Variant report

Variant	rs11130293
Chromosome Location	chr3:51527703-51527704
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	chr3:51527107..51529591-chr3:51531690..51534592,3	K562	blood:
2	chr3:51527009..51529795-chr3:51531264..51535613,4	K562	blood:

Variant related genes	Relation type
ENSG00000145041	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1031925	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1055429	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10865970	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11130292	0.82[AMR][1000 genomes]
rs11721253	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11917683	1.00[CEU][hapmap]
rs1383251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1480353	1.00[CEU][hapmap]
rs1480354	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1480357	0.86[JPT][hapmap];0.89[YRI][hapmap]
rs1542574	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1552074	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17051734	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs17051762	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs2127655	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2164599	0.82[EUR][1000 genomes]
rs2219890	1.00[CEU][hapmap]
rs4234644	1.00[CEU][hapmap]
rs4317086	0.84[AMR][1000 genomes]
rs4355273	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs4611808	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4687568	0.88[AMR][1000 genomes]
rs4687569	0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4687721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4687734	0.88[AMR][1000 genomes]
rs4974104	1.00[CEU][hapmap]
rs4974105	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4974106	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4974109	0.86[JPT][hapmap];0.89[YRI][hapmap]
rs58816979	0.88[AFR][1000 genomes]
rs6445620	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes]
rs6445622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6445628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6445791	0.84[AMR][1000 genomes]
rs6771081	0.81[AMR][1000 genomes]
rs6771491	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6775666	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs6787312	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes]
rs6793900	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6809155	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7372658	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73834263	0.88[AFR][1000 genomes]
rs73834266	0.88[AFR][1000 genomes]
rs751075	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7625006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7625821	0.81[EUR][1000 genomes]
rs7633708	0.84[CEU][hapmap]
rs7648012	0.92[CEU][hapmap]
rs9311469	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11130293	TEX264	cis	Nerve Tibial	GTEx
rs11130293	TEX264	cis	Artery Tibial	GTEx
rs11130293	TEX264	cis	Esophagus Muscularis	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51491400-51532800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:51495000-51532600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:51495800-51531800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:51496000-51531800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:51496200-51530600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr3:51496200-51531000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr3:51499400-51532800	Weak transcription	Fetal Heart	heart
8	chr3:51500600-51532800	Weak transcription	Fetal Kidney	kidney
9	chr3:51501000-51532400	Weak transcription	Psoas Muscle	Psoas
10	chr3:51501000-51532800	Weak transcription	NH-A	brain
11	chr3:51504800-51533000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr3:51505000-51531600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr3:51505000-51533000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:51506600-51530800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:51506600-51532600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr3:51506600-51532600	Weak transcription	K562	blood
17	chr3:51508200-51529800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:51512400-51533000	Weak transcription	Aorta	Aorta
19	chr3:51515200-51529400	Weak transcription	Hela-S3	cervix
20	chr3:51515400-51532600	Weak transcription	HMEC	breast
21	chr3:51515400-51532800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr3:51516200-51533000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr3:51516400-51532800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:51516400-51533000	Weak transcription	Stomach Mucosa	stomach
25	chr3:51519000-51528600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr3:51519200-51529000	Strong transcription	Primary B cells from peripheral blood	blood
27	chr3:51519200-51530400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:51519400-51530600	Strong transcription	Fetal Stomach	stomach
29	chr3:51520400-51531000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr3:51520400-51531200	Strong transcription	Fetal Intestine Small	intestine
31	chr3:51521200-51530400	Strong transcription	Dnd41	blood
32	chr3:51521200-51530800	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr3:51521400-51528000	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr3:51521400-51528000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr3:51521400-51530200	Strong transcription	Liver	Liver
36	chr3:51521400-51530400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:51521400-51530600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr3:51521600-51530400	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr3:51521600-51532600	Weak transcription	NHDF-Ad	bronchial
40	chr3:51522200-51528000	Strong transcription	Primary T cells from cord blood	blood
41	chr3:51522600-51528600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr3:51522800-51531000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:51523200-51528000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:51523600-51531200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr3:51524400-51533000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:51524600-51532400	Weak transcription	GM12878-XiMat	blood
47	chr3:51524600-51532800	Weak transcription	Brain Angular Gyrus	brain
48	chr3:51524600-51532800	Weak transcription	HSMM	muscle
49	chr3:51525600-51532400	Weak transcription	Osteobl	bone
50	chr3:51525600-51532800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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