Variant report

Variant	rs8112528
Chromosome Location	chr19:39977173-39977174
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	POLR2A	chr19:39976804-39977342	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:39947157-39987373	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr19:39976831-39977255	K562	blood:	n/a	n/a
4	POLR2A	chr19:39976334-39977417	K562	blood:	n/a	n/a
5	POLR2A	chr19:39976269-39977189	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr19:39976073-39977368	K562	blood:	n/a	n/a
7	POLR2A	chr19:39976297-39977284	GM12892	blood:	n/a	n/a
8	POLR2A	chr19:39976802-39977318	GM12892	blood:	n/a	n/a
9	POLR2A	chr19:39973155-39985792	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:39913480..39916274-chr19:39975273..39977291,2	MCF-7	breast:

Variant related genes	Relation type
TIMM50	TF binding region
ENSG00000090924	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17627	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911689	chr19:39903088-40021759	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv911690	chr19:39903088-40046863	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv523856	chr19:39913558-39997472	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8112528	CD177	cis	parietal	SCAN
rs8112528	B3GNT8	cis	parietal	SCAN
rs8112528	EXOC3L2	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39972200-39986400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:39972800-39977400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:39972800-39978800	Weak transcription	NHDF-Ad	bronchial
4	chr19:39972800-39980200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr19:39972800-39982200	Weak transcription	Fetal Kidney	kidney
6	chr19:39972800-39983200	Strong transcription	Fetal Brain Female	brain
7	chr19:39972800-39983600	Strong transcription	Fetal Stomach	stomach
8	chr19:39972800-39984200	Weak transcription	Stomach Mucosa	stomach
9	chr19:39972800-39988600	Weak transcription	Right Atrium	heart
10	chr19:39973000-39981600	Strong transcription	NHEK	skin
11	chr19:39973000-39982000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr19:39973000-39983000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr19:39973000-39983000	Strong transcription	Fetal Intestine Small	intestine
14	chr19:39973000-39983800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr19:39973200-39983800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr19:39973200-39983800	Strong transcription	Fetal Muscle Leg	muscle
17	chr19:39973400-39979600	Strong transcription	HSMM	muscle
18	chr19:39973400-39981400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr19:39973400-39981400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr19:39973400-39981400	Strong transcription	Fetal Intestine Large	intestine
21	chr19:39973400-39982400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr19:39973400-39982800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr19:39973400-39983000	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr19:39973400-39983000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr19:39973400-39983000	Strong transcription	Thymus	Thymus
26	chr19:39973400-39983200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:39973400-39983200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr19:39973400-39983200	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr19:39973400-39983200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:39973400-39983200	Strong transcription	Primary T cells from cord blood	blood
31	chr19:39973400-39983200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr19:39973400-39983200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr19:39973400-39983400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr19:39973400-39983800	Strong transcription	Brain Germinal Matrix	brain
35	chr19:39973600-39980800	Strong transcription	K562	blood
36	chr19:39973600-39981200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr19:39973600-39981400	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr19:39973600-39981400	Strong transcription	Fetal Lung	lung
39	chr19:39973600-39981400	Strong transcription	Stomach Smooth Muscle	stomach
40	chr19:39973600-39982000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:39973600-39982800	Strong transcription	Adipose Nuclei	Adipose
42	chr19:39973600-39983000	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr19:39973600-39983000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr19:39973600-39983200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr19:39973600-39983200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr19:39973600-39983200	Strong transcription	Liver	Liver
47	chr19:39973600-39983200	Strong transcription	Fetal Muscle Trunk	muscle
48	chr19:39973600-39988400	Weak transcription	Fetal Brain Male	brain
49	chr19:39973800-39980000	Strong transcription	A549	lung
50	chr19:39973800-39981400	Strong transcription	Brain Angular Gyrus	brain

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