Variant report

Variant	rs2172471
Chromosome Location	chr3:141331222-141331223
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	chr3:141326204..141327732-chr3:141330355..141332804,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11711375	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11916906	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11917587	0.88[ASN][1000 genomes]
rs13062809	0.87[EUR][1000 genomes]
rs13069717	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1493209	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2639998	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295320	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs295323	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35711802	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3806646	0.83[EUR][1000 genomes]
rs3821710	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3821712	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6440013	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6440015	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6763498	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6767158	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6776003	0.87[ASN][1000 genomes]
rs6785874	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6795168	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6800122	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6808837	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7643837	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9813177	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2172471	RASA2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141265200-141336200	Weak transcription	Psoas Muscle	Psoas
2	chr3:141277200-141341400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:141313200-141344000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:141320400-141333600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr3:141320400-141337200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:141321600-141331800	Weak transcription	Brain Substantia Nigra	brain
7	chr3:141321800-141342600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:141324000-141333800	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr3:141324200-141333600	Strong transcription	Primary B cells from peripheral blood	blood
10	chr3:141324200-141336000	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr3:141324600-141332000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:141324800-141332200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr3:141324800-141334000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:141325000-141332200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:141325000-141338000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:141325600-141333600	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr3:141325600-141335000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:141325800-141333600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:141326000-141332400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr3:141326000-141333000	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr3:141326200-141332600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr3:141326400-141332400	Strong transcription	HSMM	muscle
23	chr3:141326600-141334000	Strong transcription	Dnd41	blood
24	chr3:141326600-141334200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:141326600-141335400	Strong transcription	HUVEC	blood vessel
26	chr3:141326800-141331600	Strong transcription	Fetal Lung	lung
27	chr3:141326800-141331800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:141326800-141332000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr3:141326800-141332000	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr3:141326800-141332200	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr3:141326800-141332400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr3:141326800-141332400	Strong transcription	Duodenum Mucosa	Duodenum
33	chr3:141326800-141333200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:141326800-141334000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr3:141326800-141335600	Strong transcription	Primary B cells from cord blood	blood
36	chr3:141327000-141332000	Strong transcription	NHDF-Ad	bronchial
37	chr3:141327000-141332200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:141327000-141332200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:141327000-141332200	Strong transcription	Adipose Nuclei	Adipose
40	chr3:141327000-141332200	Strong transcription	Liver	Liver
41	chr3:141327000-141332400	Strong transcription	Fetal Thymus	thymus
42	chr3:141327000-141333400	Strong transcription	Placenta	Placenta
43	chr3:141327000-141333600	Strong transcription	Primary T cells from cord blood	blood
44	chr3:141327200-141332000	Strong transcription	HepG2	liver
45	chr3:141327200-141332200	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr3:141327400-141332400	Strong transcription	Osteobl	bone
47	chr3:141327400-141333000	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr3:141327600-141332200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr3:141327600-141332400	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr3:141327800-141333400	Strong transcription	Monocytes-CD14+_RO01746	blood

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