Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr1:78509589-78509828	K562	blood:	n/a	n/a
2	GATA3	chr1:78509508-78510021	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr1:78509492-78510059	SK-N-SH	brain:	n/a	n/a
4	CEBPB	chr1:78509704-78509946	Hela-S3	cervix:	n/a	n/a
5	GATA3	chr1:78509462-78509943	MCF-7	breast:	n/a	n/a
6	NFIC	chr1:78509595-78510140	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
GIPC2	TF binding region

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

rs_ID	r²[population]
rs1002553	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17100984	1.00[AMR][1000 genomes]
rs17101054	0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17101148	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17101171	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35117963	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78504000-78510400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:78504400-78510400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:78505000-78511000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:78505200-78510400	Weak transcription	HUVEC	blood vessel
5	chr1:78506800-78510800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:78507600-78509800	Enhancers	Pancreas	Pancrea
7	chr1:78508000-78510400	Enhancers	Fetal Intestine Small	intestine
8	chr1:78508400-78510400	Enhancers	Fetal Intestine Large	intestine
9	chr1:78508600-78511000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:78508800-78509800	Enhancers	Small Intestine	intestine
11	chr1:78509200-78509800	Enhancers	NHLF	lung
12	chr1:78509200-78510000	Enhancers	Hela-S3	cervix
13	chr1:78509200-78510200	Flanking Active TSS	HepG2	liver
14	chr1:78509200-78510600	Enhancers	Liver	Liver
15	chr1:78509200-78511000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr1:78509400-78509800	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr1:78509400-78509800	Enhancers	HSMM	muscle
18	chr1:78509400-78510400	Weak transcription	Right Ventricle	heart
19	chr1:78509400-78511000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr1:78509600-78509800	Bivalent Enhancer	Fetal Lung	lung
21	chr1:78509600-78509800	Active TSS	K562	blood
22	chr1:78509600-78510600	Enhancers	Adipose Nuclei	Adipose

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