Variant report

Variant	rs569662896
Chromosome Location	chr21:40784557-40784558
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:40784542-40784582	ProgFib	skin:	n/a	n/a
2	POLR2A	chr21:40784434-40784582	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40762468..40764445-chr21:40783033..40785602,2	K562	blood:
2	chr21:40783103..40784656-chr21:40785669..40787209,3	MCF-7	breast:
3	chr21:40759292..40761069-chr21:40781933..40784921,2	MCF-7	breast:
4	chr21:40784167..40788125-chr21:40789270..40793629,5	K562	blood:
5	chr21:40784172..40786571-chr21:40796585..40798717,2	K562	blood:
6	chr21:40782804..40784995-chr21:40816330..40818172,2	K562	blood:
7	chr21:40784043..40786943-chr21:40818304..40821060,2	K562	blood:

No data

Variant related genes	Relation type
LCA5L	TF binding region
ENSG00000182093	Chromatin interaction
ENSG00000185437	Chromatin interaction
ENSG00000157578	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1063521	chr21:40747754-40790197	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv3355532	chr21:40783721-40786949	Strong transcription Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40764600-40800600	Weak transcription	Psoas Muscle	Psoas
2	chr21:40768200-40784600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr21:40770200-40785800	Weak transcription	Esophagus	oesophagus
4	chr21:40772600-40786400	Weak transcription	Fetal Heart	heart
5	chr21:40776600-40786200	Weak transcription	K562	blood
6	chr21:40778200-40816600	Weak transcription	Pancreas	Pancrea
7	chr21:40778400-40787200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr21:40778400-40787200	Weak transcription	NHEK	skin
9	chr21:40778400-40787400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr21:40778400-40787400	Weak transcription	HSMM	muscle
11	chr21:40778400-40787800	Weak transcription	Spleen	Spleen
12	chr21:40778400-40788200	Weak transcription	Fetal Brain Male	brain
13	chr21:40778400-40816600	Weak transcription	Left Ventricle	heart
14	chr21:40779200-40784800	Weak transcription	Gastric	stomach
15	chr21:40779200-40785800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr21:40779200-40788800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr21:40779200-40801400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr21:40779800-40794000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr21:40779800-40794200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr21:40780200-40786400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr21:40780200-40791000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr21:40780400-40784600	Weak transcription	Fetal Intestine Large	intestine
23	chr21:40780400-40785600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr21:40780400-40786400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr21:40780400-40802200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr21:40780600-40784600	Weak transcription	Brain Anterior Caudate	brain
27	chr21:40780600-40786800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr21:40780600-40787400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr21:40780600-40787800	Weak transcription	Adipose Nuclei	Adipose
30	chr21:40780600-40787800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr21:40780600-40789800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr21:40780600-40790000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr21:40780600-40790600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr21:40780600-40794200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr21:40780600-40801800	Weak transcription	Lung	lung
36	chr21:40780800-40787400	Weak transcription	Fetal Brain Female	brain
37	chr21:40780800-40787400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr21:40780800-40789200	Weak transcription	Fetal Intestine Small	intestine
39	chr21:40780800-40791800	Weak transcription	Brain Substantia Nigra	brain
40	chr21:40780800-40794200	Weak transcription	Brain Germinal Matrix	brain
41	chr21:40781000-40788000	Weak transcription	Primary T cells from cord blood	blood
42	chr21:40781000-40788000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr21:40781200-40785800	Weak transcription	Thymus	Thymus
44	chr21:40781200-40787600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr21:40781200-40787800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr21:40781200-40798600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr21:40781200-40811000	Weak transcription	Aorta	Aorta
48	chr21:40781200-40813000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr21:40781200-40813200	Weak transcription	HSMMtube	muscle
50	chr21:40781400-40787600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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