Variant report

Variant	rs73365938
Chromosome Location	chr21:40782836-40782837
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40719273..40720815-chr21:40782667..40784260,2	K562	blood:
2	chr21:40719170..40722188-chr21:40780437..40783108,3	MCF-7	breast:
3	chr21:40759292..40761069-chr21:40781933..40784921,2	MCF-7	breast:
4	chr21:40782804..40784995-chr21:40816330..40818172,2	K562	blood:
5	chr21:40780937..40783613-chr21:40817578..40819918,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WRB-3	chr21:40782795-40782863	NONHSAT082187

No data

Variant related genes	Relation type
ENSG00000185437	Chromatin interaction
ENSG00000205581	Chromatin interaction
ENSG00000182093	Chromatin interaction
ENSG00000157578	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs59054920	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73365940	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73365943	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73365944	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40764600-40800600	Weak transcription	Psoas Muscle	Psoas
2	chr21:40766800-40783400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr21:40768200-40784600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr21:40769400-40783200	Weak transcription	Primary B cells from cord blood	blood
5	chr21:40770200-40785800	Weak transcription	Esophagus	oesophagus
6	chr21:40772600-40786400	Weak transcription	Fetal Heart	heart
7	chr21:40776600-40786200	Weak transcription	K562	blood
8	chr21:40778200-40783800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr21:40778200-40816600	Weak transcription	Pancreas	Pancrea
10	chr21:40778400-40783000	Weak transcription	HMEC	breast
11	chr21:40778400-40783200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr21:40778400-40784400	Weak transcription	NHDF-Ad	bronchial
13	chr21:40778400-40787200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr21:40778400-40787200	Weak transcription	NHEK	skin
15	chr21:40778400-40787400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr21:40778400-40787400	Weak transcription	HSMM	muscle
17	chr21:40778400-40787800	Weak transcription	Spleen	Spleen
18	chr21:40778400-40788200	Weak transcription	Fetal Brain Male	brain
19	chr21:40778400-40816600	Weak transcription	Left Ventricle	heart
20	chr21:40778800-40784400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr21:40779000-40783800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr21:40779200-40784800	Weak transcription	Gastric	stomach
23	chr21:40779200-40785800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr21:40779200-40788800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr21:40779200-40801400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr21:40779800-40783400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr21:40779800-40794000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr21:40779800-40794200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr21:40780000-40784400	Weak transcription	Fetal Lung	lung
30	chr21:40780200-40784400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr21:40780200-40786400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr21:40780200-40791000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr21:40780400-40783000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr21:40780400-40783000	Weak transcription	Fetal Kidney	kidney
35	chr21:40780400-40784600	Weak transcription	Fetal Intestine Large	intestine
36	chr21:40780400-40785600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr21:40780400-40786400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr21:40780400-40802200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr21:40780600-40783000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr21:40780600-40783800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr21:40780600-40784400	Weak transcription	Ovary	ovary
42	chr21:40780600-40784600	Weak transcription	Brain Anterior Caudate	brain
43	chr21:40780600-40786800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr21:40780600-40787400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr21:40780600-40787800	Weak transcription	Adipose Nuclei	Adipose
46	chr21:40780600-40787800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr21:40780600-40789800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr21:40780600-40790000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr21:40780600-40790600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr21:40780600-40794200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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