Variant report

Variant	rs1005451
Chromosome Location	chr19:45652079-45652080
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:45651718..45653898-chr19:45656029..45658572,2	K562	blood:
2	chr19:45639467..45643704-chr19:45647170..45652290,6	K562	blood:
3	chr19:45648955..45652838-chr19:45653248..45655414,5	K562	blood:

Variant related genes	Relation type
ENSG00000267044	Chromatin interaction
ENSG00000104866	Chromatin interaction
ENSG00000179846	Chromatin interaction
ENSG00000267037	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10408847	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs10413253	0.87[EUR][1000 genomes]
rs10425074	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12459074	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs2041262	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3925162	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs57565080	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912142	chr19:45570051-45708758	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription 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 miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv833842	chr19:45593888-45684308	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv833843	chr19:45593888-45793682	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv912143	chr19:45624303-45767214	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv3403042	chr19:45626786-45874859	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv912144	chr19:45636319-45687446	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv522341	chr19:45640124-45664218	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	esv1795888	chr19:45650386-45681988	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1005451	Hs.466924	cis	multi-tissue	Pritchard

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45625000-45654200	Weak transcription	NHDF-Ad	bronchial
2	chr19:45626200-45653400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr19:45627600-45655600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:45630800-45653200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:45633600-45655200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr19:45634400-45653000	Weak transcription	NH-A	brain
7	chr19:45638800-45652400	Weak transcription	Small Intestine	intestine
8	chr19:45639800-45656800	Weak transcription	K562	blood
9	chr19:45640000-45653800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr19:45640000-45654400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr19:45640400-45655000	Weak transcription	Fetal Heart	heart
12	chr19:45641400-45654600	Weak transcription	HSMM	muscle
13	chr19:45641600-45654000	Weak transcription	HSMMtube	muscle
14	chr19:45641800-45653800	Weak transcription	Stomach Mucosa	stomach
15	chr19:45642000-45652600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr19:45642000-45653600	Strong transcription	Fetal Intestine Small	intestine
17	chr19:45642000-45655200	Weak transcription	GM12878-XiMat	blood
18	chr19:45642000-45655400	Weak transcription	Right Atrium	heart
19	chr19:45642400-45652600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr19:45642800-45652200	Strong transcription	Fetal Intestine Large	intestine
21	chr19:45642800-45652400	Strong transcription	Thymus	Thymus
22	chr19:45642800-45653000	Strong transcription	Fetal Muscle Trunk	muscle
23	chr19:45642800-45653400	Strong transcription	Fetal Stomach	stomach
24	chr19:45643000-45653200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr19:45643000-45654200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr19:45643000-45654200	Strong transcription	Gastric	stomach
27	chr19:45643400-45653600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr19:45643600-45653000	Strong transcription	Pancreas	Pancrea
29	chr19:45643600-45654000	Weak transcription	HMEC	breast
30	chr19:45643800-45652800	Strong transcription	Right Ventricle	heart
31	chr19:45643800-45653400	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr19:45644600-45653800	Weak transcription	HepG2	liver
33	chr19:45646000-45655000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr19:45646600-45654000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr19:45646600-45655000	Weak transcription	Primary B cells from cord blood	blood
36	chr19:45646800-45655000	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr19:45647000-45652800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr19:45647000-45652800	Weak transcription	Brain Angular Gyrus	brain
39	chr19:45647000-45653000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr19:45647000-45654400	Weak transcription	Brain Substantia Nigra	brain
41	chr19:45647000-45654600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr19:45647000-45655400	Weak transcription	Left Ventricle	heart
43	chr19:45647200-45654200	Weak transcription	Fetal Lung	lung
44	chr19:45648600-45654800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr19:45649000-45653200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:45649000-45653600	Weak transcription	Psoas Muscle	Psoas
47	chr19:45649600-45654200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr19:45649800-45652200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr19:45649800-45654400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr19:45649800-45654800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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