Variant report

Variant	rs8131307
Chromosome Location	chr21:40677529-40677530
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40671195..40673748-chr21:40675125..40678603,4	K562	blood:
2	chr21:40675820..40678831-chr21:40721085..40724268,3	K562	blood:
3	chr21:40675223..40677979-chr21:40720098..40723094,2	MCF-7	breast:
4	chr21:40671338..40675047-chr21:40676117..40679838,4	K562	blood:

Variant related genes	Relation type
ENSG00000205581	Chromatin interaction

Extended variants
information (count: 125 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs1011413	0.83[ASN][1000 genomes]
rs10154057	0.84[EUR][1000 genomes]
rs10154217	0.83[ASN][1000 genomes]
rs1041439	0.90[EUR][1000 genomes]
rs11702268	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11910971	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11911822	0.81[ASN][1000 genomes]
rs12626405	0.84[ASN][1000 genomes]
rs13050247	0.90[EUR][1000 genomes]
rs13050584	0.90[EUR][1000 genomes]
rs13051430	0.90[EUR][1000 genomes]
rs1541100	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1541101	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1882779	0.82[ASN][1000 genomes]
rs1888487	0.85[ASN][1000 genomes]
rs1984748	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2026266	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2070867	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2142117	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2150410	0.90[EUR][1000 genomes]
rs2150412	0.90[EUR][1000 genomes]
rs2183574	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2183575	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2183576	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2225425	0.89[EUR][1000 genomes]
rs2236437	0.85[EUR][1000 genomes]
rs2272576	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2272577	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2272578	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2297258	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2410104	0.88[EUR][1000 genomes]
rs2410121	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2776310	0.82[EUR][1000 genomes];0.85[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	0.88[ASN][1000 genomes]
rs3746886	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs383967	0.90[EUR][1000 genomes]
rs391062	0.90[EUR][1000 genomes]
rs413078	0.90[EUR][1000 genomes]
rs425988	0.90[EUR][1000 genomes]
rs444130	0.90[EUR][1000 genomes]
rs452776	0.90[EUR][1000 genomes]
rs4816619	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4816620	0.82[ASN][1000 genomes]
rs4816623	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4818004	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4818006	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4818007	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4818011	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4818012	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4818014	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4818015	0.86[ASN][1000 genomes]
rs55885019	0.84[EUR][1000 genomes]
rs6517520	0.90[EUR][1000 genomes]
rs6517524	0.90[EUR][1000 genomes]
rs6517525	0.90[EUR][1000 genomes]
rs6517529	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6517530	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6517531	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6517532	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6517534	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6517535	0.83[ASN][1000 genomes]
rs6517536	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6517537	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6517539	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6517540	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6517541	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6650847	0.90[EUR][1000 genomes]
rs66519408	0.90[EUR][1000 genomes]
rs66746936	0.90[EUR][1000 genomes]
rs67212994	0.90[EUR][1000 genomes]
rs67382266	0.84[EUR][1000 genomes]
rs67649754	0.90[EUR][1000 genomes]
rs68069991	0.84[EUR][1000 genomes]
rs68086041	0.84[EUR][1000 genomes]
rs68114370	0.90[EUR][1000 genomes]
rs718225	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs719230	0.86[ASN][1000 genomes]
rs726046	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7275773	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7276559	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7276698	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7276774	0.83[ASN][1000 genomes]
rs7278985	0.83[ASN][1000 genomes]
rs7280149	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7281853	0.82[ASN][1000 genomes]
rs7282029	0.90[EUR][1000 genomes]
rs7282724	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7282947	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7283439	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7283652	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8127391	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8127537	0.90[EUR][1000 genomes]
rs8128118	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8129847	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8130099	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8130774	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8131067	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8131091	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8131150	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8131263	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8132230	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs914157	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs971229	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs973521	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs997147	0.83[ASN][1000 genomes]
rs9974757	0.82[ASN][1000 genomes]
rs9975119	0.81[ASN][1000 genomes]
rs9975410	0.84[EUR][1000 genomes]
rs9975614	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9978591	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9978775	0.83[ASN][1000 genomes]
rs9978953	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9979547	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9981656	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9982111	0.84[ASN][1000 genomes]
rs9982122	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
rs8131307	BRWD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 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	chr21:40655000-40683000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr21:40655400-40683200	Strong transcription	Dnd41	blood
6	chr21:40656400-40683800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr21:40661800-40683400	Weak transcription	Stomach Mucosa	stomach
8	chr21:40663600-40683400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr21:40664000-40684200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr21:40665000-40683800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr21:40665200-40684400	Weak transcription	Colonic Mucosa	Colon
12	chr21:40666000-40682600	Weak transcription	NHLF	lung
13	chr21:40667000-40684000	Weak transcription	HSMMtube	muscle
14	chr21:40667000-40684200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr21:40669200-40684200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr21:40669400-40684000	Weak transcription	HUVEC	blood vessel
17	chr21:40669400-40684400	Weak transcription	Esophagus	oesophagus
18	chr21:40669800-40679800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr21:40669800-40683800	Weak transcription	Brain Substantia Nigra	brain
20	chr21:40670400-40680600	Weak transcription	Brain Hippocampus Middle	brain
21	chr21:40670400-40683800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr21:40670600-40683200	Weak transcription	NHDF-Ad	bronchial
23	chr21:40670800-40679600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr21:40670800-40679800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr21:40670800-40680000	Weak transcription	HepG2	liver
26	chr21:40671400-40683200	Weak transcription	HMEC	breast
27	chr21:40672200-40684000	Weak transcription	Aorta	Aorta
28	chr21:40672400-40683400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr21:40672400-40684000	Weak transcription	Small Intestine	intestine
30	chr21:40672600-40679600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr21:40672600-40682400	Weak transcription	Brain Anterior Caudate	brain
32	chr21:40672600-40682600	Weak transcription	Psoas Muscle	Psoas
33	chr21:40672600-40683800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr21:40672600-40684400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr21:40672800-40679800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr21:40672800-40683400	Weak transcription	Fetal Heart	heart
37	chr21:40672800-40683800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr21:40673200-40677600	Strong transcription	Liver	Liver
39	chr21:40673600-40678000	Strong transcription	Fetal Intestine Small	intestine
40	chr21:40673600-40679600	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr21:40673600-40679800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr21:40673600-40680800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr21:40673600-40682400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr21:40673600-40682600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr21:40673600-40682600	Weak transcription	Hela-S3	cervix
46	chr21:40673600-40683200	Weak transcription	Primary B cells from cord blood	blood
47	chr21:40673600-40683400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr21:40673600-40683600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr21:40673600-40683600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr21:40673600-40683600	Weak transcription	Rectal Smooth Muscle	rectum

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