Variant report

Variant	rs62428470
Chromosome Location	chr6:149568138-149568139
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	SPI1	chr6:149567902-149568338	GM12878	blood:	n/a	chr6:149568125-149568134
2	RUNX3	chr6:149567764-149568367	GM12878	blood:	n/a	n/a
3	EP300	chr6:149568001-149568270	GM12878	blood:	n/a	chr6:149568125-149568139
4	CHD2	chr6:149567962-149568369	GM12878	blood:	n/a	n/a
5	IRF4	chr6:149567864-149568417	GM12878	blood:	n/a	n/a
6	RUNX3	chr6:149567813-149568319	GM12878	blood:	n/a	n/a
7	EP300	chr6:149567936-149568179	GM12878	blood:	n/a	chr6:149568125-149568139
8	MAZ	chr6:149568011-149568389	GM12878	blood:	n/a	n/a
9	PAX5	chr6:149567835-149568214	GM12878	blood:	n/a	chr6:149568125-149568134
10	SMC3	chr6:149567990-149568226	GM12878	blood:	n/a	n/a
11	ELF1	chr6:149567651-149568485	GM12878	blood:	n/a	n/a
12	RCOR1	chr6:149567773-149568213	GM12878	blood:	n/a	n/a
13	SPI1	chr6:149567903-149568364	HL-60	blood:	n/a	chr6:149568125-149568134
14	MTA3	chr6:149567759-149568447	GM12878	blood:	n/a	n/a
15	SP1	chr6:149567847-149568300	GM12878	blood:	n/a	chr6:149568236-149568250
16	TBL1XR1	chr6:149568000-149568225	GM12878	blood:	n/a	n/a
17	ZEB1	chr6:149567987-149568380	GM12878	blood:	n/a	chr6:149568208-149568217
18	NFATC1	chr6:149567860-149568263	GM12878	blood:	n/a	n/a
19	PAX5	chr6:149567698-149568347	GM12878	blood:	n/a	chr6:149568125-149568134
20	TBP	chr6:149567909-149568207	GM12878	blood:	n/a	n/a
21	SPI1	chr6:149567970-149568218	GM12878	blood:	n/a	chr6:149568125-149568134
22	SPI1	chr6:149567849-149568336	GM12891	blood:	n/a	chr6:149568125-149568134
23	PAX5	chr6:149567994-149568189	GM12878	blood:	n/a	chr6:149568125-149568134
24	BCLAF1	chr6:149567827-149568319	GM12878	blood:	n/a	chr6:149568125-149568134 chr6:149568197-149568205
25	BHLHE40	chr6:149568011-149568428	GM12878	blood:	n/a	n/a
26	STAT3	chr6:149568052-149568169	GM12878	blood:	n/a	n/a
27	WRNIP1	chr6:149567942-149568440	GM12878	blood:	n/a	n/a
28	ELK1	chr6:149568093-149568166	GM12878	blood:	n/a	n/a
29	ATF2	chr6:149567781-149568290	GM12878	blood:	n/a	n/a
30	EBF1	chr6:149568118-149568144	GM12878	blood:	n/a	n/a
31	BCLAF1	chr6:149567702-149568363	GM12878	blood:	n/a	chr6:149568125-149568134 chr6:149568197-149568205
32	BCL11A	chr6:149567931-149568266	GM12878	blood:	n/a	chr6:149568125-149568134 chr6:149568197-149568205
33	EBF1	chr6:149567887-149568304	GM12878	blood:	n/a	n/a
34	CHD1	chr6:149567896-149568147	GM12878	blood:	n/a	n/a
35	EBF1	chr6:149568011-149568240	GM12878	blood:	n/a	n/a
36	REST	chr6:149568014-149568191	Hela-S3	cervix:	n/a	n/a
37	SPI1	chr6:149567587-149568587	GM12878	blood:	n/a	chr6:149568125-149568134
38	MAX	chr6:149567991-149568428	GM12878	blood:	n/a	n/a
39	POLR2A	chr6:149567606-149568398	GM12892	blood:	n/a	n/a
40	CTCF	chr6:149568043-149568214	GM12878	blood:	n/a	n/a
41	SPI1	chr6:149567814-149568340	GM12891	blood:	n/a	chr6:149568125-149568134
42	POLR2A	chr6:149567689-149568240	GM12892	blood:	n/a	n/a
43	EP300	chr6:149567925-149568448	GM12878	blood:	n/a	chr6:149568125-149568139
44	RFX5	chr6:149567975-149568237	GM12878	blood:	n/a	n/a
45	IRF4	chr6:149567845-149568351	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000225924	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11963667	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12526921	0.80[ASN][1000 genomes]
rs57725287	0.87[ASN][1000 genomes]
rs62425952	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73781717	0.84[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	nsv1024776	chr6:149398652-149654593	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149563200-149569800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:149563600-149569800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:149567000-149570200	Enhancers	Primary B cells from cord blood	blood
4	chr6:149567200-149571000	Enhancers	Primary B cells from peripheral blood	blood
5	chr6:149567400-149568200	Enhancers	Primary hematopoietic stem cells	blood
6	chr6:149567400-149569000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr6:149567600-149568200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
8	chr6:149567600-149568400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr6:149567600-149568400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:149567600-149568400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr6:149567600-149568400	Flanking Active TSS	GM12878-XiMat	blood
12	chr6:149567600-149568600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr6:149567600-149568600	Enhancers	Fetal Thymus	thymus
14	chr6:149567600-149568800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:149567600-149569800	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr6:149567600-149570200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:149567800-149568200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr6:149567800-149568200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:149567800-149568200	Active TSS	Adipose Nuclei	Adipose
20	chr6:149567800-149568600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr6:149567800-149568600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr6:149567800-149568600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr6:149567800-149568600	Bivalent Enhancer	HepG2	liver
24	chr6:149567800-149568800	Enhancers	Primary T cells fromperipheralblood	blood
25	chr6:149568000-149568400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr6:149568000-149568400	Enhancers	Spleen	Spleen
27	chr6:149568000-149570800	Enhancers	Primary T cells from cord blood	blood

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