Variant report

Variant	rs17452694
Chromosome Location	chr8:118849146-118849147
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	8:118847934-118851389..8:119208477-119211356	H1-hESC	embryonic stem cell:	embryo

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11990095	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs13264956	0.90[EUR][1000 genomes]
rs13271710	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13271840	0.91[ASN][1000 genomes]
rs17430259	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4270997	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4355803	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4876757	1.00[CEU][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9642837	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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
5	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118805600-118849800	Strong transcription	Liver	Liver
2	chr8:118808600-118849400	Weak transcription	Stomach Mucosa	stomach
3	chr8:118817200-118852400	Weak transcription	Psoas Muscle	Psoas
4	chr8:118817200-118852400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr8:118819600-118851000	Weak transcription	Fetal Thymus	thymus
6	chr8:118825000-118850000	Weak transcription	Fetal Brain Female	brain
7	chr8:118825200-118859600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:118825200-118859800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:118825400-118849200	Weak transcription	Brain Hippocampus Middle	brain
10	chr8:118825400-118849600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:118825400-118852400	Weak transcription	Right Ventricle	heart
12	chr8:118825400-118853200	Weak transcription	Brain Anterior Caudate	brain
13	chr8:118825400-118859000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:118825600-118849600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:118825600-118849800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:118825600-118857200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr8:118825600-118860000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr8:118825800-118850400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr8:118827200-118855000	Weak transcription	Right Atrium	heart
20	chr8:118828600-118857000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:118829800-118855000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr8:118829800-118859800	Weak transcription	Esophagus	oesophagus
23	chr8:118832200-118854800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr8:118832400-118854000	Weak transcription	Gastric	stomach
25	chr8:118832400-118855000	Weak transcription	Colon Smooth Muscle	Colon
26	chr8:118832600-118854400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:118832600-118855000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr8:118832600-118859800	Weak transcription	Spleen	Spleen
29	chr8:118833000-118855000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr8:118833200-118854600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr8:118834000-118851600	Weak transcription	Fetal Brain Male	brain
32	chr8:118834800-118851800	Weak transcription	Placenta	Placenta
33	chr8:118835000-118859600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:118835000-118859600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr8:118837800-118849600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:118841200-118855000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr8:118841400-118854600	Weak transcription	Thymus	Thymus
38	chr8:118841600-118857200	Weak transcription	Fetal Intestine Large	intestine
39	chr8:118842800-118851000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr8:118843000-118850000	Genic enhancers	Osteobl	bone
41	chr8:118844200-118857200	Weak transcription	Fetal Intestine Small	intestine
42	chr8:118844600-118849200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:118845400-118849200	Strong transcription	NHEK	skin
44	chr8:118845400-118859600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr8:118845600-118849800	Weak transcription	Dnd41	blood
46	chr8:118846000-118853000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr8:118846200-118849600	Strong transcription	Duodenum Mucosa	Duodenum
48	chr8:118846400-118851200	Weak transcription	Fetal Heart	heart
49	chr8:118846600-118861800	Weak transcription	HUVEC	blood vessel
50	chr8:118846800-118855000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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