Variant report

Variant	rs8134214
Chromosome Location	chr21:40542367-40542368
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40539973..40543967-chr21:40547698..40550109,4	MCF-7	breast:
2	chr21:40534864..40537337-chr21:40540303..40542416,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1029004	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11088466	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11088470	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11700813	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11701805	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11910232	0.85[EUR][1000 genomes]
rs11911087	0.84[EUR][1000 genomes]
rs11911822	1.00[YRI][hapmap]
rs12483559	0.84[EUR][1000 genomes]
rs12627205	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13049907	0.86[EUR][1000 genomes]
rs1571709	0.90[YRI][hapmap]
rs1980407	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2037923	0.82[ASN][1000 genomes]
rs2056844	0.96[CEU][hapmap];0.80[CHB][hapmap];0.91[JPT][hapmap];0.85[EUR][1000 genomes]
rs2070865	0.92[CEU][hapmap];0.85[JPT][hapmap]
rs2150411	0.96[CEU][hapmap];0.80[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2150413	1.00[CEU][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2150414	1.00[CEU][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2183573	0.89[YRI][hapmap]
rs2297256	0.96[CEU][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2836922	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2836926	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836934	1.00[CEU][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2836940	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2836942	0.96[CEU][hapmap];0.80[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2836943	1.00[CEU][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2836945	1.00[CEU][hapmap];0.80[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2836948	0.96[CEU][hapmap];0.80[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2836949	0.96[CEU][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes]
rs2836952	1.00[CEU][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2836956	0.96[CEU][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2836958	0.96[CEU][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2836959	0.96[CEU][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2836966	1.00[CEU][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2836969	1.00[YRI][hapmap]
rs2836971	1.00[YRI][hapmap]
rs2836975	1.00[YRI][hapmap]
rs2836980	0.92[CEU][hapmap];0.85[JPT][hapmap];0.89[YRI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2836983	0.93[CEU][hapmap];0.80[CHB][hapmap];0.82[JPT][hapmap];0.90[YRI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2836985	0.92[CEU][hapmap];0.85[JPT][hapmap]
rs3171465	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34705151	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35769610	0.85[EUR][1000 genomes]
rs371625	0.85[AFR][1000 genomes]
rs377098	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs414850	0.85[AFR][1000 genomes]
rs418298	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs418359	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs419469	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs429955	0.85[AFR][1000 genomes]
rs442972	0.85[AFR][1000 genomes]
rs452377	0.85[AFR][1000 genomes]
rs4816617	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4816618	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4818001	0.96[CEU][hapmap];0.80[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4818015	1.00[YRI][hapmap]
rs4818018	0.81[AMR][1000 genomes]
rs4818019	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs59916147	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62223011	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62223039	0.83[EUR][1000 genomes]
rs62223052	0.81[AMR][1000 genomes]
rs6517518	0.87[CHB][hapmap];0.83[ASN][1000 genomes]
rs6517522	0.90[YRI][hapmap]
rs7276046	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7276774	0.96[YRI][hapmap]
rs7278297	0.96[CEU][hapmap];0.80[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7279497	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7282582	0.88[CEU][hapmap];0.85[JPT][hapmap]
rs7282604	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs8127379	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8128191	0.90[YRI][hapmap]
rs8129595	0.81[EUR][1000 genomes]
rs8130162	0.87[EUR][1000 genomes]
rs8130240	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8130320	1.00[CEU][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8131132	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8132143	0.96[CEU][hapmap];0.80[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8132295	0.90[YRI][hapmap]
rs8132333	0.90[YRI][hapmap]
rs8132424	0.96[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8133928	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8134843	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061831	chr21:40376316-40583555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv544443	chr21:40376316-40583555	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs8134214	BRWD1	cis	Frontal Cortex	GTEx
rs8134214	BRWD1	cis	Temporal Cortex	GTEx
rs8134214	HMGN1	Cis_1M	lymphoblastoid	RTeQTL
rs8134214	PSMG1	cis	Artery Tibial	GTEx
rs8134214	BRWD1	cis	Brain Pons	GTEx
rs8134214	BRWD1	cis	Cerebellum	GTEx
rs8134214	C21orf107	cis	multi-tissue	Pritchard
rs8134214	BRWD1	cis	Lymphoblastoid	GTEx
rs8134214	HMGN1	cis	multi-tissue	Pritchard
rs8134214	BRWD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40533600-40545400	Weak transcription	HUVEC	blood vessel
2	chr21:40537200-40542800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr21:40537200-40543000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr21:40537200-40543000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr21:40537200-40543000	Weak transcription	Lung	lung
6	chr21:40537200-40543000	Weak transcription	Pancreas	Pancrea
7	chr21:40537400-40542400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr21:40537400-40543000	Weak transcription	Aorta	Aorta
9	chr21:40537400-40543000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr21:40537400-40543200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr21:40537600-40553800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr21:40537800-40543000	Weak transcription	HepG2	liver
13	chr21:40538000-40543000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr21:40538200-40543200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr21:40538400-40542800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr21:40538400-40543000	Weak transcription	Fetal Intestine Small	intestine
17	chr21:40538400-40544800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr21:40538600-40543000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr21:40538600-40543000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr21:40538800-40542800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr21:40538800-40542800	Weak transcription	K562	blood
22	chr21:40538800-40543000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr21:40538800-40545200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr21:40538800-40550400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr21:40539000-40542600	Weak transcription	Fetal Intestine Large	intestine
26	chr21:40539000-40543000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr21:40539000-40543000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr21:40539000-40550800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr21:40539200-40542800	Weak transcription	Fetal Kidney	kidney
30	chr21:40539200-40543000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr21:40539200-40543400	Weak transcription	Brain Anterior Caudate	brain
32	chr21:40539400-40543000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr21:40539400-40544800	Weak transcription	NHDF-Ad	bronchial
34	chr21:40539400-40545200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr21:40539600-40554000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr21:40539800-40554000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr21:40540000-40543000	Weak transcription	Ovary	ovary
38	chr21:40540000-40543200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr21:40540200-40554200	Weak transcription	Psoas Muscle	Psoas
40	chr21:40540800-40543000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr21:40540800-40543000	Weak transcription	Brain Hippocampus Middle	brain
42	chr21:40540800-40543000	Weak transcription	Fetal Thymus	thymus
43	chr21:40540800-40543000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr21:40540800-40543000	Weak transcription	Spleen	Spleen
45	chr21:40541000-40543000	Weak transcription	Gastric	stomach
46	chr21:40541000-40543000	Weak transcription	Right Ventricle	heart
47	chr21:40541000-40543000	Weak transcription	Osteobl	bone
48	chr21:40541000-40543200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr21:40541000-40543200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr21:40541000-40543200	Weak transcription	Rectal Mucosa Donor 31	rectum

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