Variant report

Variant	rs6697776
Chromosome Location	chr1:59015496-59015497
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:59015445-59015521	A549	lung:	n/a	n/a
2	CTCF	chr1:59015400-59015550	HRE	kidney:	n/a	n/a
3	TEAD4	chr1:59014648-59015535	K562	blood:	n/a	n/a
4	RAD21	chr1:59015321-59015629	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr1:59015353-59015624	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr1:59015425-59015532	HepG2	liver:	n/a	n/a
7	CEBPB	chr1:59015346-59015625	HepG2	liver:	n/a	n/a
8	CTCF	chr1:59015380-59015530	HEK293	kidney:	n/a	n/a
9	CEBPB	chr1:59014938-59015687	K562	blood:	n/a	n/a
10	CTCF	chr1:59015380-59015530	HepG2	liver:	n/a	n/a
11	MYC	chr1:59015005-59015542	K562	blood:	n/a	n/a
12	CTCF	chr1:59015360-59015510	WERI-Rb-1	eye:	n/a	n/a
13	CEBPB	chr1:59014986-59015678	K562	blood:	n/a	n/a
14	SMC3	chr1:59015429-59015545	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:59014802..59017431-chr1:59018623..59020469,2	K562	blood:
2	chr1:59010376..59013266-chr1:59015138..59019159,5	K562	blood:
3	chr1:58981796..58983981-chr1:59013881..59016702,2	K562	blood:
4	chr1:59010739..59013825-chr1:59014370..59019048,5	K562	blood:
5	chr1:59013352..59015102-chr1:59015166..59016765,2	MCF-7	breast:

No data

Variant related genes	Relation type
OMA1	TF binding region
DAB1	TF binding region
ENSG00000173406	Chromatin interaction
ENSG00000270209	Chromatin interaction
ENSG00000162600	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2406786	0.83[AFR][1000 genomes]
rs4912348	0.92[AFR][1000 genomes]
rs549237	0.91[YRI][hapmap];0.92[AFR][1000 genomes]
rs6674886	0.90[YRI][hapmap]
rs7550981	0.83[AFR][1000 genomes]
rs902925	0.81[YRI][hapmap];0.83[AFR][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	nsv1003930	chr1:58930444-59157038	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59012600-59016200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:59012800-59016000	Enhancers	HepG2	liver
3	chr1:59012800-59016600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:59012800-59017400	Weak transcription	Pancreas	Pancrea
5	chr1:59012800-59017600	Weak transcription	Aorta	Aorta
6	chr1:59013000-59016600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:59013000-59016600	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:59013000-59016600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:59013200-59017000	Weak transcription	Fetal Brain Male	brain
10	chr1:59014200-59015800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:59014400-59015800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:59014600-59016400	Enhancers	Fetal Intestine Small	intestine
13	chr1:59014600-59018000	Enhancers	Fetal Lung	lung
14	chr1:59014800-59016000	Enhancers	Primary hematopoietic stem cells	blood
15	chr1:59014800-59017400	Weak transcription	Ovary	ovary
16	chr1:59015200-59015600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr1:59015200-59015800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:59015200-59015800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:59015200-59015800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:59015200-59015800	Flanking Active TSS	K562	blood
21	chr1:59015200-59016200	Enhancers	Fetal Intestine Large	intestine
22	chr1:59015200-59016400	Enhancers	Fetal Kidney	kidney
23	chr1:59015400-59015600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:59015400-59016000	Enhancers	Placenta	Placenta

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