Variant report

Variant	rs11097431
Chromosome Location	chr4:95506842-95506843
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	chr4:95498533..95501686-chr4:95504980..95507488,3	K562	blood:

Variant related genes	Relation type
ENSG00000163110	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10010013	0.89[EUR][1000 genomes]
rs10014050	0.91[EUR][1000 genomes]
rs10025288	0.85[MEX][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs10025410	0.82[CHB][hapmap];0.82[EUR][1000 genomes]
rs10084920	0.85[ASN][1000 genomes]
rs1043862	0.81[CHD][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs1056772	0.83[CHD][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap]
rs11097432	0.82[CHD][hapmap];0.85[MEX][hapmap];0.90[TSI][hapmap];0.83[EUR][1000 genomes]
rs11550270	0.81[EUR][1000 genomes]
rs11735212	0.85[ASN][1000 genomes]
rs12331809	0.82[EUR][1000 genomes]
rs12331835	0.82[EUR][1000 genomes]
rs12331920	0.81[EUR][1000 genomes]
rs17336353	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1802345	0.81[EUR][1000 genomes]
rs2452593	0.88[CEU][hapmap];0.88[JPT][hapmap];0.93[MEX][hapmap];0.88[TSI][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2452594	0.83[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28376560	0.82[EUR][1000 genomes]
rs28376694	0.81[EUR][1000 genomes]
rs28582311	0.80[EUR][1000 genomes]
rs28654759	0.81[EUR][1000 genomes]
rs28709926	0.81[EUR][1000 genomes]
rs3805271	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3805272	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3805288	0.85[ASW][hapmap]
rs3828518	1.00[ASW][hapmap];0.94[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.94[TSI][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4590045	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6816687	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7285	0.82[CHD][hapmap];0.85[MEX][hapmap];0.90[TSI][hapmap];0.81[EUR][1000 genomes]
rs7655928	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs7656545	0.94[CEU][hapmap];0.85[CHB][hapmap];0.89[EUR][1000 genomes]
rs7679284	0.85[CHB][hapmap]

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	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11097431	PDLIM5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95483400-95524400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:95484000-95507400	Weak transcription	Hela-S3	cervix
3	chr4:95489000-95507400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr4:95489200-95507400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr4:95489200-95509800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr4:95489600-95508200	Weak transcription	GM12878-XiMat	blood
7	chr4:95489600-95522800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:95489600-95539200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:95493200-95540200	Weak transcription	Small Intestine	intestine
10	chr4:95493200-95584800	Weak transcription	Primary B cells from cord blood	blood
11	chr4:95497200-95507400	Weak transcription	Primary T cells from cord blood	blood
12	chr4:95497200-95511000	Weak transcription	Ovary	ovary
13	chr4:95497200-95512600	Weak transcription	Aorta	Aorta
14	chr4:95497200-95512600	Weak transcription	Pancreas	Pancrea
15	chr4:95497200-95513800	Weak transcription	Right Ventricle	heart
16	chr4:95497200-95516200	Weak transcription	Right Atrium	heart
17	chr4:95497200-95520000	Weak transcription	Spleen	Spleen
18	chr4:95497200-95524600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:95497200-95524600	Weak transcription	Gastric	stomach
20	chr4:95497200-95524600	Weak transcription	Lung	lung
21	chr4:95497200-95526000	Weak transcription	Brain Angular Gyrus	brain
22	chr4:95497200-95553000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:95497200-95569400	Weak transcription	Esophagus	oesophagus
24	chr4:95497400-95507600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:95497400-95510200	Weak transcription	Fetal Kidney	kidney
26	chr4:95497400-95513600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr4:95497400-95515000	Weak transcription	Colonic Mucosa	Colon
28	chr4:95497400-95524200	Weak transcription	NHLF	lung
29	chr4:95497400-95526200	Weak transcription	Brain Hippocampus Middle	brain
30	chr4:95497400-95542000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:95497600-95507600	Weak transcription	K562	blood
32	chr4:95497600-95509200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr4:95497600-95510400	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr4:95497600-95513600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr4:95497600-95539200	Weak transcription	HepG2	liver
36	chr4:95497800-95507400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr4:95497800-95508800	Weak transcription	Fetal Thymus	thymus
38	chr4:95498400-95526200	Weak transcription	Brain Anterior Caudate	brain
39	chr4:95498600-95513400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr4:95498800-95511800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr4:95499000-95507400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr4:95499000-95516400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr4:95499800-95510200	Weak transcription	NHDF-Ad	bronchial
44	chr4:95499800-95515400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr4:95501200-95510000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr4:95502800-95512600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr4:95503200-95516000	Weak transcription	Stomach Mucosa	stomach
48	chr4:95504000-95509800	Weak transcription	Fetal Heart	heart
49	chr4:95504200-95510400	Strong transcription	HUVEC	blood vessel
50	chr4:95504600-95517400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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