Variant report

Variant	rs4818014
Chromosome Location	chr21:40673037-40673038
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	21:40671591-40673895..21:40757151-40764378	GM12878	blood:
2	21:40565363-40575691..21:40671591-40673895	GM12878	blood:
3	chr21:40666937..40669991-chr21:40672116..40674107,3	MCF-7	breast:
4	chr21:40671119..40673164-chr21:40679954..40681992,2	K562	blood:
5	chr21:40671338..40675047-chr21:40676117..40679838,4	K562	blood:
6	chr21:40641417..40644269-chr21:40672287..40675035,2	MCF-7	breast:
7	chr21:40672762..40675001-chr21:40682440..40684098,2	K562	blood:
8	21:40583765-40590917..21:40671591-40673895	GM12878	blood:
9	21:40549407-40551424..21:40671591-40673895	GM12878	blood:
10	21:40671591-40673895..21:40748850-40752541	Hela-S3	cervix:
11	chr21:40670757..40673579-chr21:40719041..40722481,3	K562	blood:
12	chr21:40671195..40673748-chr21:40675125..40678603,4	K562	blood:
13	chr21:40672849..40674870-chr21:40685560..40688525,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000205581	Chromatin interaction
ENSG00000255568	Chromatin interaction
ENSG00000185658	Chromatin interaction
ENSG00000232608	Chromatin interaction
ENSG00000238141	Chromatin interaction
ENSG00000183527	Chromatin interaction
ENSG00000182093	Chromatin interaction
ENSG00000227406	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1011413	0.83[ASN][1000 genomes]
rs10154217	0.83[ASN][1000 genomes]
rs11702268	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11910971	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11911822	0.81[ASN][1000 genomes]
rs12626405	0.84[ASN][1000 genomes]
rs1541100	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1541101	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1882779	0.82[ASN][1000 genomes]
rs1888487	0.85[ASN][1000 genomes]
rs1984748	0.94[ASN][1000 genomes]
rs2026266	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2070867	0.82[ASN][1000 genomes]
rs2142117	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2183574	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2183575	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2183576	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2272576	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2272577	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2272578	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2297258	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2410121	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2776310	0.82[ASN][1000 genomes]
rs2836969	0.83[ASN][1000 genomes]
rs2836971	0.83[ASN][1000 genomes]
rs2836975	0.84[ASN][1000 genomes]
rs2836982	0.83[ASN][1000 genomes]
rs35909862	0.81[ASN][1000 genomes]
rs3746885	0.85[ASN][1000 genomes]
rs3746886	0.85[ASN][1000 genomes]
rs4816619	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4816620	0.82[ASN][1000 genomes]
rs4816623	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4818004	0.89[ASN][1000 genomes]
rs4818006	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4818007	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4818011	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4818012	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4818015	0.86[ASN][1000 genomes]
rs6517529	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6517530	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6517531	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6517532	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6517534	0.89[ASN][1000 genomes]
rs6517535	0.83[ASN][1000 genomes]
rs6517536	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6517537	0.92[ASN][1000 genomes]
rs6517539	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6517540	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6517541	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs718225	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs719230	0.86[ASN][1000 genomes]
rs726046	0.82[ASN][1000 genomes]
rs7275773	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7276559	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7276698	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7276774	0.83[ASN][1000 genomes]
rs7278985	0.83[ASN][1000 genomes]
rs7280149	0.90[ASN][1000 genomes]
rs7281853	0.82[ASN][1000 genomes]
rs7282724	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7282947	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7283439	0.92[ASN][1000 genomes]
rs7283652	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8127391	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8128118	0.90[ASN][1000 genomes]
rs8129847	0.90[ASN][1000 genomes]
rs8130099	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8130774	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8131067	0.90[ASN][1000 genomes]
rs8131091	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8131150	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8131263	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8131307	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8132230	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs914157	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs971229	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs973521	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs997147	0.83[ASN][1000 genomes]
rs9974757	0.82[ASN][1000 genomes]
rs9975119	0.82[ASN][1000 genomes]
rs9978591	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9978775	0.83[ASN][1000 genomes]
rs9978953	0.92[ASN][1000 genomes]
rs9979547	0.90[ASN][1000 genomes]
rs9981656	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9982111	0.84[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	nsv1056683	chr21:40570023-40673210	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv459259	chr21:40571246-40701169	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv587480	chr21:40571246-40701169	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv3429298	chr21:40670131-40688774	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv913744	chr21:40670167-40757973	Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4818014	BRWD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40641400-40683800	Strong transcription	Placenta	Placenta
2	chr21:40643800-40684200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:40646600-40683400	Weak transcription	Fetal Brain Male	brain
4	chr21:40655000-40676800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr21:40655000-40683000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr21:40655400-40683200	Strong transcription	Dnd41	blood
7	chr21:40655800-40673800	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr21:40655800-40677400	Strong transcription	Duodenum Mucosa	Duodenum
9	chr21:40655800-40677400	Strong transcription	Fetal Thymus	thymus
10	chr21:40656200-40674200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr21:40656400-40675400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr21:40656400-40676600	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr21:40656400-40676800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr21:40656400-40683800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr21:40659000-40673600	Strong transcription	Hela-S3	cervix
16	chr21:40659200-40674600	Strong transcription	K562	blood
17	chr21:40659600-40676800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr21:40659600-40676800	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr21:40661800-40683400	Weak transcription	Stomach Mucosa	stomach
20	chr21:40662400-40675400	Strong transcription	Osteobl	bone
21	chr21:40662600-40673800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr21:40663600-40683400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr21:40663800-40676600	Strong transcription	Left Ventricle	heart
24	chr21:40664000-40684200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr21:40665000-40683800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr21:40665200-40684400	Weak transcription	Colonic Mucosa	Colon
27	chr21:40666000-40682600	Weak transcription	NHLF	lung
28	chr21:40667000-40684000	Weak transcription	HSMMtube	muscle
29	chr21:40667000-40684200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr21:40667200-40673800	Strong transcription	NHEK	skin
31	chr21:40668600-40673600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr21:40669200-40684200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr21:40669400-40676600	Strong transcription	Fetal Intestine Large	intestine
34	chr21:40669400-40684000	Weak transcription	HUVEC	blood vessel
35	chr21:40669400-40684400	Weak transcription	Esophagus	oesophagus
36	chr21:40669800-40673200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr21:40669800-40673400	Weak transcription	Brain Angular Gyrus	brain
38	chr21:40669800-40676400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr21:40669800-40679800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr21:40669800-40683800	Weak transcription	Brain Substantia Nigra	brain
41	chr21:40670400-40677200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr21:40670400-40677400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr21:40670400-40680600	Weak transcription	Brain Hippocampus Middle	brain
44	chr21:40670400-40683800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr21:40670600-40676600	Strong transcription	Thymus	Thymus
46	chr21:40670600-40683200	Weak transcription	NHDF-Ad	bronchial
47	chr21:40670800-40679600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr21:40670800-40679800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr21:40670800-40680000	Weak transcription	HepG2	liver
50	chr21:40671200-40673600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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