Variant report

Variant	rs1821284
Chromosome Location	chr19:38783581-38783582
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr19:38783482-38783585	K562	blood:	n/a	n/a
2	POLR2A	chr19:38783001-38784551	PANC-1	pancreas:	n/a	n/a
3	CTCF	chr19:38783507-38783618	K562	blood:	n/a	n/a
4	CTCF	chr19:38783462-38783669	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38782943..38784741-chr19:38785007..38786525,2	K562	blood:

Variant related genes	Relation type
ENSG00000200209	TF binding region
ENSG00000200209	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11881305	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12609247	0.84[JPT][hapmap]
rs3178327	0.84[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35436012	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3843754	0.84[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes]
rs4312417	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4802324	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803999	0.93[EUR][1000 genomes]
rs71354995	0.87[EUR][1000 genomes]
rs7257537	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7260137	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1821284	C19orf33	cis	normal skin	skin_eQTL
rs1821284	C19orf33	cis	uninvolved skin	skin_eQTL
rs1821284	C19orf33	cis	lesional skin	skin_eQTL

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38765800-38794800	Weak transcription	Small Intestine	intestine
2	chr19:38769200-38791200	Weak transcription	Fetal Kidney	kidney
3	chr19:38769400-38795200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr19:38770800-38785800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:38771400-38805800	Weak transcription	Right Atrium	heart
6	chr19:38772800-38784200	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr19:38773000-38785400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr19:38773000-38787800	Strong transcription	Fetal Intestine Small	intestine
9	chr19:38773200-38785600	Strong transcription	Fetal Intestine Large	intestine
10	chr19:38773800-38784000	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr19:38774000-38785000	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr19:38774000-38785600	Strong transcription	Duodenum Mucosa	Duodenum
13	chr19:38774800-38784000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr19:38775000-38784200	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr19:38775800-38791000	Weak transcription	Liver	Liver
16	chr19:38776000-38784000	Strong transcription	Primary B cells from peripheral blood	blood
17	chr19:38776000-38784200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
18	chr19:38777000-38791200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr19:38778000-38785400	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr19:38778000-38785400	Genic enhancers	Placenta	Placenta
21	chr19:38778200-38783600	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr19:38778200-38784200	Genic enhancers	Esophagus	oesophagus
23	chr19:38778200-38785800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr19:38778400-38784000	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr19:38778400-38784200	Enhancers	HSMMtube	muscle
26	chr19:38778400-38785200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr19:38778400-38786000	Strong transcription	Aorta	Aorta
28	chr19:38778600-38786400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr19:38778800-38785400	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr19:38778800-38785800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr19:38778800-38785800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:38779000-38784200	Enhancers	HSMM	muscle
33	chr19:38779200-38784000	Strong transcription	Primary B cells from cord blood	blood
34	chr19:38779200-38784800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr19:38779400-38783800	Strong transcription	Primary T cells from cord blood	blood
36	chr19:38779400-38784600	Weak transcription	Brain Hippocampus Middle	brain
37	chr19:38779400-38785200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr19:38779400-38785400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr19:38779400-38785400	Strong transcription	Spleen	Spleen
40	chr19:38779400-38785800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr19:38779600-38783600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr19:38779600-38784600	Weak transcription	Brain Substantia Nigra	brain
43	chr19:38779600-38785000	Weak transcription	Brain Anterior Caudate	brain
44	chr19:38779600-38785600	Genic enhancers	NHEK	skin
45	chr19:38779800-38783600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr19:38779800-38785400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr19:38779800-38789200	Weak transcription	Adipose Nuclei	Adipose
48	chr19:38780000-38784200	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr19:38780200-38784400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr19:38780200-38785600	Genic enhancers	HMEC	breast

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