Variant report

Variant	rs2433320
Chromosome Location	chr4:95370805-95370806
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr4:95370666-95370855	SH-SY5Y	brain:	n/a	n/a
2	STAT3	chr4:95370596-95371018	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95364111..95366992-chr4:95370315..95372013,2	K562	blood:

Variant related genes	Relation type
PDLIM5	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs17378777	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1820475	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2011525	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433322	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433323	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2433326	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433327	0.88[CEU][hapmap];0.81[MEX][hapmap]
rs2438140	0.80[MEX][hapmap]
rs2438146	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2438147	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2438148	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2452553	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2510762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2510763	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2510765	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2510777	0.83[MEX][hapmap]
rs2639793	0.86[YRI][hapmap];0.81[AFR][1000 genomes]
rs28697067	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34570027	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3805301	0.87[YRI][hapmap]
rs6812165	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs774982	0.88[CEU][hapmap];0.88[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs774984	0.81[MEX][hapmap]
rs9990678	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9990976	0.81[CEU][hapmap]

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

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95367800-95372200	Weak transcription	Psoas Muscle	Psoas
2	chr4:95368200-95371000	Enhancers	Fetal Intestine Large	intestine
3	chr4:95368200-95372000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:95368600-95372200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:95368600-95372200	Weak transcription	NH-A	brain
6	chr4:95368800-95372000	Weak transcription	HSMMtube	muscle
7	chr4:95369200-95371800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr4:95369400-95372400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:95369400-95373000	Weak transcription	Small Intestine	intestine
10	chr4:95369600-95372000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:95369600-95372200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:95369600-95372200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:95369600-95372200	Weak transcription	NHLF	lung
14	chr4:95369800-95372000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:95369800-95372200	Weak transcription	HSMM	muscle
16	chr4:95369800-95372200	Weak transcription	NHDF-Ad	bronchial
17	chr4:95369800-95372200	Weak transcription	Osteobl	bone
18	chr4:95370200-95371600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:95370200-95372000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:95370200-95372200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:95370200-95372200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:95370200-95372200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr4:95370200-95372200	Weak transcription	Brain Germinal Matrix	brain
24	chr4:95370400-95371000	Enhancers	HepG2	liver
25	chr4:95370400-95372000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:95370400-95372000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:95370400-95372000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr4:95370400-95372000	Weak transcription	HMEC	breast
29	chr4:95370400-95372200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:95370400-95372200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr4:95370400-95372200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr4:95370400-95372200	Weak transcription	NHEK	skin
33	chr4:95370600-95372000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr4:95370600-95372000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:95370600-95372000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr4:95370600-95372000	Weak transcription	A549	lung
37	chr4:95370600-95372200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr4:95370600-95372200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr4:95370600-95372200	Weak transcription	Fetal Intestine Small	intestine
40	chr4:95370600-95372200	Weak transcription	Fetal Kidney	kidney
41	chr4:95370600-95372200	Weak transcription	Hela-S3	cervix
42	chr4:95370600-95372200	Weak transcription	HUVEC	blood vessel
43	chr4:95370600-95372200	Weak transcription	K562	blood
44	chr4:95370600-95372400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr4:95370600-95372400	Weak transcription	Stomach Mucosa	stomach
46	chr4:95370800-95371800	Weak transcription	Fetal Heart	heart
47	chr4:95370800-95372200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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