Variant report

Variant	rs6440013
Chromosome Location	chr3:141304571-141304572
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	chr3:141303655..141305164-chr3:141310837..141312701,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11711375	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11916906	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11917587	0.93[ASN][1000 genomes]
rs13062809	0.88[EUR][1000 genomes]
rs13069717	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1366042	0.80[EUR][1000 genomes]
rs1493209	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1863867	0.80[ASN][1000 genomes]
rs2172471	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2639998	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs295320	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs295323	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35711802	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3806646	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3821710	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3821712	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6440015	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6763498	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6767158	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6776003	0.91[ASN][1000 genomes]
rs6785874	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6795168	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6800122	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6808837	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7632308	0.81[EUR][1000 genomes]
rs7643837	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9813177	0.87[EUR][1000 genomes];0.95[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	esv1794809	chr3:141290177-141304631	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	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
rs6440013	RASA2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141236400-141306600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr3:141254800-141319200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:141255200-141304800	Weak transcription	Ovary	ovary
4	chr3:141255200-141320000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:141255400-141319200	Weak transcription	Aorta	Aorta
6	chr3:141265200-141336200	Weak transcription	Psoas Muscle	Psoas
7	chr3:141272600-141319200	Strong transcription	Dnd41	blood
8	chr3:141275800-141320600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr3:141276400-141329400	Weak transcription	Small Intestine	intestine
10	chr3:141277200-141341400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:141277800-141312000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr3:141281800-141329400	Weak transcription	Fetal Brain Male	brain
13	chr3:141288000-141312400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:141288200-141320000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr3:141288400-141316400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr3:141288600-141308400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:141288600-141316400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr3:141289000-141311800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:141289000-141316600	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr3:141289200-141309000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr3:141289200-141316400	Strong transcription	Fetal Thymus	thymus
22	chr3:141293800-141319000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr3:141294800-141319200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:141295000-141319200	Weak transcription	Esophagus	oesophagus
25	chr3:141295200-141320000	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr3:141295400-141314000	Weak transcription	Colonic Mucosa	Colon
27	chr3:141295600-141319600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr3:141295600-141320000	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr3:141295800-141313000	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr3:141295800-141316400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:141295800-141320800	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr3:141296000-141316000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:141296200-141309000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr3:141296400-141307000	Strong transcription	Liver	Liver
35	chr3:141296400-141307600	Strong transcription	HSMM	muscle
36	chr3:141296600-141307400	Strong transcription	Duodenum Mucosa	Duodenum
37	chr3:141296600-141312200	Strong transcription	Primary B cells from cord blood	blood
38	chr3:141296800-141307600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
39	chr3:141296800-141307800	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr3:141296800-141310800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr3:141296800-141316400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr3:141296800-141316600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:141297000-141308000	Strong transcription	Placenta	Placenta
44	chr3:141297000-141313600	Strong transcription	Primary T cells from cord blood	blood
45	chr3:141297400-141307200	Weak transcription	Stomach Mucosa	stomach
46	chr3:141297400-141312400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:141297600-141316400	Strong transcription	Osteobl	bone
48	chr3:141297600-141325000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:141298000-141328400	Weak transcription	Hela-S3	cervix
50	chr3:141298600-141312600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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