Variant report

Variant	rs4244456
Chromosome Location	chr8:19710468-19710469
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:19674074..19675847-chr8:19707697..19710631,2	K562	blood:
2	chr8:19709783..19712662-chr8:19713981..19716108,2	K562	blood:
3	chr8:19674069..19678740-chr8:19703160..19710631,7	K562	blood:

Variant related genes	Relation type
ENSG00000104613	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4520184	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs4599828	0.92[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.88[JPT][hapmap];0.82[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9987141	0.84[CHD][hapmap];0.80[JPT][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	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4244456	PHYHIP	cis	parietal	SCAN
rs4244456	NKX3-1	cis	cerebellum	SCAN

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19677000-19710600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:19677200-19710600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:19677400-19710800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:19684400-19711400	Strong transcription	A549	lung
5	chr8:19692600-19712000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:19697200-19711800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:19697400-19711400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:19700000-19714000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr8:19700200-19711400	Weak transcription	Fetal Brain Male	brain
10	chr8:19700800-19711200	Strong transcription	Fetal Stomach	stomach
11	chr8:19701800-19719400	Weak transcription	Fetal Heart	heart
12	chr8:19702000-19711400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr8:19702200-19711200	Weak transcription	HSMMtube	muscle
14	chr8:19702800-19713600	Weak transcription	Small Intestine	intestine
15	chr8:19703200-19713400	Weak transcription	Fetal Lung	lung
16	chr8:19703400-19711400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:19703400-19711800	Weak transcription	Brain Substantia Nigra	brain
18	chr8:19703400-19712200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr8:19703400-19713800	Weak transcription	Fetal Kidney	kidney
20	chr8:19703600-19711000	Weak transcription	Colon Smooth Muscle	Colon
21	chr8:19704600-19710600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:19704600-19711200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:19704800-19710600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:19704800-19710600	Strong transcription	Fetal Intestine Large	intestine
25	chr8:19705000-19711400	Weak transcription	K562	blood
26	chr8:19705000-19711600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr8:19705400-19710600	Strong transcription	Stomach Smooth Muscle	stomach
28	chr8:19705600-19711800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr8:19705600-19713200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr8:19705600-19713400	Weak transcription	Psoas Muscle	Psoas
31	chr8:19705600-19714200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr8:19705800-19711200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:19705800-19711200	Weak transcription	NH-A	brain
34	chr8:19706000-19710800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr8:19706000-19714800	Weak transcription	HMEC	breast
36	chr8:19706200-19713400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr8:19706600-19711400	Weak transcription	Brain Hippocampus Middle	brain
38	chr8:19706600-19711400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:19706600-19711600	Weak transcription	Fetal Brain Female	brain
40	chr8:19706600-19714400	Weak transcription	HUVEC	blood vessel
41	chr8:19706600-19715000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:19706800-19711200	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr8:19706800-19711800	Weak transcription	NHLF	lung
44	chr8:19706800-19713200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:19706800-19713400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr8:19706800-19715400	Weak transcription	HepG2	liver
47	chr8:19707000-19712200	Weak transcription	Dnd41	blood
48	chr8:19707000-19713400	Weak transcription	Primary B cells from cord blood	blood
49	chr8:19707000-19714200	Weak transcription	NHDF-Ad	bronchial
50	chr8:19707200-19711600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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