Variant report

Variant	rs73749477
Chromosome Location	chr6:76134989-76134990
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	chr6:76134789-76135327	HUVEC	blood vessel:	n/a	chr6:76135135-76135147 chr6:76135136-76135146 chr6:76135138-76135145 chr6:76135135-76135146 chr6:76135137-76135145 chr6:76135137-76135146 chr6:76135131-76135140
2	FOSL2	chr6:76134535-76135395	SK-N-SH	brain:	n/a	chr6:76135135-76135147 chr6:76135136-76135146 chr6:76135138-76135145 chr6:76135137-76135145 chr6:76135137-76135146 chr6:76135131-76135140
3	FOS	chr6:76134956-76135331	MCF10A-Er-Src	breast:	n/a	chr6:76135135-76135147 chr6:76135136-76135146 chr6:76135138-76135145 chr6:76135135-76135146 chr6:76135137-76135145 chr6:76135137-76135146 chr6:76135131-76135140
4	GATA3	chr6:76134354-76135532	SK-N-SH	brain:	n/a	chr6:76135064-76135075
5	FOS	chr6:76134956-76135368	MCF10A-Er-Src	breast:	n/a	chr6:76135135-76135147 chr6:76135136-76135146 chr6:76135138-76135145 chr6:76135135-76135146 chr6:76135137-76135145 chr6:76135137-76135146 chr6:76135131-76135140
6	KAP1	chr6:76134869-76135418	U2OS	brain:	n/a	chr6:76135138-76135147
7	NFIC	chr6:76134403-76135330	SK-N-SH	brain:	n/a	n/a
8	EP300	chr6:76134472-76135412	SK-N-SH	brain:	n/a	chr6:76134845-76134859 chr6:76134664-76134678 chr6:76135136-76135145 chr6:76135137-76135146
9	RAD21	chr6:76134872-76135422	SK-N-SH_RA	brain:	n/a	n/a
10	FOSL2	chr6:76134793-76135358	A549	lung:	n/a	chr6:76135135-76135147 chr6:76135136-76135146 chr6:76135138-76135145 chr6:76135137-76135145 chr6:76135137-76135146 chr6:76135131-76135140
11	JUND	chr6:76134950-76135328	Hela-S3	cervix:	n/a	chr6:76135135-76135147 chr6:76135136-76135146 chr6:76135138-76135145 chr6:76135137-76135145 chr6:76135135-76135146 chr6:76135137-76135146 chr6:76135131-76135140
12	FOXP2	chr6:76134721-76135123	SK-N-MC	brain:	n/a	n/a
13	JUND	chr6:76134459-76135688	SK-N-SH	brain:	n/a	chr6:76135135-76135147 chr6:76135136-76135146 chr6:76135138-76135145 chr6:76135137-76135145 chr6:76135135-76135146 chr6:76135137-76135146 chr6:76135131-76135140
14	FOS	chr6:76134955-76135301	MCF10A-Er-Src	breast:	n/a	chr6:76135135-76135147 chr6:76135136-76135146 chr6:76135138-76135145 chr6:76135135-76135146 chr6:76135137-76135145 chr6:76135137-76135146 chr6:76135131-76135140
15	MYC	chr6:76134935-76135244	MCF10A-Er-Src	breast:	n/a	chr6:76135137-76135146 chr6:76135136-76135145
16	PBX3	chr6:76134491-76135339	SK-N-SH	brain:	n/a	n/a
17	TCF12	chr6:76134375-76135461	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr6:76134537-76135248	SK-N-SH	brain:	n/a	n/a
19	GATA3	chr6:76134718-76135460	MCF-7	breast:	n/a	chr6:76135064-76135075
20	TCF12	chr6:76134325-76135455	SK-N-SH	brain:	n/a	n/a
21	RAD21	chr6:76134915-76135251	SK-N-SH_RA	brain:	n/a	n/a
22	GATA3	chr6:76134325-76135496	SK-N-SH	brain:	n/a	chr6:76135064-76135075
23	JUND	chr6:76134972-76135292	HepG2	liver:	n/a	chr6:76135135-76135147 chr6:76135136-76135146 chr6:76135138-76135145 chr6:76135137-76135145 chr6:76135135-76135146 chr6:76135137-76135146 chr6:76135131-76135140
24	EP300	chr6:76134397-76135384	SK-N-SH	brain:	n/a	chr6:76134845-76134859 chr6:76134664-76134678 chr6:76135136-76135145 chr6:76135137-76135146
25	PBX3	chr6:76134447-76135338	SK-N-SH	brain:	n/a	n/a
26	JUND	chr6:76134520-76135413	SK-N-SH	brain:	n/a	chr6:76135135-76135147 chr6:76135136-76135146 chr6:76135138-76135145 chr6:76135137-76135145 chr6:76135135-76135146 chr6:76135137-76135146 chr6:76135131-76135140
27	TEAD4	chr6:76134472-76135345	SK-N-SH	brain:	n/a	n/a
28	SIN3AK20	chr6:76134728-76135473	MCF-7	breast:	n/a	n/a
29	TCF7L2	chr6:76134841-76135247	Hela-S3	cervix:	n/a	chr6:76135137-76135146
30	JUND	chr6:76134469-76135430	SK-N-SH	brain:	n/a	chr6:76135135-76135147 chr6:76135136-76135146 chr6:76135138-76135145 chr6:76135137-76135145 chr6:76135135-76135146 chr6:76135137-76135146 chr6:76135131-76135140
31	MAX	chr6:76134644-76135264	SK-N-SH	brain:	n/a	chr6:76135137-76135146 chr6:76135136-76135145
32	JUN	chr6:76134973-76135329	HUVEC	blood vessel:	n/a	chr6:76135135-76135147 chr6:76135136-76135146 chr6:76135138-76135145 chr6:76135137-76135145 chr6:76135137-76135146 chr6:76135131-76135140
33	EP300	chr6:76134522-76135421	SK-N-SH_RA	brain:	n/a	chr6:76134845-76134859 chr6:76134664-76134678 chr6:76135136-76135145 chr6:76135137-76135146
34	TEAD4	chr6:76134465-76135326	SK-N-SH	brain:	n/a	n/a
35	EP300	chr6:76134560-76135282	SK-N-SH_RA	brain:	n/a	chr6:76134845-76134859 chr6:76134664-76134678 chr6:76135136-76135145 chr6:76135137-76135146

