Variant report

Variant	rs8129595
Chromosome Location	chr21:40690655-40690656
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:40688736-40691506	Raji	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr21:40683319..40690926-chr21:40755872..40762716,23	MCF-7	breast:
2	chr21:40689203..40691198-chr21:40730612..40733224,2	MCF-7	breast:
3	chr21:40690460..40692960-chr21:40749748..40751781,2	K562	blood:
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	chr21:40689989..40692160-chr21:41044598..41047094,2	MCF-7	breast:
8	chr21:40682856..40693378-chr21:40754350..40765471,56	MCF-7	breast:
9	chr21:40689727..40692043-chr21:41693980..41696191,2	MCF-7	breast:

No data

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

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1029004	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11088466	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11088470	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11701805	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11702505	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11910232	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11911087	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12483559	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12627205	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13047518	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13049907	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1474490	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1980407	0.81[EUR][1000 genomes]
rs2056844	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2070865	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2150411	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2150413	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2150414	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2297256	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2836926	0.80[EUR][1000 genomes]
rs2836930	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2836931	0.81[EUR][1000 genomes]
rs2836934	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2836940	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2836942	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2836943	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2836945	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2836948	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2836949	0.86[EUR][1000 genomes]
rs2836952	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2836956	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2836958	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2836959	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2836966	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2836980	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836983	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2836984	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2836985	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3171465	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34890172	0.87[EUR][1000 genomes]
rs35769610	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35994303	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4816617	0.81[EUR][1000 genomes]
rs4816618	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4818001	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4818018	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4818019	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59916147	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62223011	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62223039	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62223052	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7276046	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7278297	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7279497	0.81[EUR][1000 genomes]
rs7282582	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8127379	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8130162	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8130240	0.81[EUR][1000 genomes]
rs8130320	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8131132	0.81[EUR][1000 genomes]
rs8132143	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8132424	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8133928	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8134214	0.81[EUR][1000 genomes]
rs8134843	0.80[EUR][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

No data

Chromatin state (count:51 , 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	chr21:40686800-40691200	Weak transcription	Right Ventricle	heart
3	chr21:40686800-40691800	Weak transcription	Right Atrium	heart
4	chr21:40686800-40692200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr21:40687000-40690800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr21:40687000-40691000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr21:40687000-40691000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr21:40687000-40691000	Weak transcription	Adipose Nuclei	Adipose
9	chr21:40687000-40691000	Weak transcription	Colon Smooth Muscle	Colon
10	chr21:40687000-40691000	Weak transcription	Hela-S3	cervix
11	chr21:40687000-40691000	Weak transcription	NHLF	lung
12	chr21:40687000-40691200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr21:40687000-40691200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr21:40687000-40691200	Weak transcription	Pancreas	Pancrea
15	chr21:40687000-40691200	Weak transcription	NHDF-Ad	bronchial
16	chr21:40687000-40691200	Weak transcription	Osteobl	bone
17	chr21:40687000-40691800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr21:40687000-40691800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr21:40687000-40692000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr21:40687000-40693400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr21:40687200-40690800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr21:40687200-40690800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr21:40687200-40690800	Weak transcription	Fetal Muscle Leg	muscle
24	chr21:40687200-40691200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr21:40687200-40691800	Weak transcription	Fetal Stomach	stomach
26	chr21:40687600-40693000	Enhancers	Fetal Heart	heart
27	chr21:40688200-40691600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr21:40688800-40691200	Weak transcription	HSMM	muscle
29	chr21:40689200-40692000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr21:40689400-40691200	Weak transcription	A549	lung
31	chr21:40689600-40691200	Enhancers	Fetal Lung	lung
32	chr21:40689600-40692000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr21:40689600-40693800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr21:40689800-40690800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr21:40689800-40691000	Weak transcription	Liver	Liver
36	chr21:40689800-40691200	Weak transcription	NHEK	skin
37	chr21:40689800-40691800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr21:40689800-40692000	Weak transcription	HMEC	breast
39	chr21:40690000-40691200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr21:40690000-40691200	Enhancers	Placenta	Placenta
41	chr21:40690000-40691200	Weak transcription	Stomach Mucosa	stomach
42	chr21:40690200-40691000	Enhancers	Stomach Smooth Muscle	stomach
43	chr21:40690200-40691600	Enhancers	K562	blood
44	chr21:40690600-40690800	Enhancers	Fetal Muscle Trunk	muscle
45	chr21:40690600-40691000	Weak transcription	HepG2	liver
46	chr21:40690600-40691000	Weak transcription	HSMMtube	muscle
47	chr21:40690600-40691200	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr21:40690600-40692400	Enhancers	Psoas Muscle	Psoas
49	chr21:40690600-40692800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr21:40690600-40692800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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