Variant report

Variant	rs56742494
Chromosome Location	chr8:19416907-19416908
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	chr8:19263735..19266088-chr8:19414623..19416973,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11986774	1.00[AMR][1000 genomes]
rs11986817	1.00[AMR][1000 genomes]
rs11986883	1.00[AMR][1000 genomes]
rs11989977	1.00[AMR][1000 genomes]
rs11990126	1.00[AMR][1000 genomes]
rs11992591	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57673188	1.00[AMR][1000 genomes]
rs58944821	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59604995	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60086960	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	18 gene(s)	inside rSNPs	diseases
3	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	esv34007	chr8:19252602-19482098	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv890624	chr8:19319061-19456270	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv610753	chr8:19364883-19439977	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv1018057	chr8:19370830-19435399	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1016276	chr8:19374998-19435147	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv890626	chr8:19383697-19483259	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv890627	chr8:19389865-19561997	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19379400-19434200	Weak transcription	Placenta	Placenta
2	chr8:19401400-19434000	Weak transcription	Hela-S3	cervix
3	chr8:19409000-19437400	Weak transcription	Gastric	stomach
4	chr8:19409200-19418000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr8:19409200-19418000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr8:19412400-19418000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr8:19412800-19417000	Enhancers	A549	lung
8	chr8:19413200-19417800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:19413800-19418000	Weak transcription	Spleen	Spleen
10	chr8:19413800-19418200	Weak transcription	Right Atrium	heart
11	chr8:19414000-19418000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:19415000-19417400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:19415000-19417800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:19415000-19418000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr8:19415200-19417000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr8:19415200-19418200	Weak transcription	Right Ventricle	heart
17	chr8:19415200-19419000	Weak transcription	Fetal Thymus	thymus
18	chr8:19415200-19419000	Weak transcription	Left Ventricle	heart
19	chr8:19415200-19422400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:19415400-19417600	Weak transcription	Primary B cells from cord blood	blood
21	chr8:19415400-19418000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:19415400-19418000	Weak transcription	Thymus	Thymus
23	chr8:19415400-19418000	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr8:19415400-19424400	Weak transcription	Aorta	Aorta
25	chr8:19415800-19417000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:19415800-19417000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr8:19415800-19417200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr8:19415800-19417400	Weak transcription	Primary T cells from cord blood	blood
29	chr8:19415800-19418000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr8:19415800-19419000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr8:19416000-19417000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr8:19416000-19417400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr8:19416000-19418000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:19416600-19419000	Weak transcription	Brain Anterior Caudate	brain
35	chr8:19416800-19417000	Enhancers	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links