Variant report

Variant	rs6583315
Chromosome Location	chr3:196260098-196260099
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr3:196260041-196260263	H1-hESC	embryonic stem cell:	n/a	n/a
2	USF1	chr3:196259913-196260483	H1-hESC	embryonic stem cell:	n/a	n/a
3	RXRA	chr3:196260065-196260574	H1-hESC	embryonic stem cell:	n/a	n/a
4	POU5F1	chr3:196260086-196260403	H1-hESC	embryonic stem cell:	n/a	n/a
5	GATA3	chr3:196260088-196260545	T-47D	breast:	n/a	n/a
6	ATF2	chr3:196259971-196260565	H1-hESC	embryonic stem cell:	n/a	n/a
7	SP1	chr3:196259981-196260636	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr3:196260071-196260495	H1-hESC	embryonic stem cell:	n/a	n/a
9	NANOG	chr3:196260028-196260600	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr3:196259925-196260624	H1-hESC	embryonic stem cell:	n/a	n/a
11	EP300	chr3:196260001-196260659	H1-hESC	embryonic stem cell:	n/a	n/a
12	TEAD4	chr3:196260027-196260716	H1-hESC	embryonic stem cell:	n/a	n/a
13	JUND	chr3:196259997-196260541	H1-hESC	embryonic stem cell:	n/a	n/a
14	SP1	chr3:196260008-196260494	H1-hESC	embryonic stem cell:	n/a	n/a
15	SP4	chr3:196260050-196260594	H1-hESC	embryonic stem cell:	n/a	n/a
16	USF2	chr3:196260006-196260409	H1-hESC	embryonic stem cell:	n/a	n/a
17	USF1	chr3:196259849-196260403	H1-hESC	embryonic stem cell:	n/a	n/a
18	TEAD4	chr3:196259943-196260662	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr3:196259994-196260491	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTBP2	chr3:196260087-196260619	H1-hESC	embryonic stem cell:	n/a	n/a
21	HDAC2	chr3:196259967-196260566	H1-hESC	embryonic stem cell:	n/a	n/a
22	POU5F1	chr3:196260022-196260573	H1-hESC	embryonic stem cell:	n/a	n/a
23	USF1	chr3:196259928-196260195	K562	blood:	n/a	n/a
24	CEBPB	chr3:196259843-196260535	H1-hESC	embryonic stem cell:	n/a	n/a
25	TCF12	chr3:196259997-196260560	H1-hESC	embryonic stem cell:	n/a	n/a
26	JUND	chr3:196260058-196260465	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:196259672..196262554-chr3:196667256..196669861,2	K562	blood:
2	chr3:196250537..196252954-chr3:196257555..196260247,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000213358	TF binding region
ENSG00000225770	TF binding region
ENSG00000114503	Chromatin interaction
ENSG00000270170	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2054747	1.00[ASN][1000 genomes]
rs2341333	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6583312	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6583314	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6583316	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6767712	1.00[ASN][1000 genomes]
rs6768682	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6783108	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6786154	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6807731	1.00[ASN][1000 genomes]
rs7374776	1.00[ASN][1000 genomes]
rs7615630	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7616415	1.00[ASN][1000 genomes]
rs7623203	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7625068	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7633212	1.00[ASN][1000 genomes]
rs7640505	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9850782	0.84[AMR][1000 genomes]
rs9866935	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv1003066	chr3:196098763-196414159	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer 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	55 gene(s)	inside rSNPs	diseases
4	esv2752687	chr3:196147690-196286690	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv948681	chr3:196148055-197007546	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
6	nsv1010483	chr3:196210054-196319543	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv536896	chr3:196210054-196319543	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv1014692	chr3:196242249-196531824	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
9	esv2763750	chr3:196242261-196278366	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv878187	chr3:196245603-196554790	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv967108	chr3:196255474-196263970	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196255800-196260400	Weak transcription	HepG2	liver
2	chr3:196256200-196260800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr3:196256400-196260200	Weak transcription	Placenta	Placenta
4	chr3:196259600-196260200	Enhancers	H9 Cell Line	embryonic stem cell
5	chr3:196259600-196260200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:196259600-196260200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr3:196259600-196261200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:196259800-196260200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:196259800-196260600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:196260000-196260200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr3:196260000-196260200	Enhancers	K562	blood
12	chr3:196260000-196260400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:196260000-196260600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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