Variant report

Variant	rs17378658
Chromosome Location	chr4:95390157-95390158
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:95373775..95376611-chr4:95388871..95391803,3	K562	blood:
2	chr4:95389173..95390941-chr4:95459071..95461024,2	K562	blood:
3	chr4:95388967..95390908-chr4:95394700..95396781,2	K562	blood:

Variant related genes	Relation type
ENSG00000163110	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10027578	0.83[GIH][hapmap]
rs17379209	0.87[CEU][hapmap];0.89[EUR][1000 genomes]
rs2555216	0.88[EUR][1000 genomes]
rs2639793	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs28502775	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3805301	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs5002911	0.80[EUR][1000 genomes]
rs7670371	0.93[AMR][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	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17378658	PDLIM5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95374200-95395400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:95374200-95400000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:95374800-95398200	Weak transcription	Esophagus	oesophagus
4	chr4:95375000-95440200	Weak transcription	Primary T cells from cord blood	blood
5	chr4:95375800-95401600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:95376600-95392000	Weak transcription	Fetal Muscle Leg	muscle
7	chr4:95378800-95391200	Weak transcription	Placenta	Placenta
8	chr4:95379200-95391000	Enhancers	Liver	Liver
9	chr4:95379200-95398400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr4:95380200-95393400	Weak transcription	HSMMtube	muscle
11	chr4:95380600-95394600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr4:95381200-95391400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:95381200-95393400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr4:95381600-95393000	Weak transcription	NH-A	brain
15	chr4:95382600-95390200	Weak transcription	Brain Anterior Caudate	brain
16	chr4:95383000-95395800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr4:95383000-95396000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:95383000-95396000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:95384200-95393600	Weak transcription	Hela-S3	cervix
20	chr4:95385200-95390400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr4:95386000-95391400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr4:95386600-95390800	Enhancers	Fetal Heart	heart
23	chr4:95386600-95390800	Enhancers	HepG2	liver
24	chr4:95387400-95390400	Weak transcription	Right Atrium	heart
25	chr4:95387400-95390600	Weak transcription	Left Ventricle	heart
26	chr4:95387400-95392000	Weak transcription	Fetal Intestine Small	intestine
27	chr4:95387400-95393200	Weak transcription	Small Intestine	intestine
28	chr4:95387400-95410000	Weak transcription	NHLF	lung
29	chr4:95387400-95420800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:95387600-95391600	Weak transcription	A549	lung
31	chr4:95388000-95392800	Weak transcription	NHDF-Ad	bronchial
32	chr4:95388600-95390800	Enhancers	Gastric	stomach
33	chr4:95388600-95391400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:95388800-95390400	Genic enhancers	Osteobl	bone
35	chr4:95388800-95390600	Genic enhancers	Muscle Satellite Cultured Cells	--
36	chr4:95388800-95390600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
37	chr4:95388800-95390800	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr4:95388800-95390800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:95388800-95390800	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr4:95388800-95391000	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr4:95388800-95392400	Enhancers	Psoas Muscle	Psoas
42	chr4:95389000-95390800	Enhancers	Colon Smooth Muscle	Colon
43	chr4:95389200-95390200	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr4:95389200-95390200	Enhancers	HMEC	breast
45	chr4:95389200-95390800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:95389200-95390800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:95389200-95390800	Enhancers	Right Ventricle	heart
48	chr4:95389400-95390400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:95389400-95390600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:95389400-95390800	Enhancers	Ovary	ovary

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