Variant report

Variant	rs145239043
Chromosome Location	chr21:40683688-40683689
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr21:40683563-40683689	K562	blood:	n/a	n/a
2	SREBP2	chr21:40683625-40684860	GM12878	blood:	n/a	n/a
3	POLR2A	chr21:40682578-40684658	K562	blood:	n/a	n/a
4	RFX5	chr21:40683572-40684862	SK-N-SH	brain:	n/a	chr21:40684392-40684401

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40683319..40690926-chr21:40755872..40762716,23	MCF-7	breast:
2	chr21:40672762..40675001-chr21:40682440..40684098,2	K562	blood:
3	chr21:40682124..40685118-chr21:40763752..40765296,2	K562	blood:
4	chr21:40681596..40696529-chr21:40715399..40724266,46	K562	blood:
5	chr21:40645055..40648656-chr21:40680491..40684092,3	K562	blood:
6	chr21:40681416..40687854-chr21:40744378..40751195,8	K562	blood:
7	chr1:204379398..204382038-chr21:40683560..40686325,2	MCF-7	breast:
8	chr21:40554270..40557456-chr21:40682408..40685088,3	K562	blood:
9	chr21:40683271..40692626-chr21:40743960..40754349,22	MCF-7	breast:
10	chr21:40683646..40687466-chr21:40813293..40816602,5	MCF-7	breast:
11	chr21:40550424..40553042-chr21:40683249..40686279,3	K562	blood:
12	chr21:40682856..40693378-chr21:40754350..40765471,56	MCF-7	breast:
13	chr21:40683489..40689074-chr21:40750757..40754639,9	MCF-7	breast:
14	chr21:40683507..40684404-chr21:40721331..40722058,2	MCF-7	breast:
15	chr21:40591760..40593585-chr21:40682186..40684474,2	K562	blood:
16	chr21:40668014..40669940-chr21:40681557..40684495,2	K562	blood:
17	chr21:40553454..40557456-chr21:40682892..40687176,12	K562	blood:

No data

Variant related genes	Relation type
BRWD1-AS1	TF binding region
ENSG00000205581	Chromatin interaction
ENSG00000157578	Chromatin interaction
ENSG00000158615	Chromatin interaction
ENSG00000182093	Chromatin interaction
ENSG00000272991	Chromatin interaction
ENSG00000252915	Chromatin interaction
ENSG00000227406	Chromatin interaction
ENSG00000238556	Chromatin interaction
ENSG00000183527	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	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
5	esv3439649	chr21:40683507-40687455	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

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	chr21:40656400-40683800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr21:40664000-40684200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr21:40665000-40683800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr21:40665200-40684400	Weak transcription	Colonic Mucosa	Colon
7	chr21:40667000-40684000	Weak transcription	HSMMtube	muscle
8	chr21:40667000-40684200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr21:40669200-40684200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr21:40669400-40684000	Weak transcription	HUVEC	blood vessel
11	chr21:40669400-40684400	Weak transcription	Esophagus	oesophagus
12	chr21:40669800-40683800	Weak transcription	Brain Substantia Nigra	brain
13	chr21:40670400-40683800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr21:40672200-40684000	Weak transcription	Aorta	Aorta
15	chr21:40672400-40684000	Weak transcription	Small Intestine	intestine
16	chr21:40672600-40683800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr21:40672600-40684400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr21:40672800-40683800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr21:40673600-40683800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr21:40673600-40684000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr21:40673600-40684400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr21:40673600-40684600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr21:40673800-40683800	Weak transcription	Fetal Kidney	kidney
24	chr21:40675000-40683800	Weak transcription	A549	lung
25	chr21:40675800-40683800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr21:40675800-40684200	Weak transcription	Pancreas	Pancrea
27	chr21:40675800-40684400	Weak transcription	Gastric	stomach
28	chr21:40675800-40684400	Weak transcription	Spleen	Spleen
29	chr21:40676600-40683800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr21:40676600-40684000	Weak transcription	Brain Germinal Matrix	brain
31	chr21:40676800-40683800	Weak transcription	GM12878-XiMat	blood
32	chr21:40677200-40683800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr21:40678200-40683800	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr21:40679400-40683800	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr21:40679400-40683800	Strong transcription	Primary B cells from peripheral blood	blood
36	chr21:40679600-40683800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr21:40679800-40683800	Strong transcription	Fetal Lung	lung
38	chr21:40680200-40683800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr21:40680400-40684000	Weak transcription	Right Ventricle	heart
40	chr21:40680600-40683800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr21:40681400-40683800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr21:40681400-40684200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr21:40682000-40684000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr21:40682200-40683800	Strong transcription	Liver	Liver
45	chr21:40682200-40684000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr21:40682400-40684000	Genic enhancers	Primary T cells fromperipheralblood	blood
47	chr21:40682400-40684000	Strong transcription	HSMM	muscle
48	chr21:40682600-40683800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr21:40682600-40683800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
50	chr21:40682600-40683800	Strong transcription	Hela-S3	cervix

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