Variant report

Variant	rs8104823
Chromosome Location	chr19:38778617-38778618
allele	A/G
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	SPI1	chr19:38778220-38778750	HL-60	blood:	n/a	n/a
2	SPI1	chr19:38778262-38778618	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:38751509..38754892-chr19:38775183..38778816,3	K562	blood:
2	chr19:38776349..38778881-chr19:38795381..38797610,2	K562	blood:
3	chr19:38777648..38780643-chr19:38825334..38827865,2	K562	blood:

Variant related genes	Relation type
SPINT2	TF binding region
ENSG00000267748	TF binding region
ENSG00000099338	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1131182	0.88[CHB][hapmap]
rs11666449	0.89[TSI][hapmap]
rs11669230	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11672219	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11672531	0.90[GIH][hapmap];0.88[MEX][hapmap]
rs11673222	0.88[MEX][hapmap]
rs2304177	0.90[GIH][hapmap];0.88[MEX][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34989303	0.80[EUR][1000 genomes]
rs35308902	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3745951	0.87[MEX][hapmap]
rs3816044	0.90[GIH][hapmap];0.88[MEX][hapmap];0.96[TSI][hapmap]
rs3900981	0.82[GIH][hapmap];0.93[TSI][hapmap]
rs4386247	0.88[MEX][hapmap]
rs4802323	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4802326	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4802327	0.90[GIH][hapmap];0.88[MEX][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4804046	0.88[MEX][hapmap]
rs7256575	0.81[EUR][1000 genomes]
rs8106900	0.88[MEX][hapmap]
rs870218	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.96[TSI][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs931749	0.82[MEX][hapmap]

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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8104823	C19orf33	cis	normal skin	skin_eQTL
rs8104823	APOC4	cis	cerebellum	SCAN
rs8104823	C19orf33	cis	Heart Left Ventricle	GTEx
rs8104823	CYP2S1	cis	cerebellum	SCAN

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38756800-38779600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr19:38759600-38783200	Weak transcription	Fetal Brain Male	brain
3	chr19:38765800-38794800	Weak transcription	Small Intestine	intestine
4	chr19:38769200-38791200	Weak transcription	Fetal Kidney	kidney
5	chr19:38769400-38779200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr19:38769400-38795200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr19:38769800-38779000	Weak transcription	Brain Anterior Caudate	brain
8	chr19:38769800-38779000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr19:38769800-38779000	Weak transcription	HSMM	muscle
10	chr19:38769800-38779200	Weak transcription	Brain Angular Gyrus	brain
11	chr19:38769800-38780400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr19:38770000-38780600	Weak transcription	Brain Germinal Matrix	brain
13	chr19:38770800-38785800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:38771200-38779000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr19:38771400-38805800	Weak transcription	Right Atrium	heart
16	chr19:38772600-38782800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr19:38772800-38780800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr19:38772800-38780800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr19:38772800-38784200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr19:38773000-38779200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr19:38773000-38780400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr19:38773000-38785400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr19:38773000-38787800	Strong transcription	Fetal Intestine Small	intestine
24	chr19:38773200-38779400	Weak transcription	Primary T cells from cord blood	blood
25	chr19:38773200-38779400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr19:38773200-38785600	Strong transcription	Fetal Intestine Large	intestine
27	chr19:38773600-38780800	Weak transcription	Right Ventricle	heart
28	chr19:38773800-38784000	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr19:38774000-38783200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr19:38774000-38785000	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr19:38774000-38785600	Strong transcription	Duodenum Mucosa	Duodenum
32	chr19:38774200-38779000	Weak transcription	Fetal Thymus	thymus
33	chr19:38774400-38779200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr19:38774400-38779600	Strong transcription	NHEK	skin
35	chr19:38774400-38780200	Strong transcription	HMEC	breast
36	chr19:38774800-38784000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr19:38775000-38784200	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr19:38775200-38781000	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr19:38775200-38781200	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr19:38775800-38779000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:38775800-38791000	Weak transcription	Liver	Liver
42	chr19:38776000-38784000	Strong transcription	Primary B cells from peripheral blood	blood
43	chr19:38776000-38784200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr19:38776800-38779200	Weak transcription	Primary B cells from cord blood	blood
45	chr19:38776800-38780200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr19:38776800-38780800	Weak transcription	Osteobl	bone
47	chr19:38776800-38781000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr19:38777000-38779200	Weak transcription	Adipose Nuclei	Adipose
49	chr19:38777000-38780200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr19:38777000-38780600	Weak transcription	NHDF-Ad	bronchial

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