Variant report

Variant	rs72890842
Chromosome Location	chr2:172843278-172843279
allele	G/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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:172842580..172844275-chr2:172846200..172848485,2	K562	blood:
2	chr2:172841973..172843982-chr2:172863647..172866233,2	MCF-7	breast:
3	chr2:172837079..172839859-chr2:172842621..172845693,4	K562	blood:
4	chr2:172544105..172545740-chr2:172841443..172843888,2	K562	blood:
5	chr2:172837171..172840943-chr2:172841139..172845693,4	K562	blood:
6	chr2:172842580..172845060-chr2:172845399..172847700,2	K562	blood:
7	chr2:172842087..172844341-chr2:172857534..172860058,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000172878	Chromatin interaction
ENSG00000115840	Chromatin interaction
ENSG00000077380	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17428076	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55864623	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56133507	0.87[AMR][1000 genomes]
rs56218609	0.82[ASN][1000 genomes]
rs56401580	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62182425	0.81[AMR][1000 genomes]
rs62182429	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62182430	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62182432	0.83[AMR][1000 genomes]
rs62182437	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62182439	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62182444	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62182446	0.87[AMR][1000 genomes]
rs62183762	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62183763	0.87[AMR][1000 genomes]
rs62183765	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62183776	0.87[AMR][1000 genomes]
rs72889094	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72890841	0.87[AMR][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	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172780400-172848800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:172780600-172847400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:172780600-172854200	Weak transcription	Small Intestine	intestine
4	chr2:172783600-172851000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:172796000-172855200	Weak transcription	Gastric	stomach
6	chr2:172807400-172845400	Weak transcription	Spleen	Spleen
7	chr2:172808000-172847200	Weak transcription	Fetal Brain Female	brain
8	chr2:172808000-172849400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:172810000-172862600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:172811400-172846200	Weak transcription	Brain Substantia Nigra	brain
11	chr2:172811800-172852200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:172811800-172855600	Weak transcription	Fetal Heart	heart
13	chr2:172812400-172845200	Weak transcription	Colonic Mucosa	Colon
14	chr2:172813000-172859200	Weak transcription	Fetal Brain Male	brain
15	chr2:172814000-172844400	Weak transcription	Pancreas	Pancrea
16	chr2:172815400-172850000	Weak transcription	HSMMtube	muscle
17	chr2:172816800-172844200	Weak transcription	NHLF	lung
18	chr2:172817800-172845200	Weak transcription	Psoas Muscle	Psoas
19	chr2:172821000-172862800	Weak transcription	Brain Angular Gyrus	brain
20	chr2:172823000-172850400	Weak transcription	Right Ventricle	heart
21	chr2:172823200-172843600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:172823800-172843800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr2:172823800-172844000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:172823800-172851200	Weak transcription	Fetal Kidney	kidney
25	chr2:172824000-172857800	Weak transcription	Brain Anterior Caudate	brain
26	chr2:172824000-172857800	Weak transcription	Brain Hippocampus Middle	brain
27	chr2:172824200-172850000	Weak transcription	NHDF-Ad	bronchial
28	chr2:172824200-172850400	Weak transcription	HMEC	breast
29	chr2:172824400-172843800	Weak transcription	NHEK	skin
30	chr2:172824400-172847200	Weak transcription	NH-A	brain
31	chr2:172825800-172846400	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:172826400-172848400	Weak transcription	Hela-S3	cervix
33	chr2:172829200-172847000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:172829800-172848000	Weak transcription	HUVEC	blood vessel
35	chr2:172834400-172843800	Weak transcription	Left Ventricle	heart
36	chr2:172834600-172843400	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr2:172835800-172850200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr2:172836200-172851000	Strong transcription	Dnd41	blood
39	chr2:172836400-172844400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:172836400-172849200	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr2:172836400-172851000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:172836800-172843400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:172837400-172845600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:172837600-172843400	Weak transcription	A549	lung
45	chr2:172838000-172845600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:172838000-172846000	Weak transcription	Esophagus	oesophagus
47	chr2:172838800-172844000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:172838800-172849200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:172839000-172846200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:172839200-172849000	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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