Variant report

Variant	rs17021972
Chromosome Location	chr4:95590158-95590159
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	chr4:95582862..95585353-chr4:95588857..95590982,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10015716	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1043848	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500116	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12505788	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12511169	0.81[CEU][hapmap];0.90[EUR][1000 genomes]
rs13121500	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17021918	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2136486	0.83[CEU][hapmap];0.90[EUR][1000 genomes]
rs2280003	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35964087	0.91[EUR][1000 genomes]
rs3762876	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699316	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61597100	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6817664	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6822544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6837308	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7659399	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7674144	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7681843	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7694162	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs998071	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1005816	chr4:95573444-95902704	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17021972	PDLIM5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95527800-95592200	Weak transcription	Pancreas	Pancrea
2	chr4:95533800-95594200	Weak transcription	Gastric	stomach
3	chr4:95537600-95592800	Weak transcription	Fetal Stomach	stomach
4	chr4:95540200-95597800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr4:95541200-95595600	Weak transcription	Primary T cells from cord blood	blood
6	chr4:95559000-95590200	Weak transcription	Right Ventricle	heart
7	chr4:95564000-95595000	Weak transcription	NHDF-Ad	bronchial
8	chr4:95570800-95599800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:95573600-95595000	Weak transcription	Small Intestine	intestine
10	chr4:95574800-95591600	Weak transcription	Stomach Mucosa	stomach
11	chr4:95575000-95590800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:95575800-95590200	Strong transcription	Osteobl	bone
13	chr4:95576200-95598000	Weak transcription	Aorta	Aorta
14	chr4:95576200-95598200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:95578600-95593800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:95579000-95592400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:95580000-95597800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:95582000-95595400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr4:95582000-95599800	Weak transcription	NHEK	skin
20	chr4:95582400-95592200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:95582400-95594200	Weak transcription	Esophagus	oesophagus
22	chr4:95582400-95596200	Weak transcription	Fetal Muscle Leg	muscle
23	chr4:95582400-95598200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:95582600-95593800	Weak transcription	Ovary	ovary
25	chr4:95582600-95600000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:95582800-95598000	Weak transcription	Fetal Heart	heart
27	chr4:95585000-95592200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:95585200-95592200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:95585200-95592200	Weak transcription	Adipose Nuclei	Adipose
30	chr4:95585200-95593600	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr4:95585200-95598200	Weak transcription	Colon Smooth Muscle	Colon
32	chr4:95585800-95590400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr4:95586000-95594000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr4:95586000-95598000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:95586600-95594000	Weak transcription	Fetal Intestine Small	intestine
36	chr4:95586600-95594200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr4:95587400-95590200	Strong transcription	HMEC	breast
38	chr4:95587400-95598000	Weak transcription	HSMMtube	muscle
39	chr4:95587600-95590200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:95587600-95590800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr4:95587600-95591000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr4:95587600-95591200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:95587600-95592200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:95587600-95592200	Weak transcription	Left Ventricle	heart
45	chr4:95587800-95598400	Weak transcription	HSMM	muscle
46	chr4:95588000-95598400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr4:95588000-95599800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:95588200-95595200	Weak transcription	Placenta	Placenta
49	chr4:95588600-95594200	Weak transcription	Psoas Muscle	Psoas
50	chr4:95588800-95590200	Genic enhancers	A549	lung

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