
12	chr19:40463800-40467400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr19:40464000-40467200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr19:40464000-40467200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr19:40464000-40475000	Weak transcription	GM12878-XiMat	blood
16	chr19:40464800-40466200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr19:40464800-40466200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr19:40464800-40466400	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr19:40464800-40467000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr19:40465000-40466400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr19:40465000-40466400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr19:40465000-40467200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr19:40465000-40467600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr19:40465000-40467600	Enhancers	Placenta	Placenta
25	chr19:40465200-40466200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr19:40465200-40467000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr19:40465200-40467200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr19:40465200-40467600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
29	chr19:40465400-40474200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr19:40465600-40466400	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr19:40465800-40466400	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr19:40465800-40467200	Enhancers	Primary T cells from cord blood	blood

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