Variant report

Variant	rs73771826
Chromosome Location	chr5:95298859-95298860
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	CUX1	chr5:95298633-95299160	K562	blood:	n/a	n/a
2	EP300	chr5:95297631-95298917	K562	blood:	n/a	chr5:95298844-95298858
3	SP1	chr5:95298336-95298859	H1-hESC	embryonic stem cell:	n/a	chr5:95298668-95298678
4	TEAD4	chr5:95298312-95298933	HepG2	liver:	n/a	n/a
5	POLR2A	chr5:95295239-95298876	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr5:95298509-95298864	H1-hESC	embryonic stem cell:	n/a	n/a
7	HEY1	chr5:95296694-95298864	HepG2	liver:	n/a	chr5:95297784-95297793 chr5:95297191-95297206 chr5:95297200-95297215 chr5:95297782-95297791 chr5:95297015-95297030
8	GATA1	chr5:95297641-95298887	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:95260360..95261946-chr5:95297991..95299734,2	K562	blood:
2	chr5:95297972..95300750-chr5:95328029..95330073,2	K562	blood:
3	chr5:95294835..95302887-chr5:95306601..95313873,11	K562	blood:

Variant related genes	Relation type
ELL2	TF binding region
ENSG00000213716	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs28926199	1.00[AMR][1000 genomes]
rs4330485	1.00[AMR][1000 genomes]
rs55652330	1.00[AMR][1000 genomes]
rs55757346	1.00[AMR][1000 genomes]
rs57217517	1.00[AMR][1000 genomes]
rs57808386	1.00[AMR][1000 genomes]
rs58292647	1.00[AMR][1000 genomes]
rs59433710	1.00[AMR][1000 genomes]
rs60897703	1.00[AMR][1000 genomes]
rs61572029	1.00[AMR][1000 genomes]
rs6870381	1.00[AMR][1000 genomes]
rs73136516	1.00[AMR][1000 genomes]
rs73771803	1.00[AMR][1000 genomes]
rs73771806	1.00[AMR][1000 genomes]
rs73771809	1.00[AMR][1000 genomes]
rs73771828	1.00[AMR][1000 genomes]
rs73771831	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73771837	1.00[AMR][1000 genomes]
rs73771838	1.00[AMR][1000 genomes]
rs73771843	1.00[AMR][1000 genomes]
rs73773854	1.00[AMR][1000 genomes]
rs73773855	1.00[AMR][1000 genomes]
rs7705187	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	esv3388808	chr5:95296221-95299069	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95298200-95299600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:95298400-95299000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:95298400-95299000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr5:95298400-95299200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:95298400-95299200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:95298400-95299600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:95298400-95299800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:95298400-95301600	Weak transcription	Fetal Intestine Small	intestine
9	chr5:95298400-95309200	Weak transcription	NHLF	lung
10	chr5:95298600-95299200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr5:95298600-95299200	Enhancers	HepG2	liver
12	chr5:95298600-95299600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:95298600-95300000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr5:95298600-95300000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:95298600-95300000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:95298600-95300000	Enhancers	HMEC	breast
17	chr5:95298600-95300000	Enhancers	K562	blood
18	chr5:95298600-95300200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr5:95298600-95300200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr5:95298600-95300200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr5:95298600-95300400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr5:95298600-95300600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr5:95298600-95301400	Weak transcription	A549	lung
24	chr5:95298600-95302000	Weak transcription	Fetal Intestine Large	intestine
25	chr5:95298600-95305000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:95298600-95305200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:95298800-95299000	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr5:95298800-95299200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr5:95298800-95299600	Weak transcription	Liver	Liver
30	chr5:95298800-95300000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr5:95298800-95300000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr5:95298800-95300000	Enhancers	NHEK	skin
33	chr5:95298800-95300600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:95298800-95300600	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr5:95298800-95301400	Weak transcription	Stomach Mucosa	stomach
36	chr5:95298800-95302000	Weak transcription	Gastric	stomach
37	chr5:95298800-95322600	Weak transcription	Pancreas	Pancrea

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