Variant report

Variant	rs72874739
Chromosome Location	chr4:95369438-95369439
allele	C/T
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	FOS	chr4:95369401-95369557	MCF10A-Er-Src	breast:	n/a	n/a
2	TCF7L2	chr4:95368586-95369876	HEK293	kidney:	n/a	chr4:95369132-95369146 chr4:95369131-95369147 chr4:95369131-95369147
3	KAP1	chr4:95368379-95369839	HEK293	kidney:	n/a	n/a
4	KAP1	chr4:95368325-95369702	U2OS	brain:	n/a	n/a
5	CEBPB	chr4:95368803-95369627	Hela-S3	cervix:	n/a	chr4:95369278-95369289 chr4:95369034-95369047
6	TCF7L2	chr4:95368853-95369459	HCT-116	colon:	n/a	chr4:95369132-95369146 chr4:95369131-95369147 chr4:95369131-95369147
7	CEBPB	chr4:95369148-95369616	HepG2	liver:	n/a	chr4:95369278-95369289

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95347951..95350564-chr4:95367553..95369521,2	MCF-7	breast:

Variant related genes	Relation type
PDLIM5	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11097429	1.00[EUR][1000 genomes]
rs11932136	1.00[EUR][1000 genomes]
rs11932224	1.00[EUR][1000 genomes]
rs11933735	1.00[EUR][1000 genomes]
rs11935012	1.00[EUR][1000 genomes]
rs11935039	1.00[EUR][1000 genomes]
rs11935947	1.00[EUR][1000 genomes]
rs11938329	1.00[EUR][1000 genomes]
rs11938449	1.00[EUR][1000 genomes]
rs11939756	1.00[EUR][1000 genomes]
rs11940613	1.00[EUR][1000 genomes]
rs11941259	1.00[EUR][1000 genomes]
rs11941353	1.00[EUR][1000 genomes]
rs11942920	1.00[EUR][1000 genomes]
rs11946663	1.00[EUR][1000 genomes]
rs56827347	1.00[EUR][1000 genomes]
rs57984332	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs58528979	1.00[EUR][1000 genomes]
rs6845473	1.00[EUR][1000 genomes]
rs72874705	1.00[EUR][1000 genomes]
rs72874730	1.00[EUR][1000 genomes]
rs72874733	1.00[EUR][1000 genomes]
rs72874745	1.00[EUR][1000 genomes]
rs72874752	1.00[EUR][1000 genomes]
rs72874760	1.00[EUR][1000 genomes]
rs72874763	1.00[EUR][1000 genomes]
rs72874764	1.00[EUR][1000 genomes]
rs72874769	1.00[EUR][1000 genomes]
rs72874781	1.00[EUR][1000 genomes]
rs72874785	1.00[EUR][1000 genomes]
rs72874786	1.00[EUR][1000 genomes]
rs72874791	1.00[EUR][1000 genomes]
rs72874800	1.00[EUR][1000 genomes]
rs72874802	1.00[EUR][1000 genomes]
rs72876204	1.00[EUR][1000 genomes]
rs72876207	1.00[EUR][1000 genomes]
rs72876211	1.00[EUR][1000 genomes]
rs72876216	1.00[EUR][1000 genomes]
rs72876217	1.00[EUR][1000 genomes]
rs72876219	1.00[EUR][1000 genomes]
rs72876229	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72876241	1.00[EUR][1000 genomes]
rs72890408	1.00[EUR][1000 genomes]
rs72890416	1.00[EUR][1000 genomes]
rs7673478	1.00[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	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95366000-95369600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:95366600-95369800	Enhancers	Osteobl	bone
3	chr4:95367000-95369600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:95367200-95369800	Enhancers	HSMM	muscle
5	chr4:95367200-95369800	Enhancers	NHDF-Ad	bronchial
6	chr4:95367200-95370400	Enhancers	HMEC	breast
7	chr4:95367200-95370600	Enhancers	Hela-S3	cervix
8	chr4:95367400-95369600	Enhancers	NHLF	lung
9	chr4:95367400-95370200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:95367400-95370400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:95367400-95370400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:95367400-95370400	Enhancers	NHEK	skin
13	chr4:95367600-95369800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:95367800-95370600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr4:95367800-95372200	Weak transcription	Psoas Muscle	Psoas
16	chr4:95368200-95370000	Enhancers	HepG2	liver
17	chr4:95368200-95370200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:95368200-95371000	Enhancers	Fetal Intestine Large	intestine
19	chr4:95368200-95372000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:95368400-95370600	Enhancers	Fetal Intestine Small	intestine
21	chr4:95368400-95370600	Enhancers	K562	blood
22	chr4:95368600-95370200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr4:95368600-95372200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr4:95368600-95372200	Weak transcription	NH-A	brain
25	chr4:95368800-95370200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:95368800-95370600	Enhancers	HUVEC	blood vessel
27	chr4:95368800-95372000	Weak transcription	HSMMtube	muscle
28	chr4:95369000-95369600	Enhancers	A549	lung
29	chr4:95369000-95370600	Enhancers	Stomach Mucosa	stomach
30	chr4:95369200-95369600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:95369200-95369600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr4:95369200-95370400	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr4:95369200-95370400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr4:95369200-95370800	Enhancers	Fetal Heart	heart
35	chr4:95369200-95371800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr4:95369400-95369600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:95369400-95370600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:95369400-95372400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:95369400-95373000	Weak transcription	Small Intestine	intestine

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