Variant report

Variant	rs73232640
Chromosome Location	chr21:46552774-46552775
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46377934..46380318-chr21:46552188..46553755,2	K562	blood:
2	chr21:46492248..46501057-chr21:46545477..46562980,48	K562	blood:
3	chr21:46532796..46535414-chr21:46551102..46553894,2	K562	blood:
4	chr21:46552512..46554278-chr21:46555488..46557400,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235374	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000267857	Chromatin interaction
ENSG00000160256	Chromatin interaction

Extended variants
information (count: 33 )
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]
rs73230680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46529800-46554800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr21:46530400-46554600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr21:46530800-46554600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr21:46532600-46570600	Weak transcription	Dnd41	blood
5	chr21:46544200-46558200	Weak transcription	HepG2	liver
6	chr21:46544200-46560400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr21:46545000-46554800	Enhancers	Fetal Muscle Leg	muscle
8	chr21:46545600-46553200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr21:46546600-46554600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr21:46546800-46552800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr21:46546800-46555200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr21:46548200-46553400	Enhancers	Colon Smooth Muscle	Colon
13	chr21:46548200-46553600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr21:46548600-46554000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr21:46548600-46554400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr21:46548600-46571600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr21:46548800-46554800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr21:46548800-46558400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr21:46549800-46553000	Weak transcription	Esophagus	oesophagus
20	chr21:46549800-46554600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr21:46549800-46554800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr21:46549800-46557200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr21:46549800-46559400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr21:46549800-46567600	Weak transcription	Gastric	stomach
25	chr21:46550000-46552800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr21:46550000-46552800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr21:46550000-46553400	Weak transcription	Brain Substantia Nigra	brain
28	chr21:46550000-46555800	Weak transcription	Aorta	Aorta
29	chr21:46550000-46567800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr21:46550200-46552800	Weak transcription	Right Atrium	heart
31	chr21:46550200-46553800	Enhancers	Fetal Muscle Trunk	muscle
32	chr21:46550400-46571200	Weak transcription	Brain Germinal Matrix	brain
33	chr21:46550600-46552800	Weak transcription	Stomach Mucosa	stomach
34	chr21:46550800-46552800	Enhancers	HSMMtube	muscle
35	chr21:46550800-46553000	Enhancers	HUVEC	blood vessel
36	chr21:46550800-46553400	Enhancers	Adipose Nuclei	Adipose
37	chr21:46550800-46553600	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr21:46550800-46554600	Weak transcription	Fetal Intestine Small	intestine
39	chr21:46550800-46563600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr21:46551000-46552800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr21:46551000-46553600	Genic enhancers	Muscle Satellite Cultured Cells	--
42	chr21:46551000-46556400	Weak transcription	K562	blood
43	chr21:46551000-46562400	Weak transcription	HMEC	breast
44	chr21:46551200-46553400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr21:46551200-46553600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr21:46551200-46557000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr21:46551200-46557000	Strong transcription	Hela-S3	cervix
48	chr21:46551200-46557400	Weak transcription	Fetal Intestine Large	intestine
49	chr21:46551400-46553000	Weak transcription	Fetal Heart	heart
50	chr21:46551400-46553400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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