Variant report

Variant	rs914957
Chromosome Location	chr1:94480991-94480992
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	JUN	chr1:94480404-94481071	K562	blood:	n/a	n/a
2	EP300	chr1:94480415-94481299	K562	blood:	n/a	chr1:94480847-94480854
3	JUN	chr1:94480267-94481683	K562	blood:	n/a	n/a
4	BHLHE40	chr1:94480403-94481020	K562	blood:	n/a	n/a
5	TBL1XR1	chr1:94480624-94481045	K562	blood:	n/a	n/a
6	CEBPB	chr1:94480617-94481004	K562	blood:	n/a	n/a
7	ATF3	chr1:94480451-94481047	K562	blood:	n/a	chr1:94480831-94480844
8	MYC	chr1:94480553-94481031	K562	blood:	n/a	chr1:94480833-94480842
9	RCOR1	chr1:94479906-94481335	K562	blood:	n/a	n/a
10	MAZ	chr1:94480408-94481254	K562	blood:	n/a	chr1:94480833-94480842
11	TEAD4	chr1:94480617-94481058	K562	blood:	n/a	n/a
12	ZMIZ1	chr1:94480225-94481114	K562	blood:	n/a	n/a
13	ZNF143	chr1:94480275-94480993	K562	blood:	n/a	n/a
14	MYC	chr1:94480310-94481202	K562	blood:	n/a	chr1:94480833-94480842
15	MAX	chr1:94480435-94481273	K562	blood:	n/a	chr1:94480833-94480842
16	CEBPB	chr1:94480557-94481142	HCT-116	colon:	n/a	n/a
17	CEBPB	chr1:94480617-94481031	K562	blood:	n/a	n/a
18	JUND	chr1:94480385-94481426	K562	blood:	n/a	n/a
19	CEBPB	chr1:94480675-94481016	IMR90	lung:	n/a	n/a
20	POLR2A	chr1:94480722-94481092	HCT-116	colon:	n/a	n/a
21	MYC	chr1:94480574-94480994	K562	blood:	n/a	chr1:94480833-94480842
22	CEBPB	chr1:94480674-94481019	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94467932..94470358-chr1:94480661..94482981,2	K562	blood:
2	chr1:94372270..94376088-chr1:94480112..94484516,4	K562	blood:

Variant related genes	Relation type
ABCA4	TF binding region
ENSG00000023909	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs914958	0.86[EUR][1000 genomes]
rs915199	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs915201	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516137	chr1:94404238-94504545	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv546850	chr1:94479468-94485277	Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94475400-94485600	Weak transcription	NH-A	brain
2	chr1:94477000-94481600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:94479000-94481600	Enhancers	K562	blood
4	chr1:94479200-94484800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:94479400-94484800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:94479400-94484800	Weak transcription	Placenta	Placenta
7	chr1:94479400-94486000	Weak transcription	HSMM	muscle
8	chr1:94479600-94486200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:94479800-94489200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:94480000-94484800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:94480200-94481200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:94480200-94481400	Enhancers	NHDF-Ad	bronchial
13	chr1:94480400-94481000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:94480400-94481000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:94480400-94481200	Enhancers	Osteobl	bone
16	chr1:94480400-94481600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:94480400-94484800	Weak transcription	Fetal Intestine Large	intestine
18	chr1:94480600-94481000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:94480600-94481000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:94480600-94481000	Enhancers	NHLF	lung
21	chr1:94480600-94482200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr1:94480800-94481000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:94480800-94481000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:94480800-94481600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:94480800-94482800	Weak transcription	HMEC	breast

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