Variant report

Variant	rs914958
Chromosome Location	chr1:94481068-94481069
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	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	RCOR1	chr1:94479906-94481335	K562	blood:	n/a	n/a
5	MAZ	chr1:94480408-94481254	K562	blood:	n/a	chr1:94480833-94480842
6	ZMIZ1	chr1:94480225-94481114	K562	blood:	n/a	n/a
7	MYC	chr1:94480310-94481202	K562	blood:	n/a	chr1:94480833-94480842
8	MAX	chr1:94480435-94481273	K562	blood:	n/a	chr1:94480833-94480842
9	CEBPB	chr1:94480557-94481142	HCT-116	colon:	n/a	n/a
10	JUND	chr1:94480385-94481426	K562	blood:	n/a	n/a
11	POLR2A	chr1:94480722-94481092	HCT-116	colon:	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: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17110858	1.00[CHD][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap]
rs56031604	1.00[ASN][1000 genomes]
rs914957	0.86[EUR][1000 genomes]
rs915199	0.81[GIH][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs915201	0.86[EUR][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	chr1:94480400-94481200	Enhancers	Osteobl	bone
14	chr1:94480400-94481600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:94480400-94484800	Weak transcription	Fetal Intestine Large	intestine
16	chr1:94480600-94482200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr1:94480800-94481600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:94480800-94482800	Weak transcription	HMEC	breast
19	chr1:94481000-94481400	Enhancers	Fetal Muscle Leg	muscle
20	chr1:94481000-94482800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:94481000-94485200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:94481000-94485600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:94481000-94485800	Weak transcription	NHLF	lung
24	chr1:94481000-94486000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:94481000-94486000	Weak transcription	Muscle Satellite Cultured Cells	--

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