Variant report

Variant	rs17474393
Chromosome Location	chr8:118828752-118828753
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	8:118823602-118831545..8:119208477-119211356	H1-hESC	embryonic stem cell:	embryo

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17474441	1.00[AMR][1000 genomes]
rs17474448	1.00[AMR][1000 genomes]
rs17474727	1.00[YRI][hapmap]
rs17474741	1.00[AMR][1000 genomes]
rs17475218	1.00[YRI][hapmap]
rs17475395	1.00[YRI][hapmap]
rs17475450	1.00[AMR][1000 genomes]
rs17503440	1.00[AMR][1000 genomes]
rs17503488	1.00[AMR][1000 genomes]
rs17503593	1.00[AMR][1000 genomes]
rs17503621	1.00[AMR][1000 genomes]
rs17503628	1.00[AMR][1000 genomes]
rs17503747	1.00[YRI][hapmap]
rs17503997	1.00[YRI][hapmap]
rs17504046	1.00[YRI][hapmap]
rs17504246	1.00[YRI][hapmap]
rs7817133	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	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:109 , 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	chr8:118805400-118836800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:118805600-118849800	Strong transcription	Liver	Liver
6	chr8:118808600-118849400	Weak transcription	Stomach Mucosa	stomach
7	chr8:118810000-118843800	Weak transcription	Fetal Heart	heart
8	chr8:118814000-118842200	Weak transcription	Primary B cells from cord blood	blood
9	chr8:118815400-118834800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr8:118816800-118836800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:118817000-118833600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr8:118817200-118834600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:118817200-118852400	Weak transcription	Psoas Muscle	Psoas
14	chr8:118817200-118852400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr8:118817400-118829000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:118817400-118835800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:118818600-118831600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr8:118819000-118830600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr8:118819000-118831800	Weak transcription	Dnd41	blood
20	chr8:118819000-118842000	Weak transcription	Fetal Kidney	kidney
21	chr8:118819400-118829000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr8:118819600-118832200	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr8:118819600-118851000	Weak transcription	Fetal Thymus	thymus
24	chr8:118820800-118829200	Strong transcription	Fetal Stomach	stomach
25	chr8:118822400-118829200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:118822800-118835000	Strong transcription	Duodenum Mucosa	Duodenum
27	chr8:118822800-118835600	Strong transcription	Primary T cells from cord blood	blood
28	chr8:118823200-118834800	Strong transcription	Fetal Muscle Trunk	muscle
29	chr8:118823600-118831600	Weak transcription	HUVEC	blood vessel
30	chr8:118823800-118834000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:118824200-118835200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:118824600-118835400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:118825000-118844800	Weak transcription	Brain Germinal Matrix	brain
34	chr8:118825000-118850000	Weak transcription	Fetal Brain Female	brain
35	chr8:118825200-118832000	Weak transcription	Spleen	Spleen
36	chr8:118825200-118833800	Weak transcription	Fetal Brain Male	brain
37	chr8:118825200-118841000	Weak transcription	Thymus	Thymus
38	chr8:118825200-118848000	Weak transcription	Colonic Mucosa	Colon
39	chr8:118825200-118859600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:118825200-118859800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:118825400-118829000	Weak transcription	Esophagus	oesophagus
42	chr8:118825400-118829200	Weak transcription	Aorta	Aorta
43	chr8:118825400-118830200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr8:118825400-118831600	Weak transcription	Small Intestine	intestine
45	chr8:118825400-118831800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:118825400-118831800	Weak transcription	Lung	lung
47	chr8:118825400-118834600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:118825400-118849200	Weak transcription	Brain Hippocampus Middle	brain
49	chr8:118825400-118849600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:118825400-118852400	Weak transcription	Right Ventricle	heart

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