Variant report

Variant	rs8133928
Chromosome Location	chr21:40689963-40689964
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMARCB1	chr21:40689015-40690576	K562	blood:	n/a	n/a
2	ZNF384	chr21:40689398-40690094	K562	blood:	n/a	n/a
3	SIN3AK20	chr21:40688907-40690039	MCF-7	breast:	n/a	n/a
4	CTCF	chr21:40689303-40689990	K562	blood:	n/a	n/a
5	MAX	chr21:40689089-40690070	MCF-7	breast:	n/a	n/a
6	CUX1	chr21:40689100-40690060	K562	blood:	n/a	n/a
7	POLR2A	chr21:40688736-40691506	Raji	blood:	n/a	n/a
8	ZNF143	chr21:40689264-40690243	K562	blood:	n/a	n/a
9	KAP1	chr21:40688969-40689994	HEK293	kidney:	n/a	n/a
10	EP300	chr21:40689186-40690223	K562	blood:	n/a	n/a
11	TEAD4	chr21:40688942-40690558	K562	blood:	n/a	n/a
12	TBL1XR1	chr21:40689292-40690409	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	21:40687235-40690033..21:40757151-40764378	K562	blood:
2	chr21:40683319..40690926-chr21:40755872..40762716,23	MCF-7	breast:
3	chr21:40689203..40691198-chr21:40730612..40733224,2	MCF-7	breast:
4	chr21:40681596..40696529-chr21:40715399..40724266,46	K562	blood:
5	chr21:40683271..40692626-chr21:40743960..40754349,22	MCF-7	breast:
6	chr21:40687654..40692063-chr21:40815994..40821163,6	MCF-7	breast:
7	chr21:40682856..40693378-chr21:40754350..40765471,56	MCF-7	breast:
8	chr21:40689727..40692043-chr21:41693980..41696191,2	MCF-7	breast:
9	chr21:40684332..40690368-chr21:40756970..40764337,16	K562	blood:

No data

Variant related genes	Relation type
BRWD1-IT2	TF binding region
BRWD1	TF binding region
ENSG00000205581	Chromatin interaction
ENSG00000227406	Chromatin interaction
ENSG00000182093	Chromatin interaction
ENSG00000157578	Chromatin interaction
ENSG00000185437	Chromatin interaction
ENSG00000238556	Chromatin interaction
ENSG00000252915	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1029004	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10854396	0.82[ASN][1000 genomes]
rs11088466	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11088470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11701805	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11702505	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11910232	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11911087	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12483559	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12627205	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13047518	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13049907	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1474490	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1888487	0.80[AFR][1000 genomes]
rs1980407	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2056844	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2070865	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2150411	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2150413	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2150414	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2297256	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2836926	0.81[EUR][1000 genomes]
rs2836930	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2836931	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2836934	0.83[EUR][1000 genomes]
rs2836940	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2836942	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2836943	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2836945	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2836948	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2836949	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2836952	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2836956	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2836958	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2836959	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2836966	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2836980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2836983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2836984	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2836985	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3171465	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34705151	0.80[EUR][1000 genomes]
rs34890172	0.86[EUR][1000 genomes]
rs35769610	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35994303	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4816617	0.81[EUR][1000 genomes]
rs4816618	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4818001	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4818018	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4818019	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59916147	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62223011	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62223039	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62223052	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7276046	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7278297	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7279497	0.81[EUR][1000 genomes]
rs7282582	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8127379	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8127986	0.82[AFR][1000 genomes]
rs8129595	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8130162	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8130240	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8130320	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8131132	0.81[EUR][1000 genomes]
rs8132143	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8132424	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8134214	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8134843	0.81[EUR][1000 genomes]
rs997147	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	nsv1059420	chr21:40684295-40745952	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
5	nsv587482	chr21:40684427-40706594	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv587483	chr21:40686327-40718161	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8133928	BRWD1	Cis_1M	lymphoblastoid	RTeQTL
rs8133928	PSMG1	cis	Artery Tibial	GTEx
rs8133928	HMGN1	Cis_1M	lymphoblastoid	RTeQTL
rs8133928	HMGN1	cis	multi-tissue	Pritchard

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40686600-40691400	Enhancers	Primary B cells from peripheral blood	blood
2	chr21:40686800-40690600	Weak transcription	Psoas Muscle	Psoas
3	chr21:40686800-40691200	Weak transcription	Right Ventricle	heart
4	chr21:40686800-40691800	Weak transcription	Right Atrium	heart
5	chr21:40686800-40692200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr21:40687000-40690400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:40687000-40690600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr21:40687000-40690600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr21:40687000-40690800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr21:40687000-40691000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr21:40687000-40691000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr21:40687000-40691000	Weak transcription	Adipose Nuclei	Adipose
13	chr21:40687000-40691000	Weak transcription	Colon Smooth Muscle	Colon
14	chr21:40687000-40691000	Weak transcription	Hela-S3	cervix
15	chr21:40687000-40691000	Weak transcription	NHLF	lung
16	chr21:40687000-40691200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr21:40687000-40691200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr21:40687000-40691200	Weak transcription	Pancreas	Pancrea
19	chr21:40687000-40691200	Weak transcription	NHDF-Ad	bronchial
20	chr21:40687000-40691200	Weak transcription	Osteobl	bone
21	chr21:40687000-40691800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr21:40687000-40691800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr21:40687000-40692000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr21:40687000-40693400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr21:40687200-40690200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr21:40687200-40690200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr21:40687200-40690800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr21:40687200-40690800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr21:40687200-40690800	Weak transcription	Fetal Muscle Leg	muscle
30	chr21:40687200-40691200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr21:40687200-40691800	Weak transcription	Fetal Stomach	stomach
32	chr21:40687400-40690600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr21:40687600-40693000	Enhancers	Fetal Heart	heart
34	chr21:40688200-40691600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr21:40688600-40690400	Weak transcription	HSMMtube	muscle
36	chr21:40688800-40691200	Weak transcription	HSMM	muscle
37	chr21:40689000-40690000	Enhancers	Fetal Intestine Large	intestine
38	chr21:40689000-40690000	Enhancers	Fetal Intestine Small	intestine
39	chr21:40689000-40690000	Enhancers	Stomach Mucosa	stomach
40	chr21:40689000-40690600	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr21:40689000-40690600	Enhancers	HepG2	liver
42	chr21:40689200-40690000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr21:40689200-40690200	Flanking Active TSS	K562	blood
44	chr21:40689200-40690200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr21:40689200-40690400	Enhancers	Duodenum Mucosa	Duodenum
46	chr21:40689200-40692000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr21:40689400-40691200	Weak transcription	A549	lung
48	chr21:40689600-40690200	Enhancers	GM12878-XiMat	blood
49	chr21:40689600-40690400	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr21:40689600-40690400	Enhancers	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links