Variant report

Variant	rs2290471
Chromosome Location	chr8:98943545-98943546
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10087445	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1869612	0.85[CEU][hapmap]
rs2290472	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28524918	0.91[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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1028055	chr8:98780445-98977746	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv891214	chr8:98849303-98990399	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv891215	chr8:98910287-98980663	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2290471	KCNS2	cis	cerebellum	SCAN

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98929200-98944800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:98930800-98950000	Weak transcription	Right Ventricle	heart
3	chr8:98931200-98944200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:98935200-98944400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr8:98938200-98944400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:98938200-98956200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr8:98938200-98969200	Weak transcription	Colonic Mucosa	Colon
8	chr8:98938400-98943600	Weak transcription	Fetal Kidney	kidney
9	chr8:98938600-98944400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:98938800-98944400	Weak transcription	Left Ventricle	heart
11	chr8:98939000-98944400	Weak transcription	Right Atrium	heart
12	chr8:98939000-98944400	Weak transcription	Stomach Mucosa	stomach
13	chr8:98939200-98943600	Weak transcription	Fetal Intestine Large	intestine
14	chr8:98940000-98943600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:98940200-98947400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr8:98940800-98944600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:98941000-98968000	Weak transcription	Esophagus	oesophagus
18	chr8:98941600-98944000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:98941600-98944400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:98941800-98944400	Weak transcription	Fetal Lung	lung
21	chr8:98942000-98944200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr8:98942000-98944200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:98942000-98944200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr8:98942000-98944200	Weak transcription	NH-A	brain
25	chr8:98942000-98944400	Weak transcription	HSMMtube	muscle
26	chr8:98942200-98944000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr8:98942200-98944400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:98942200-98944400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr8:98942200-98944600	Weak transcription	HSMM	muscle
30	chr8:98942200-98946200	Enhancers	Liver	Liver
31	chr8:98942200-98949200	Weak transcription	Colon Smooth Muscle	Colon
32	chr8:98942400-98944000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:98942400-98944000	Weak transcription	Brain Anterior Caudate	brain
34	chr8:98942400-98944000	Weak transcription	Osteobl	bone
35	chr8:98942400-98944200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:98942400-98944200	Weak transcription	Adipose Nuclei	Adipose
37	chr8:98942400-98944400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:98942400-98944400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:98942400-98944400	Weak transcription	Spleen	Spleen
40	chr8:98942400-98944600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr8:98942400-98945400	Weak transcription	A549	lung
42	chr8:98942400-98956200	Weak transcription	NHLF	lung
43	chr8:98942600-98943600	Weak transcription	Brain Substantia Nigra	brain
44	chr8:98942600-98943800	Weak transcription	NHEK	skin
45	chr8:98942600-98944200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:98942600-98944200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:98942600-98944400	Weak transcription	Brain Angular Gyrus	brain
48	chr8:98942600-98944600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:98942600-98945400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:98942800-98944400	Weak transcription	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links