Variant report

Variant	rs73230680
Chromosome Location	chr21:46546392-46546393
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	chr21:46546041-46546439	H1-neurons	neurons:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr21:46220973..46223679-chr21:46545721..46547824,2	MCF-7	breast:
2	chr21:46544212..46547881-chr21:46548757..46552730,5	K562	blood:
3	chr21:46292448..46294904-chr21:46544879..46546978,2	K562	blood:
4	chr21:46505531..46507502-chr21:46545208..46547761,2	MCF-7	breast:
5	chr21:46494891..46496808-chr21:46543893..46546977,3	K562	blood:
6	chr21:46347046..46349243-chr21:46545883..46548801,2	MCF-7	breast:
7	chr21:46541198..46544422-chr21:46544789..46547564,3	K562	blood:
8	chr21:46492248..46501057-chr21:46545477..46562980,48	K562	blood:
9	chr21:46533496..46535216-chr21:46545222..46548148,2	MCF-7	breast:

No data

Variant related genes	Relation type
ADARB1	TF binding region
ENSG00000268856	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000183255	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000267857	Chromatin interaction
ENSG00000236519	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs17004737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2032253	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838772	0.84[ASN][1000 genomes]
rs2838775	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838777	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838779	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838780	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838784	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838785	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2877003	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3171490	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs373249	1.00[ASN][1000 genomes]
rs375621	1.00[ASN][1000 genomes]
rs387536	1.00[ASN][1000 genomes]
rs406923	1.00[ASN][1000 genomes]
rs407157	1.00[ASN][1000 genomes]
rs412431	0.86[ASN][1000 genomes]
rs422205	0.93[ASN][1000 genomes]
rs423892	1.00[ASN][1000 genomes]
rs425176	1.00[ASN][1000 genomes]
rs437833	1.00[ASN][1000 genomes]
rs444789	1.00[ASN][1000 genomes]
rs451550	1.00[ASN][1000 genomes]
rs73230653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73230658	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73230662	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73230667	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230670	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230679	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv522002	chr21:46542670-46551702	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46516400-46549400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr21:46523000-46548200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr21:46526400-46549400	Weak transcription	Brain Substantia Nigra	brain
4	chr21:46529400-46549400	Weak transcription	Esophagus	oesophagus
5	chr21:46529800-46554800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr21:46530400-46548400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr21:46530400-46554600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr21:46530800-46554600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr21:46531400-46549600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr21:46531800-46548200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr21:46531800-46548200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr21:46531800-46548600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr21:46532600-46552400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr21:46532600-46570600	Weak transcription	Dnd41	blood
15	chr21:46532800-46548400	Weak transcription	Osteobl	bone
16	chr21:46534800-46549600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr21:46536000-46549000	Weak transcription	HMEC	breast
18	chr21:46536200-46546400	Weak transcription	Right Ventricle	heart
19	chr21:46537400-46548200	Weak transcription	HUVEC	blood vessel
20	chr21:46537400-46548200	Weak transcription	NHEK	skin
21	chr21:46537600-46548200	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr21:46538800-46552200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr21:46539000-46546400	Weak transcription	Fetal Intestine Small	intestine
24	chr21:46539600-46546800	Enhancers	Colon Smooth Muscle	Colon
25	chr21:46539800-46546400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr21:46540600-46546800	Weak transcription	Aorta	Aorta
27	chr21:46540600-46549400	Weak transcription	Gastric	stomach
28	chr21:46540800-46546600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr21:46541400-46548000	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr21:46541400-46548400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr21:46541600-46548400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr21:46541600-46548400	Weak transcription	Adipose Nuclei	Adipose
33	chr21:46541600-46549000	Enhancers	Primary B cells from peripheral blood	blood
34	chr21:46541800-46552400	Weak transcription	Fetal Brain Male	brain
35	chr21:46542200-46549400	Weak transcription	Fetal Lung	lung
36	chr21:46542800-46546400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr21:46542800-46551400	Weak transcription	Lung	lung
38	chr21:46543000-46549400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr21:46543600-46547000	Strong transcription	Hela-S3	cervix
40	chr21:46543800-46549600	Weak transcription	Pancreas	Pancrea
41	chr21:46544200-46558200	Weak transcription	HepG2	liver
42	chr21:46544200-46560400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr21:46544400-46546400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr21:46544400-46552400	Weak transcription	Thymus	Thymus
45	chr21:46544800-46546600	Enhancers	Spleen	Spleen
46	chr21:46544800-46548200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr21:46544800-46548400	Weak transcription	Brain Anterior Caudate	brain
48	chr21:46545000-46546400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr21:46545000-46554800	Enhancers	Fetal Muscle Leg	muscle
50	chr21:46545200-46546400	Enhancers	Stomach Smooth Muscle	stomach

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