Variant report

Variant	rs10502591
Chromosome Location	chr18:29947917-29947918
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	chr18:29942791..29945437-chr18:29947108..29948708,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10502594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10502596	0.87[CEU][hapmap]
rs10502600	0.87[CEU][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.88[EUR][1000 genomes]
rs10853420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs11081757	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11504783	0.83[EUR][1000 genomes]
rs11504784	0.94[EUR][1000 genomes]
rs11872355	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes]
rs11872811	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs11873325	0.87[CEU][hapmap];0.80[GIH][hapmap]
rs11874036	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs11876823	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs13380968	0.86[CEU][hapmap]
rs13381088	0.87[CEU][hapmap];0.81[GIH][hapmap];0.85[TSI][hapmap]
rs13381184	0.87[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes]
rs16963285	0.86[MEX][hapmap]
rs16963314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16963334	0.87[CEU][hapmap];0.81[GIH][hapmap];0.85[TSI][hapmap]
rs16963351	0.98[EUR][1000 genomes]
rs16963353	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16963360	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16963365	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16963373	0.92[EUR][1000 genomes]
rs16963382	0.87[CEU][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.88[EUR][1000 genomes]
rs17736440	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17736489	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]
rs1841119	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs3073261	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3786308	0.87[CEU][hapmap];0.81[GIH][hapmap];0.85[TSI][hapmap]
rs3786310	0.87[CEU][hapmap];0.81[GIH][hapmap];0.85[TSI][hapmap]
rs3826611	0.87[CEU][hapmap];0.81[GIH][hapmap];0.85[TSI][hapmap]
rs4644922	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55730180	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55861080	0.84[ASN][1000 genomes]
rs55976613	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs57230958	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs57546420	0.84[ASN][1000 genomes]
rs58220828	0.98[EUR][1000 genomes]
rs58435646	0.84[ASN][1000 genomes]
rs58863502	0.84[ASN][1000 genomes]
rs59340191	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs59452754	0.84[ASN][1000 genomes]
rs59630704	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60154857	0.84[ASN][1000 genomes]
rs60214917	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60949633	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs619154	0.82[CHB][hapmap]
rs73954805	0.96[EUR][1000 genomes]
rs73954806	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73954807	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73956875	0.84[ASN][1000 genomes]
rs73956877	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73956878	0.84[ASN][1000 genomes]
rs73956881	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73956882	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73956890	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73956898	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73958413	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73958418	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73958422	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29926800-29951000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr18:29930200-29953600	Weak transcription	Fetal Muscle Leg	muscle
3	chr18:29931200-29948000	Weak transcription	Brain Angular Gyrus	brain
4	chr18:29932800-29954000	Weak transcription	Ovary	ovary
5	chr18:29933000-29948000	Weak transcription	Brain Hippocampus Middle	brain
6	chr18:29937600-29952600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:29938200-29948000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr18:29939000-29948000	Weak transcription	Right Atrium	heart
9	chr18:29939000-29951000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr18:29939000-29952800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr18:29942800-29948000	Weak transcription	NHEK	skin
12	chr18:29942800-29948200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr18:29945400-29948400	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr18:29945400-29948800	Enhancers	Fetal Intestine Small	intestine
15	chr18:29945400-29948800	Enhancers	Stomach Mucosa	stomach
16	chr18:29946000-29948200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr18:29946000-29948800	Enhancers	HMEC	breast
18	chr18:29946000-29949000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr18:29946000-29949200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr18:29946200-29951000	Weak transcription	Lung	lung
21	chr18:29946200-29958200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr18:29946800-29951000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr18:29946800-29953600	Weak transcription	Colon Smooth Muscle	Colon
24	chr18:29946800-29959000	Weak transcription	Fetal Lung	lung
25	chr18:29947000-29948000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr18:29947000-29948000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr18:29947000-29948000	Weak transcription	Fetal Intestine Large	intestine
28	chr18:29947000-29951400	Weak transcription	Adipose Nuclei	Adipose
29	chr18:29947000-29951400	Weak transcription	HSMM	muscle
30	chr18:29947000-29952400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr18:29947000-29953800	Weak transcription	Fetal Kidney	kidney
32	chr18:29947200-29957200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr18:29947400-29948000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr18:29947400-29951200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr18:29947600-29948000	Weak transcription	Fetal Heart	heart
36	chr18:29947600-29948200	Enhancers	Esophagus	oesophagus
37	chr18:29947600-29948200	Enhancers	Gastric	stomach
38	chr18:29947600-29948400	Enhancers	Placenta	Placenta
39	chr18:29947600-29948400	Enhancers	Left Ventricle	heart
40	chr18:29947600-29948400	Enhancers	Pancreas	Pancrea
41	chr18:29947600-29948400	Enhancers	Small Intestine	intestine
42	chr18:29947600-29951800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr18:29947800-29948200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr18:29947800-29948200	Enhancers	Aorta	Aorta
45	chr18:29947800-29948200	Flanking Active TSS	Liver	Liver
46	chr18:29947800-29948200	Enhancers	Right Ventricle	heart
47	chr18:29947800-29948400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr18:29947800-29948600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr18:29947800-29948800	Enhancers	Fetal Brain Male	brain
50	chr18:29947800-29949200	Enhancers	Brain Substantia Nigra	brain

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