Variant report

Variant	rs7674144
Chromosome Location	chr4:95554249-95554250
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95548477..95549979-chr4:95551940..95554436,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10015716	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1043848	0.95[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10590	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12500116	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12505788	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12510147	0.81[CEU][hapmap]
rs12511169	0.87[CEU][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs13121500	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1509620	0.90[CHB][hapmap]
rs17021918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17021972	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2136486	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs2280003	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2452591	0.80[EUR][1000 genomes]
rs2452592	0.83[EUR][1000 genomes]
rs2452597	0.81[CEU][hapmap]
rs2452600	0.81[CEU][hapmap]
rs2510767	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs35964087	0.92[EUR][1000 genomes]
rs3762876	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4699316	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61597100	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6817664	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6822544	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6837308	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7659399	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7681843	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7694162	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs998071	0.95[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7674144	PDLIM5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95493200-95584800	Weak transcription	Primary B cells from cord blood	blood
2	chr4:95497200-95569400	Weak transcription	Esophagus	oesophagus
3	chr4:95511200-95554800	Weak transcription	NHDF-Ad	bronchial
4	chr4:95515000-95562000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:95525000-95569600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:95525000-95586400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:95525000-95590000	Weak transcription	Lung	lung
8	chr4:95525400-95562200	Weak transcription	NHLF	lung
9	chr4:95527800-95592200	Weak transcription	Pancreas	Pancrea
10	chr4:95528000-95555000	Weak transcription	Aorta	Aorta
11	chr4:95533800-95594200	Weak transcription	Gastric	stomach
12	chr4:95537000-95563000	Weak transcription	K562	blood
13	chr4:95537600-95573400	Weak transcription	Spleen	Spleen
14	chr4:95537600-95592800	Weak transcription	Fetal Stomach	stomach
15	chr4:95538000-95585200	Weak transcription	Colonic Mucosa	Colon
16	chr4:95538200-95555200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:95538200-95582600	Weak transcription	Hela-S3	cervix
18	chr4:95538200-95586600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:95538600-95587000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr4:95539800-95561000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr4:95540000-95560600	Weak transcription	HepG2	liver
22	chr4:95540000-95566800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr4:95540000-95587000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr4:95540200-95597800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:95540400-95558600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:95540400-95561400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr4:95540400-95570400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:95540600-95555000	Weak transcription	Ovary	ovary
29	chr4:95541000-95572600	Weak transcription	Small Intestine	intestine
30	chr4:95541200-95595600	Weak transcription	Primary T cells from cord blood	blood
31	chr4:95541400-95554800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:95541400-95558800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr4:95541400-95559200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr4:95541400-95560800	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr4:95541400-95561200	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr4:95541400-95580200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr4:95541600-95554800	Weak transcription	Right Ventricle	heart
38	chr4:95541600-95561600	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr4:95541600-95571400	Weak transcription	Fetal Muscle Leg	muscle
40	chr4:95541800-95555000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:95543000-95586000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr4:95543000-95586400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr4:95545000-95561400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr4:95545200-95559400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:95545600-95560600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr4:95546000-95560400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr4:95546400-95554600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr4:95546400-95554800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:95546400-95554800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr4:95546400-95555000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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