Variant report

Variant	rs968099
Chromosome Location	chr18:29929220-29929221
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10048362	0.82[ASN][1000 genomes]
rs1037753	0.85[CHD][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs10502592	0.81[CEU][hapmap]
rs10502596	0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs10853421	0.88[TSI][hapmap]
rs11081761	0.83[LWK][hapmap];0.84[EUR][1000 genomes]
rs11663076	0.81[JPT][hapmap]
rs11665147	0.91[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11665150	0.91[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11665190	0.91[CEU][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11873319	0.83[ASN][1000 genomes]
rs11873325	0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs11876773	0.90[CEU][hapmap];0.86[GIH][hapmap]
rs13381088	0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs13381344	1.00[JPT][hapmap];0.83[TSI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1458861	0.81[JPT][hapmap]
rs16963233	0.83[ASN][1000 genomes]
rs16963270	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16963285	0.81[CEU][hapmap]
rs16963287	0.95[CHD][hapmap];0.88[JPT][hapmap]
rs16963289	0.91[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16963326	0.87[JPT][hapmap]
rs16963334	0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs1824304	0.90[CEU][hapmap]
rs1964517	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2034968	0.91[CEU][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2055060	0.88[TSI][hapmap]
rs2421462	0.88[JPT][hapmap]
rs28500590	0.81[ASN][1000 genomes]
rs3786308	0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs3786310	0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs3826611	0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs41527551	0.91[CEU][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56808255	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57978863	0.80[EUR][1000 genomes]
rs59211646	0.81[ASN][1000 genomes]
rs60451418	0.82[EUR][1000 genomes]
rs638868	0.80[ASN][1000 genomes]
rs6506968	0.88[TSI][hapmap]
rs686196	0.80[ASN][1000 genomes]
rs7226639	0.84[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs7227973	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7230250	0.90[CEU][hapmap]
rs7239218	0.80[ASN][1000 genomes]
rs7243964	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7359734	0.88[TSI][hapmap]
rs736218	0.90[CEU][hapmap]
rs73958414	0.82[ASN][1000 genomes]
rs73958415	0.81[ASN][1000 genomes]
rs753784	0.83[ASN][1000 genomes]
rs8085211	0.83[ASN][1000 genomes]
rs8097263	0.91[CEU][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833616	chr18:29792336-29964212	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29904400-29930000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr18:29910600-29929800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr18:29915600-29929600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr18:29920000-29930200	Weak transcription	Stomach Mucosa	stomach
5	chr18:29921600-29938200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:29922600-29929600	Weak transcription	Fetal Intestine Small	intestine
7	chr18:29922600-29929800	Weak transcription	Fetal Heart	heart
8	chr18:29924000-29929800	Weak transcription	Esophagus	oesophagus
9	chr18:29924000-29930800	Enhancers	Brain Anterior Caudate	brain
10	chr18:29924200-29929800	Weak transcription	Fetal Muscle Leg	muscle
11	chr18:29924200-29936800	Weak transcription	Pancreas	Pancrea
12	chr18:29924200-29937000	Weak transcription	Left Ventricle	heart
13	chr18:29924400-29929600	Weak transcription	Liver	Liver
14	chr18:29924400-29929800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr18:29925000-29930600	Enhancers	Brain Cingulate Gyrus	brain
16	chr18:29926800-29929600	Weak transcription	Fetal Stomach	stomach
17	chr18:29926800-29951000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr18:29927000-29929600	Weak transcription	Aorta	Aorta
19	chr18:29927000-29929800	Weak transcription	Ovary	ovary
20	chr18:29927000-29929800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr18:29927200-29929600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr18:29927200-29929600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr18:29927200-29929600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr18:29927200-29936800	Weak transcription	Psoas Muscle	Psoas
25	chr18:29927600-29929600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr18:29927600-29929600	Weak transcription	Adipose Nuclei	Adipose
27	chr18:29927600-29930200	Enhancers	Fetal Brain Male	brain
28	chr18:29927800-29929600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr18:29927800-29929600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr18:29927800-29938200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr18:29928000-29929600	Weak transcription	Fetal Intestine Large	intestine
32	chr18:29928000-29929600	Weak transcription	Fetal Lung	lung
33	chr18:29928200-29929800	Weak transcription	Brain Hippocampus Middle	brain
34	chr18:29928200-29932000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr18:29928400-29929400	Weak transcription	Brain Substantia Nigra	brain
36	chr18:29928600-29930000	Weak transcription	Right Atrium	heart
37	chr18:29928800-29931200	Enhancers	Brain Angular Gyrus	brain
38	chr18:29928800-29933000	Enhancers	Colon Smooth Muscle	Colon
39	chr18:29929000-29929400	Enhancers	NH-A	brain
40	chr18:29929000-29929600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr18:29929000-29929600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr18:29929000-29929600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr18:29929000-29929600	Enhancers	Placenta Amnion	Placenta Amnion
44	chr18:29929000-29929600	Enhancers	NHDF-Ad	bronchial
45	chr18:29929000-29929800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr18:29929000-29929800	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr18:29929000-29931200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr18:29929000-29931600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr18:29929000-29932400	Enhancers	Rectal Smooth Muscle	rectum
50	chr18:29929000-29933600	Enhancers	Fetal Kidney	kidney

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