Variant report

Variant	rs17439576
Chromosome Location	chr8:118823167-118823168
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10098896	0.83[JPT][hapmap]
rs10098992	0.92[JPT][hapmap]
rs10102974	0.85[JPT][hapmap]
rs10103242	0.83[JPT][hapmap]
rs10111990	0.83[JPT][hapmap]
rs12675718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17429964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17450494	0.85[JPT][hapmap]
rs17479145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067866	0.85[JPT][hapmap]
rs58783789	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7835395	0.83[JPT][hapmap]
rs9656922	0.83[JPT][hapmap]
rs9792392	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831438	chr8:118679896-118823600	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv831439	chr8:118747352-118899118	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118801000-118843600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:118804200-118836000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:118804200-118838000	Strong transcription	HSMM	muscle
4	chr8:118805400-118826000	Strong transcription	NHLF	lung
5	chr8:118805400-118836800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:118805600-118849800	Strong transcription	Liver	Liver
7	chr8:118806000-118823200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:118806600-118824800	Weak transcription	Right Ventricle	heart
9	chr8:118808400-118827000	Weak transcription	Hela-S3	cervix
10	chr8:118808600-118849400	Weak transcription	Stomach Mucosa	stomach
11	chr8:118810000-118843800	Weak transcription	Fetal Heart	heart
12	chr8:118810200-118824600	Weak transcription	Brain Anterior Caudate	brain
13	chr8:118814000-118842200	Weak transcription	Primary B cells from cord blood	blood
14	chr8:118815400-118823200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:118815400-118834800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:118815600-118823600	Strong transcription	HUVEC	blood vessel
17	chr8:118816800-118836800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:118817000-118824600	Weak transcription	Fetal Brain Female	brain
19	chr8:118817000-118828600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:118817000-118833600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr8:118817200-118824800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr8:118817200-118824800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr8:118817200-118824800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:118817200-118828200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr8:118817200-118834600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:118817200-118852400	Weak transcription	Psoas Muscle	Psoas
27	chr8:118817200-118852400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr8:118817400-118824400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr8:118817400-118824600	Weak transcription	Small Intestine	intestine
30	chr8:118817400-118824800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:118817400-118829000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr8:118817400-118835800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr8:118818000-118825800	Strong transcription	Fetal Muscle Leg	muscle
34	chr8:118818400-118824600	Weak transcription	Brain Hippocampus Middle	brain
35	chr8:118818600-118825000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr8:118818600-118831600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr8:118818800-118825000	Weak transcription	Spleen	Spleen
38	chr8:118819000-118824400	Weak transcription	Left Ventricle	heart
39	chr8:118819000-118824800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr8:118819000-118830600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr8:118819000-118831800	Weak transcription	Dnd41	blood
42	chr8:118819000-118842000	Weak transcription	Fetal Kidney	kidney
43	chr8:118819200-118824600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr8:118819400-118824200	Weak transcription	Brain Germinal Matrix	brain
45	chr8:118819400-118825000	Weak transcription	Colon Smooth Muscle	Colon
46	chr8:118819400-118829000	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr8:118819600-118823200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr8:118819600-118824200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr8:118819600-118824200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:118819600-118824400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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