Variant report

Variant	rs10020710
Chromosome Location	chr4:95431214-95431215
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:95429157..95431887-chr4:95434786..95438000,3	K562	blood:
2	chr4:95427467..95429085-chr4:95430722..95432306,2	K562	blood:
3	chr4:95372282..95374578-chr4:95428337..95431259,2	K562	blood:
4	chr4:95430387..95432047-chr4:95434786..95436356,2	K562	blood:
5	chr4:95406132..95409041-chr4:95429869..95431483,2	K562	blood:
6	chr4:95371846..95374578-chr4:95428736..95431275,4	K562	blood:

Variant related genes	Relation type
ENSG00000203436	Chromatin interaction
ENSG00000163110	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10019354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2577055	0.84[JPT][hapmap]
rs3912916	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs699861	0.81[CEU][hapmap]
rs7679284	0.87[CEU][hapmap]
rs774992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs902980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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
rs10020710	PDLIM5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95375000-95440200	Weak transcription	Primary T cells from cord blood	blood
2	chr4:95400800-95440000	Weak transcription	Lung	lung
3	chr4:95415400-95440200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr4:95421200-95440000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:95421400-95431400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr4:95421600-95440000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:95422400-95482800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:95423200-95436600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:95424600-95431800	Enhancers	Colon Smooth Muscle	Colon
10	chr4:95427800-95431400	Enhancers	Duodenum Mucosa	Duodenum
11	chr4:95429200-95431400	Enhancers	Left Ventricle	heart
12	chr4:95429200-95435600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr4:95429400-95436800	Weak transcription	HSMM	muscle
14	chr4:95429400-95437200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:95429600-95432400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:95429600-95436800	Weak transcription	NHEK	skin
17	chr4:95429800-95432200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:95429800-95436600	Weak transcription	HUVEC	blood vessel
19	chr4:95429800-95437400	Weak transcription	Aorta	Aorta
20	chr4:95429800-95437600	Weak transcription	Psoas Muscle	Psoas
21	chr4:95429800-95440000	Weak transcription	Esophagus	oesophagus
22	chr4:95429800-95440000	Weak transcription	Ovary	ovary
23	chr4:95430000-95437600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr4:95430000-95456200	Weak transcription	Small Intestine	intestine
25	chr4:95430200-95431800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:95430200-95432400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:95430200-95437400	Weak transcription	K562	blood
28	chr4:95430400-95431400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:95430400-95431400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr4:95430400-95431600	Weak transcription	Fetal Lung	lung
31	chr4:95430400-95433000	Enhancers	Fetal Heart	heart
32	chr4:95430400-95433800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:95430400-95436200	Weak transcription	Fetal Intestine Small	intestine
34	chr4:95430400-95436200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr4:95430400-95436200	Weak transcription	NH-A	brain
36	chr4:95430400-95436400	Weak transcription	Fetal Intestine Large	intestine
37	chr4:95430400-95437000	Weak transcription	NHDF-Ad	bronchial
38	chr4:95430400-95437200	Weak transcription	HMEC	breast
39	chr4:95430600-95434800	Weak transcription	Liver	Liver
40	chr4:95430600-95435800	Weak transcription	Osteobl	bone
41	chr4:95430600-95440000	Weak transcription	Right Ventricle	heart
42	chr4:95430600-95444000	Weak transcription	HSMMtube	muscle
43	chr4:95430800-95432000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:95430800-95436200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr4:95431000-95431800	Enhancers	HepG2	liver
46	chr4:95431000-95433000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:95431200-95431400	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr4:95431200-95431800	Flanking Active TSS	A549	lung
49	chr4:95431200-95434800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr4:95431200-95436800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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