Variant report

Variant	rs11119891
Chromosome Location	chr1:212421520-212421521
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212420552..212422423-chr1:212423039..212425557,2	K562	blood:
2	chr1:212414204..212417772-chr1:212418799..212421886,6	K562	blood:
3	chr1:212407788..212409741-chr1:212419930..212421774,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226251	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1011232	0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1056985	1.00[CEU][hapmap]
rs10735509	0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10779577	0.99[ASN][1000 genomes]
rs10863955	0.93[CEU][hapmap];0.82[CHB][hapmap];0.80[JPT][hapmap]
rs10863956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10863957	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10863958	0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10863965	1.00[CEU][hapmap]
rs11119886	0.93[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11119888	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11119890	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11119893	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11119903	0.81[EUR][1000 genomes]
rs11119907	1.00[AFR][1000 genomes]
rs11119908	1.00[AFR][1000 genomes]
rs11119910	0.91[CEU][hapmap];1.00[AFR][1000 genomes]
rs11119932	1.00[CEU][hapmap]
rs11119934	0.93[CEU][hapmap]
rs12118709	1.00[AFR][1000 genomes]
rs12118732	1.00[AFR][1000 genomes]
rs12119183	0.90[ASN][1000 genomes]
rs12119779	1.00[CEU][hapmap]
rs12124582	1.00[AFR][1000 genomes]
rs12127954	0.83[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12128965	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12129267	1.00[AFR][1000 genomes]
rs12133134	0.82[CHB][hapmap]
rs12133582	1.00[CEU][hapmap]
rs12134074	1.00[AFR][1000 genomes]
rs12136095	1.00[CEU][hapmap]
rs12137798	1.00[AFR][1000 genomes]
rs12141427	1.00[CEU][hapmap]
rs12143853	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12145377	0.92[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12145451	0.99[ASN][1000 genomes]
rs12145484	1.00[CEU][hapmap]
rs12146141	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12403586	1.00[CEU][hapmap]
rs12561785	1.00[AFR][1000 genomes]
rs12562618	1.00[AFR][1000 genomes]
rs1342152	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs14123	1.00[CEU][hapmap]
rs1493601	1.00[AFR][1000 genomes]
rs17018777	0.93[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap]
rs17018847	1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17018853	1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2298115	0.86[CEU][hapmap];1.00[AFR][1000 genomes]
rs3820513	1.00[CEU][hapmap]
rs4951597	1.00[CEU][hapmap]
rs61260530	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs884923	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs903119	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11119891	PPP2R5A	cis	Whole Blood	GTEx
rs11119891	PPP2R5A	cis	Thyroid	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212416600-212430000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:212418000-212423800	Weak transcription	Stomach Mucosa	stomach
3	chr1:212418200-212428400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:212419600-212422400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:212419800-212421600	Enhancers	Spleen	Spleen
6	chr1:212419800-212425200	Weak transcription	Primary B cells from cord blood	blood
7	chr1:212420600-212421600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:212420600-212421600	Enhancers	Left Ventricle	heart
9	chr1:212420600-212421600	Enhancers	Right Ventricle	heart
10	chr1:212420600-212421800	Enhancers	Fetal Lung	lung
11	chr1:212420600-212422000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:212420800-212421600	Enhancers	Colon Smooth Muscle	Colon
13	chr1:212420800-212421800	Enhancers	Liver	Liver
14	chr1:212420800-212422000	Enhancers	Fetal Intestine Large	intestine
15	chr1:212420800-212422000	Enhancers	Fetal Intestine Small	intestine
16	chr1:212421000-212421600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:212421000-212421600	Enhancers	Right Atrium	heart
18	chr1:212421000-212421600	Enhancers	Stomach Smooth Muscle	stomach
19	chr1:212421000-212421600	Enhancers	K562	blood
20	chr1:212421000-212422000	Enhancers	Adipose Nuclei	Adipose
21	chr1:212421000-212422400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr1:212421000-212423000	Enhancers	HepG2	liver
23	chr1:212421200-212421600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:212421200-212422400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr1:212421400-212421600	Enhancers	Psoas Muscle	Psoas

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