Variant report

Variant	rs73433115
Chromosome Location	chr6:30544421-30544422
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	POLR2A	chr6:30544247-30544603	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:30544389-30544956	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ABCF1	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11548296	1.00[ASN][1000 genomes]
rs57529939	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58980373	1.00[ASN][1000 genomes]
rs60716469	1.00[ASN][1000 genomes]
rs60791005	1.00[ASN][1000 genomes]
rs61356961	1.00[ASN][1000 genomes]
rs61414974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6927597	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6927603	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73431018	1.00[ASN][1000 genomes]
rs73431081	1.00[ASN][1000 genomes]
rs73433105	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73433122	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73433127	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73433141	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73433149	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7751766	1.00[EUR][1000 genomes]
rs7754598	1.00[ASN][1000 genomes]
rs7757145	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
5	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
6	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
7	nsv884091	chr6:30526026-30590646	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	776 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30540000-30545400	Weak transcription	Aorta	Aorta
2	chr6:30540200-30544600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:30540200-30544600	Weak transcription	Fetal Kidney	kidney
4	chr6:30540200-30582200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:30540200-30582200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:30540400-30563000	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:30540800-30560800	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr6:30540800-30563600	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:30540800-30563600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr6:30540800-30563800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:30541000-30544600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:30541000-30544600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr6:30541000-30544600	Weak transcription	Pancreas	Pancrea
14	chr6:30541000-30545200	Weak transcription	Gastric	stomach
15	chr6:30541000-30545400	Weak transcription	Colonic Mucosa	Colon
16	chr6:30541000-30550400	Weak transcription	Fetal Brain Male	brain
17	chr6:30541200-30544600	Weak transcription	HMEC	breast
18	chr6:30541400-30567400	Weak transcription	Fetal Heart	heart
19	chr6:30541600-30544800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
20	chr6:30541600-30545000	Weak transcription	Small Intestine	intestine
21	chr6:30541600-30555400	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr6:30541600-30563000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr6:30541800-30544600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:30541800-30544800	Weak transcription	HUVEC	blood vessel
25	chr6:30541800-30558000	Strong transcription	NHLF	lung
26	chr6:30541800-30562800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:30541800-30565200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:30542000-30562800	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr6:30542200-30554800	Strong transcription	Primary B cells from cord blood	blood
30	chr6:30542200-30555000	Strong transcription	NHEK	skin
31	chr6:30542200-30556800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:30542200-30557800	Strong transcription	Placenta	Placenta
33	chr6:30542200-30563200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:30542200-30564000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr6:30542200-30581800	Weak transcription	Right Atrium	heart
36	chr6:30542400-30550400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr6:30542600-30558400	Strong transcription	Fetal Thymus	thymus
38	chr6:30542800-30563400	Strong transcription	Fetal Stomach	stomach
39	chr6:30543000-30562800	Strong transcription	Thymus	Thymus
40	chr6:30543200-30551400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:30543200-30554000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:30543200-30555000	Strong transcription	NHDF-Ad	bronchial
43	chr6:30543200-30555200	Strong transcription	Left Ventricle	heart
44	chr6:30543200-30557200	Strong transcription	Fetal Lung	lung
45	chr6:30543200-30557600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:30543200-30557800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:30543200-30557800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:30543200-30558000	Strong transcription	Lung	lung
49	chr6:30543200-30558000	Strong transcription	Osteobl	bone
50	chr6:30543200-30558200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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