Variant report

Variant	rs6650382
Chromosome Location	chr13:52123519-52123520
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	chr13:52123235-52123554	MCF10A-Er-Src	breast:	n/a	n/a
2	MTA3	chr13:52123136-52123736	GM12878	blood:	n/a	n/a
3	BHLHE40	chr13:52123242-52123624	K562	blood:	n/a	n/a
4	MAX	chr13:52122855-52123639	NB4	blood:	n/a	n/a
5	EGR1	chr13:52123294-52123626	K562	blood:	n/a	n/a
6	JUN	chr13:52123218-52123568	K562	blood:	n/a	n/a
7	ATF3	chr13:52123195-52123525	K562	blood:	n/a	n/a
8	EP300	chr13:52123168-52123604	HepG2	liver:	n/a	n/a
9	SPI1	chr13:52123177-52123671	GM12891	blood:	n/a	n/a
10	EGR1	chr13:52123355-52123566	GM12878	blood:	n/a	n/a
11	ELF1	chr13:52123201-52123628	GM12878	blood:	n/a	n/a
12	TBL1XR1	chr13:52123071-52123564	K562	blood:	n/a	n/a
13	EP300	chr13:52123081-52123645	K562	blood:	n/a	chr13:52123144-52123154
14	ELF1	chr13:52123195-52123693	K562	blood:	n/a	n/a
15	JUND	chr13:52123233-52123596	Hela-S3	cervix:	n/a	chr13:52123399-52123410
16	JUND	chr13:52123212-52123591	H1-hESC	embryonic stem cell:	n/a	chr13:52123399-52123410
17	FOSL2	chr13:52123166-52123619	HepG2	liver:	n/a	chr13:52123400-52123411
18	TEAD4	chr13:52123206-52123611	K562	blood:	n/a	n/a
19	BATF	chr13:52123216-52123576	GM12878	blood:	n/a	chr13:52123397-52123408 chr13:52123421-52123432
20	RUNX3	chr13:52123197-52123641	GM12878	blood:	n/a	n/a
21	NFIC	chr13:52123098-52123617	GM12878	blood:	n/a	n/a
22	MAX	chr13:52123234-52123611	K562	blood:	n/a	n/a
23	SPI1	chr13:52123027-52123633	GM12878	blood:	n/a	n/a
24	SP1	chr13:52123233-52123572	GM12878	blood:	n/a	n/a
25	SPI1	chr13:52123093-52123670	HL-60	blood:	n/a	n/a
26	JUN	chr13:52123077-52123678	K562	blood:	n/a	n/a
27	MYC	chr13:52122977-52123799	K562	blood:	n/a	n/a
28	ZBTB7A	chr13:52123248-52123650	K562	blood:	n/a	n/a
29	MAZ	chr13:52123132-52123653	K562	blood:	n/a	n/a
30	RUNX3	chr13:52123110-52123678	GM12878	blood:	n/a	n/a
31	SPI1	chr13:52123178-52123640	GM12878	blood:	n/a	n/a
32	BCL11A	chr13:52123179-52123610	GM12878	blood:	n/a	n/a
33	FOSL2	chr13:52123161-52123595	A549	lung:	n/a	chr13:52123400-52123411
34	MYC	chr13:52122951-52123628	NB4	blood:	n/a	n/a
35	STAT1	chr13:52123428-52123567	GM12878	blood:	n/a	n/a
36	JUND	chr13:52123228-52123570	HepG2	liver:	n/a	chr13:52123399-52123410
37	NFIC	chr13:52123102-52123682	GM12878	blood:	n/a	n/a
38	JUN	chr13:52123160-52123633	K562	blood:	n/a	n/a
39	SPI1	chr13:52123243-52123610	K562	blood:	n/a	n/a
40	BCLAF1	chr13:52123189-52123582	GM12878	blood:	n/a	n/a
41	RCOR1	chr13:52123190-52123575	K562	blood:	n/a	n/a
42	FOSL1	chr13:52123266-52123528	K562	blood:	n/a	n/a
43	EP300	chr13:52123231-52123577	GM12878	blood:	n/a	n/a
44	FOSL2	chr13:52123239-52123661	HepG2	liver:	n/a	chr13:52123400-52123411
45	UBTF	chr13:52123287-52123591	K562	blood:	n/a	n/a
46	NR2F2	chr13:52123162-52123522	K562	blood:	n/a	n/a
47	REST	chr13:52123199-52123642	PFSK-1	brain:	n/a	n/a
48	IRF4	chr13:52123109-52123682	GM12878	blood:	n/a	n/a
49	BATF	chr13:52123217-52123648	GM12878	blood:	n/a	chr13:52123397-52123408 chr13:52123421-52123432
50	RXRA	chr13:52123222-52123524	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:52122039..52124895-chr13:52125029..52128951,4	MCF-7	breast:
2	chr13:52122493..52124445-chr13:52397766..52400689,2	K562	blood:
3	chr13:52026677..52028551-chr13:52122962..52125114,3	K562	blood:
4	chr13:52024780..52027941-chr13:52120513..52124566,4	MCF-7	breast:

Variant related genes	Relation type
MIR4703	TF binding region
ENSG00000266611	Chromatin interaction
ENSG00000236778	Chromatin interaction
ENSG00000102786	Chromatin interaction
ENSG00000224892	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs57192077	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58723167	0.81[EUR][1000 genomes]
rs60108223	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60591998	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60996062	0.86[EUR][1000 genomes]
rs6650334	0.87[YRI][hapmap]
rs7332922	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1797261	chr13:52100949-52139113	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52116800-52132000	Weak transcription	Pancreas	Pancrea
2	chr13:52117000-52126200	Weak transcription	Adipose Nuclei	Adipose
3	chr13:52121200-52124200	Enhancers	HepG2	liver
4	chr13:52121800-52124800	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr13:52121800-52125400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr13:52122600-52124400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr13:52122800-52123600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr13:52122800-52123800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr13:52122800-52124000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr13:52122800-52124000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr13:52122800-52124000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr13:52122800-52124000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr13:52122800-52124000	Enhancers	K562	blood
14	chr13:52122800-52124200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr13:52122800-52126800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr13:52123000-52123600	Enhancers	Stomach Mucosa	stomach
17	chr13:52123000-52123800	Enhancers	GM12878-XiMat	blood
18	chr13:52123000-52123800	Enhancers	HMEC	breast
19	chr13:52123000-52123800	Enhancers	NHEK	skin
20	chr13:52123000-52124000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr13:52123000-52124000	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr13:52123000-52124400	Enhancers	Hela-S3	cervix
23	chr13:52123200-52123600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr13:52123200-52123600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr13:52123200-52123600	Enhancers	Primary B cells from cord blood	blood
26	chr13:52123200-52123600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr13:52123200-52123800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr13:52123200-52124000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr13:52123200-52124000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr13:52123200-52124000	Enhancers	Left Ventricle	heart
31	chr13:52123200-52124400	Enhancers	A549	lung
32	chr13:52123400-52123800	Enhancers	Esophagus	oesophagus
33	chr13:52123400-52124000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr13:52123400-52124000	Enhancers	Muscle Satellite Cultured Cells	--
35	chr13:52123400-52124000	Enhancers	NH-A	brain

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