Variant report

Variant	rs6814522
Chromosome Location	chr4:186835727-186835728
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	JUND	chr4:186835544-186836455	Hela-S3	cervix:	n/a	n/a
2	MAFK	chr4:186835698-186836043	IMR90	lung:	n/a	n/a
3	TCF12	chr4:186835640-186836404	SK-N-SH	brain:	n/a	n/a
4	PBX3	chr4:186835725-186836217	SK-N-SH	brain:	n/a	n/a
5	RAD21	chr4:186835611-186836404	Hela-S3	cervix:	n/a	n/a
6	EP300	chr4:186835673-186836364	Hela-S3	cervix:	n/a	n/a
7	GATA3	chr4:186835662-186836312	SK-N-SH	brain:	n/a	n/a
8	KAP1	chr4:186835707-186836549	U2OS	brain:	n/a	n/a
9	EP300	chr4:186835701-186836258	SK-N-SH_RA	brain:	n/a	n/a
10	GATA3	chr4:186835688-186836411	SK-N-SH	brain:	n/a	n/a
11	TCF7L2	chr4:186835679-186836355	Hela-S3	cervix:	n/a	n/a
12	TCF7L2	chr4:186835513-186836938	HEK293	kidney:	n/a	n/a
13	CEBPB	chr4:186835462-186836423	Hela-S3	cervix:	n/a	n/a
14	PBX3	chr4:186835592-186836324	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000235149	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs28379611	1.00[ASN][1000 genomes]
rs28382289	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6849056	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72709741	1.00[ASN][1000 genomes]
rs72709743	1.00[ASN][1000 genomes]
rs72709748	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709750	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709754	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709761	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709762	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7695825	1.00[ASN][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	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1015236	chr4:186696172-187004074	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1022661	chr4:186789827-187122464	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv537422	chr4:186789827-187122464	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186831600-186835800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:186831600-186837600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr4:186832600-186836200	Enhancers	Osteobl	bone
4	chr4:186832800-186836200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:186832800-186838200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr4:186833400-186835800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:186834200-186837800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr4:186834400-186836600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr4:186834400-186837400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:186834400-186837600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:186834600-186835800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:186834600-186837200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr4:186834800-186836400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:186835000-186835800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:186835000-186836200	Weak transcription	Hela-S3	cervix
16	chr4:186835200-186836800	Enhancers	NHLF	lung
17	chr4:186835200-186837000	Enhancers	NH-A	brain
18	chr4:186835200-186837200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr4:186835600-186836400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr4:186835600-186836600	Enhancers	Fetal Lung	lung
21	chr4:186835600-186836600	Enhancers	HSMMtube	muscle
22	chr4:186835600-186836800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:186835600-186837400	Enhancers	HepG2	liver

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