Variant report

Variant	rs16963270
Chromosome Location	chr18:29949519-29949520
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29948144..29949941-chr18:30049254..30052197,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141441	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10048362	0.89[ASN][1000 genomes]
rs1037753	0.88[ASN][1000 genomes]
rs10438935	0.84[EUR][1000 genomes]
rs10468833	0.84[EUR][1000 genomes]
rs10468904	0.84[EUR][1000 genomes]
rs10502596	0.89[ASN][1000 genomes]
rs10775451	0.84[EUR][1000 genomes]
rs10853421	0.84[EUR][1000 genomes]
rs11081761	0.89[EUR][1000 genomes]
rs11081763	0.84[EUR][1000 genomes]
rs11081764	0.84[EUR][1000 genomes]
rs11081765	0.82[EUR][1000 genomes]
rs11665147	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11665150	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11665190	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11873325	0.89[ASN][1000 genomes]
rs11874614	0.84[EUR][1000 genomes]
rs13380968	0.84[EUR][1000 genomes]
rs13381088	0.89[ASN][1000 genomes]
rs13381344	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1458858	0.84[EUR][1000 genomes]
rs1458861	0.82[AFR][1000 genomes]
rs16963287	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16963289	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16963326	0.80[ASN][1000 genomes]
rs16963334	0.88[ASN][1000 genomes]
rs16963381	0.81[EUR][1000 genomes]
rs17744051	0.85[EUR][1000 genomes]
rs17811666	0.82[EUR][1000 genomes]
rs1964517	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2034968	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052757	0.85[EUR][1000 genomes]
rs2055060	0.84[EUR][1000 genomes]
rs2421462	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28500590	0.88[ASN][1000 genomes]
rs3786308	0.89[ASN][1000 genomes]
rs3786310	0.89[ASN][1000 genomes]
rs3826611	0.89[ASN][1000 genomes]
rs41527551	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4561543	0.86[EUR][1000 genomes]
rs4597393	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56808255	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57978863	0.86[EUR][1000 genomes]
rs59211646	0.88[ASN][1000 genomes]
rs60451418	0.87[EUR][1000 genomes]
rs60928334	0.84[EUR][1000 genomes]
rs6506968	0.84[EUR][1000 genomes]
rs7226639	0.85[ASN][1000 genomes]
rs7227973	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7228553	0.84[EUR][1000 genomes]
rs7229026	0.84[EUR][1000 genomes]
rs7233422	0.87[EUR][1000 genomes]
rs7243086	0.84[EUR][1000 genomes]
rs7243481	0.84[EUR][1000 genomes]
rs7243539	0.82[EUR][1000 genomes]
rs7243964	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7245123	0.82[EUR][1000 genomes]
rs72933532	0.84[EUR][1000 genomes]
rs72933545	0.84[EUR][1000 genomes]
rs7359734	0.84[EUR][1000 genomes]
rs73958407	0.82[AFR][1000 genomes]
rs73958414	0.89[ASN][1000 genomes]
rs73958415	0.88[ASN][1000 genomes]
rs8083848	0.81[EUR][1000 genomes]
rs8087781	0.83[EUR][1000 genomes]
rs8091089	0.82[EUR][1000 genomes]
rs8093474	0.83[EUR][1000 genomes]
rs8093807	0.84[EUR][1000 genomes]
rs8094914	0.82[EUR][1000 genomes]
rs8096329	0.84[EUR][1000 genomes]
rs8097263	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs968099	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs968177	0.84[EUR][1000 genomes]
rs968178	0.84[EUR][1000 genomes]
rs982521	0.81[EUR][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:55 , 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	chr18:29932800-29954000	Weak transcription	Ovary	ovary
4	chr18:29937600-29952600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:29939000-29951000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr18:29939000-29952800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr18:29946200-29951000	Weak transcription	Lung	lung
8	chr18:29946200-29958200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr18:29946800-29951000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr18:29946800-29953600	Weak transcription	Colon Smooth Muscle	Colon
11	chr18:29946800-29959000	Weak transcription	Fetal Lung	lung
12	chr18:29947000-29951400	Weak transcription	Adipose Nuclei	Adipose
13	chr18:29947000-29951400	Weak transcription	HSMM	muscle
14	chr18:29947000-29952400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr18:29947000-29953800	Weak transcription	Fetal Kidney	kidney
16	chr18:29947200-29957200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr18:29947400-29951200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr18:29947600-29951800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr18:29947800-29951000	Weak transcription	Psoas Muscle	Psoas
20	chr18:29947800-29951200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr18:29948000-29950000	Enhancers	Fetal Heart	heart
22	chr18:29948200-29949800	Weak transcription	Esophagus	oesophagus
23	chr18:29948200-29951400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr18:29948200-29951600	Weak transcription	Right Ventricle	heart
25	chr18:29948200-29953400	Weak transcription	Gastric	stomach
26	chr18:29948200-29954000	Weak transcription	Aorta	Aorta
27	chr18:29948200-29954200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr18:29948400-29950000	Enhancers	Fetal Brain Female	brain
29	chr18:29948400-29951000	Weak transcription	Placenta	Placenta
30	chr18:29948400-29951000	Weak transcription	Left Ventricle	heart
31	chr18:29948400-29951000	Weak transcription	Pancreas	Pancrea
32	chr18:29948400-29951000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr18:29948400-29952400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr18:29948400-29952600	Weak transcription	Right Atrium	heart
35	chr18:29948400-29954200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr18:29948600-29951400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr18:29948600-29951600	Weak transcription	Fetal Intestine Large	intestine
38	chr18:29948600-29952000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr18:29948600-29952400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr18:29948600-29953600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr18:29948800-29950800	Weak transcription	Stomach Mucosa	stomach
42	chr18:29948800-29951400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr18:29948800-29951400	Weak transcription	Fetal Intestine Small	intestine
44	chr18:29948800-29951400	Weak transcription	HMEC	breast
45	chr18:29948800-29951400	Weak transcription	NHEK	skin
46	chr18:29948800-29951600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr18:29948800-29952200	Weak transcription	Brain Anterior Caudate	brain
48	chr18:29949000-29951800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr18:29949200-29950200	Enhancers	Fetal Brain Male	brain
50	chr18:29949200-29950800	Weak transcription	Hela-S3	cervix

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