Variant report

Variant	rs566833621
Chromosome Location	chr6:30973446-30973447
allele	A/G
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	MYC	chr6:30973076-30973727	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr6:30973056-30973754	MCF10A-Er-Src	breast:	n/a	n/a
3	FOXM1	chr6:30973256-30973904	GM12878	blood:	n/a	n/a
4	BATF	chr6:30973281-30973770	GM12878	blood:	n/a	n/a
5	NFIC	chr6:30972965-30973946	GM12878	blood:	n/a	n/a
6	STAT3	chr6:30973020-30973742	MCF10A-Er-Src	breast:	n/a	n/a
7	MTA3	chr6:30972909-30973770	GM12878	blood:	n/a	n/a
8	MEF2A	chr6:30973259-30973856	GM12878	blood:	n/a	n/a
9	RUNX3	chr6:30973035-30973897	GM12878	blood:	n/a	n/a
10	MEF2A	chr6:30973138-30973773	GM12878	blood:	n/a	n/a
11	RUNX3	chr6:30973311-30973774	GM12878	blood:	n/a	n/a
12	CREB1	chr6:30973235-30973814	GM12878	blood:	n/a	n/a
13	NFATC1	chr6:30973344-30973778	GM12878	blood:	n/a	n/a
14	MEF2C	chr6:30973232-30973865	GM12878	blood:	n/a	chr6:30973575-30973590
15	MTA3	chr6:30973140-30973870	GM12878	blood:	n/a	n/a
16	ATF2	chr6:30973365-30973754	GM12878	blood:	n/a	n/a
17	BCL3	chr6:30973432-30973825	GM12878	blood:	n/a	n/a
18	FOS	chr6:30973064-30973773	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr6:30972990-30973743	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr6:30973020-30973720	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:30971805..30974320-chr6:30984460..30987060,2	K562	blood:

Variant related genes	Relation type
MUC22	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	esv3358044	chr6:30940552-31000175	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1023108	chr6:30944982-30990490	Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv462745	chr6:30955681-30987176	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv601485	chr6:30955681-30987176	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv601486	chr6:30957618-30980015	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv970676	chr6:30966672-30987268	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv601487	chr6:30972589-30991559	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30965200-30975800	Weak transcription	Gastric	stomach
2	chr6:30970600-30978000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:30971200-30974800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:30972200-30974000	Enhancers	GM12878-XiMat	blood
5	chr6:30972400-30973600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:30972400-30973800	Enhancers	Fetal Heart	heart
7	chr6:30972400-30974400	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr6:30972600-30975000	Weak transcription	Left Ventricle	heart
9	chr6:30972600-30975200	Weak transcription	NHEK	skin
10	chr6:30972600-30975400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:30972600-30997600	Weak transcription	Right Atrium	heart
12	chr6:30973200-30975000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:30973400-30975000	Weak transcription	HMEC	breast
14	chr6:30973400-30976000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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