Variant report

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:65294611-65294701	MCF-7	breast:	n/a	n/a
2	CTCF	chr14:65294588-65294702	MCF-7	breast:	n/a	n/a
3	CTCF	chr14:65294580-65294730	Hela-S3	cervix:	n/a	n/a
4	SPI1	chr14:65294601-65294759	K562	blood:	n/a	chr14:65294693-65294706
5	CTCF	chr14:65294607-65294688	MCF-7	breast:	n/a	n/a
6	CTCF	chr14:65294597-65294688	Hela-S3	cervix:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65293069..65296062-chr14:65321540..65323696,2	K562	blood:
2	chr14:65293736..65296089-chr14:65308632..65311499,2	K562	blood:
3	chr14:65228221..65230600-chr14:65293367..65295100,2	MCF-7	breast:
4	chr14:65294605..65297271-chr14:65298357..65301785,4	K562	blood:
5	chr14:65294605..65296941-chr14:65298914..65301120,2	K562	blood:

No data

Variant related genes	Relation type
SPTB	TF binding region
ENSG00000070182	Chromatin interaction

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1006613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17826231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs189087	1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs229613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72726215	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8017631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv3693408	chr14:65292670-65358576	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65289800-65295200	Enhancers	Left Ventricle	heart
2	chr14:65290000-65295200	Enhancers	Psoas Muscle	Psoas
3	chr14:65291000-65295600	Enhancers	Fetal Muscle Leg	muscle
4	chr14:65291600-65296000	Enhancers	K562	blood
5	chr14:65292000-65297800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:65292400-65294800	Enhancers	Fetal Muscle Trunk	muscle
7	chr14:65292600-65297800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:65292800-65295000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr14:65293000-65294800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr14:65293000-65294800	Weak transcription	Right Ventricle	heart
11	chr14:65293600-65295600	Enhancers	HSMMtube	muscle
12	chr14:65293600-65297400	Weak transcription	Fetal Heart	heart
13	chr14:65294000-65297800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr14:65294400-65294800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr14:65294400-65295000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr14:65294400-65295000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr14:65294400-65295000	Enhancers	HMEC	breast
18	chr14:65294400-65295200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:65294600-65295200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:65294600-65295200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:65294600-65295200	Enhancers	Right Atrium	heart

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