Variant report

Variant	rs72889094
Chromosome Location	chr2:172794769-172794770
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172783996..172786927-chr2:172793285..172795381,2	K562	blood:
2	chr2:172788825..172792438-chr2:172794169..172796469,4	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17428076	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55681218	0.83[AMR][1000 genomes]
rs55864623	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56133507	0.83[AMR][1000 genomes]
rs56401580	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62182401	0.83[AMR][1000 genomes]
rs62182404	0.81[AMR][1000 genomes]
rs62182425	0.85[AMR][1000 genomes]
rs62182429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182430	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182432	0.87[AMR][1000 genomes]
rs62182437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182439	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62182444	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62182446	0.83[AMR][1000 genomes]
rs62183762	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62183763	0.83[AMR][1000 genomes]
rs62183765	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62183776	0.83[AMR][1000 genomes]
rs72890841	0.83[AMR][1000 genomes]
rs72890842	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[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	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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172779800-172828400	Weak transcription	Aorta	Aorta
2	chr2:172780000-172812800	Weak transcription	Lung	lung
3	chr2:172780000-172829000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:172780200-172795000	Weak transcription	Psoas Muscle	Psoas
5	chr2:172780200-172795400	Weak transcription	Gastric	stomach
6	chr2:172780200-172822200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:172780200-172840400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:172780400-172796600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:172780400-172820600	Weak transcription	Brain Angular Gyrus	brain
10	chr2:172780400-172848800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:172780600-172795200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:172780600-172811200	Weak transcription	HSMMtube	muscle
13	chr2:172780600-172811200	Weak transcription	NHEK	skin
14	chr2:172780600-172820600	Weak transcription	Brain Anterior Caudate	brain
15	chr2:172780600-172822200	Weak transcription	Liver	Liver
16	chr2:172780600-172822200	Weak transcription	Fetal Kidney	kidney
17	chr2:172780600-172847400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:172780600-172854200	Weak transcription	Small Intestine	intestine
19	chr2:172781000-172795400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:172781000-172811000	Weak transcription	Right Ventricle	heart
21	chr2:172781000-172811200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:172781200-172801400	Weak transcription	NHDF-Ad	bronchial
23	chr2:172781200-172808800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:172781200-172811200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:172781400-172822000	Weak transcription	HUVEC	blood vessel
26	chr2:172783600-172851000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:172783800-172796600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:172783800-172811200	Weak transcription	HMEC	breast
29	chr2:172784000-172804200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr2:172784000-172811400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:172784200-172795200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr2:172784200-172811200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:172784600-172815000	Weak transcription	Left Ventricle	heart
34	chr2:172785000-172811200	Weak transcription	Adipose Nuclei	Adipose
35	chr2:172785200-172796200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:172785400-172822200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:172785400-172822400	Weak transcription	Placenta	Placenta
38	chr2:172785600-172796400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:172785800-172796800	Weak transcription	A549	lung
40	chr2:172785800-172806400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr2:172785800-172822200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:172786200-172800600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr2:172786400-172797400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:172787000-172796400	Weak transcription	HSMM	muscle
45	chr2:172787000-172804400	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr2:172787000-172811400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:172787200-172795200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr2:172787200-172795600	Weak transcription	HepG2	liver
49	chr2:172787200-172796400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr2:172787200-172812800	Weak transcription	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links