No.	Distal block	Cell Line	Cell type
1	chr6:76129277..76131039-chr6:76134060..76136122,2	MCF-7	breast:
2	chr6:76125211..76128174-chr6:76133205..76135918,3	MCF-7	breast:
3	chr6:76133821..76136007-chr6:76137059..76139041,2	MCF-7	breast:

Variant related genes	Relation type
MIR4463	TF binding region
ENSG00000263533	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs60771949	0.87[AFR][1000 genomes]
rs73749649	1.00[AFR][1000 genomes]
rs73751827	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016804	chr6:75775846-76188585	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538310	chr6:75775846-76188585	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1024079	chr6:75848556-76238519	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1027915	chr6:75893542-76510113	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	nsv538311	chr6:75893542-76510113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
6	nsv1022428	chr6:76023118-76575620	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
7	nsv538312	chr6:76023118-76575620	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
8	nsv1032245	chr6:76045537-76545703	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
9	nsv538313	chr6:76045537-76545703	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
10	nsv886182	chr6:76096230-76194007	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76123200-76138800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr6:76129400-76139400	Weak transcription	Adipose Nuclei	Adipose
3	chr6:76131400-76135200	Weak transcription	Right Ventricle	heart
4	chr6:76131400-76136200	Weak transcription	Right Atrium	heart
5	chr6:76131600-76135000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:76131600-76135000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr6:76131600-76137200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:76132400-76135200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr6:76132600-76137400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:76132600-76138600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr6:76133400-76141200	Weak transcription	Lung	lung
12	chr6:76133600-76136200	Weak transcription	Left Ventricle	heart
13	chr6:76133800-76142200	Enhancers	Fetal Heart	heart
14	chr6:76134000-76135200	Weak transcription	Psoas Muscle	Psoas
15	chr6:76134000-76138000	Weak transcription	Aorta	Aorta
16	chr6:76134400-76135400	Enhancers	NHLF	lung
17	chr6:76134400-76135600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:76134600-76135400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:76134600-76135400	Enhancers	Fetal Lung	lung
20	chr6:76134600-76135400	Enhancers	NHDF-Ad	bronchial
21	chr6:76134600-76135600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:76134600-76135600	Enhancers	Colon Smooth Muscle	Colon
23	chr6:76134600-76135600	Enhancers	HUVEC	blood vessel
24	chr6:76134600-76136000	Enhancers	Hela-S3	cervix
25	chr6:76134600-76136600	Weak transcription	Fetal Muscle Leg	muscle
26	chr6:76134800-76135200	Flanking Active TSS	A549	lung
27	chr6:76134800-76135400	Enhancers	NH-A	brain
28	chr6:76134800-76135600	Enhancers	HMEC	breast
29	chr6:76134800-76135600	Enhancers	NHEK	skin
30	chr6:76134800-76136000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:76134800-76141000	Enhancers	Skeletal Muscle Female	skeletal muscle

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