Variant report

Variant	rs4802608
Chromosome Location	chr19:39054157-39054158
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1004795	1.00[AFR][1000 genomes]
rs1004796	1.00[AFR][1000 genomes]
rs12459749	1.00[AFR][1000 genomes]
rs12459780	1.00[AFR][1000 genomes]
rs12459845	1.00[AFR][1000 genomes]
rs12461789	1.00[AFR][1000 genomes]
rs2292797	1.00[AFR][1000 genomes]
rs2292798	1.00[AFR][1000 genomes]
rs2292799	1.00[AFR][1000 genomes]
rs2292800	1.00[AFR][1000 genomes]
rs2292801	1.00[AFR][1000 genomes]
rs34754809	1.00[AFR][1000 genomes]
rs3786830	1.00[AFR][1000 genomes]
rs3829976	1.00[AFR][1000 genomes]
rs45613041	1.00[AFR][1000 genomes]
rs4802578	1.00[AFR][1000 genomes]
rs4802579	1.00[AFR][1000 genomes]
rs4802582	1.00[AFR][1000 genomes]
rs4802583	1.00[AFR][1000 genomes]
rs4802584	1.00[AFR][1000 genomes]
rs4802587	1.00[AFR][1000 genomes]
rs4802588	1.00[AFR][1000 genomes]
rs4802589	1.00[AFR][1000 genomes]
rs4802596	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv911660	chr19:38852357-39060238	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv911663	chr19:38899548-39101879	Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv833824	chr19:38914618-39084758	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv911665	chr19:38924814-39101879	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv833826	chr19:38945106-39184547	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	nsv833827	chr19:38993054-39184547	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv1058902	chr19:39025940-39078574	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1064490	chr19:39029788-39078574	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38985200-39081800	Weak transcription	Psoas Muscle	Psoas
2	chr19:39030000-39054600	Strong transcription	Fetal Muscle Leg	muscle
3	chr19:39030200-39055200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr19:39035200-39066400	Strong transcription	Skeletal Muscle Male	skeletal muscle
5	chr19:39036000-39076400	Weak transcription	Brain Substantia Nigra	brain
6	chr19:39040000-39054600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr19:39045000-39055600	Weak transcription	Right Atrium	heart
8	chr19:39049800-39054600	Strong transcription	Fetal Muscle Trunk	muscle
9	chr19:39050800-39055400	Weak transcription	A549	lung
10	chr19:39051000-39056200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr19:39051200-39055400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr19:39051200-39055600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr19:39051600-39066400	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr19:39051800-39055400	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr19:39051800-39055400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr19:39051800-39056200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr19:39051800-39056400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr19:39052000-39055000	Strong transcription	HSMMtube	muscle
19	chr19:39052000-39055200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr19:39052000-39055400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr19:39052200-39054600	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr19:39052200-39055200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr19:39052800-39055200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr19:39052800-39055600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr19:39053000-39054400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr19:39053200-39077800	Weak transcription	Brain Hippocampus Middle	brain
27	chr19:39053200-39086800	Weak transcription	Brain Angular Gyrus	brain
28	chr19:39053200-39086800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr19:39053400-39054400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr19:39053400-39055600	Weak transcription	Spleen	Spleen
31	chr19:39053400-39075400	Weak transcription	Brain Anterior Caudate	brain
32	chr19:39053600-39055600	Weak transcription	Gastric	stomach
33	chr19:39053800-39055000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr19:39053800-39055200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr19:39053800-39055400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr19:39053800-39055400	Weak transcription	Esophagus	oesophagus
37	chr19:39053800-39055400	Weak transcription	GM12878-XiMat	blood
38	chr19:39053800-39056000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr19:39053800-39061400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr19:39054000-39054400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr19:39054000-39055200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr19:39054000-39055200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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