Variant report

Variant	rs17110878
Chromosome Location	chr1:94488398-94488399
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr1:94487936-94488518	A549	lung:	n/a	n/a
2	FOXA1	chr1:94488017-94488472	HepG2	liver:	n/a	n/a
3	CEBPB	chr1:94487992-94488410	IMR90	lung:	n/a	n/a
4	TCF7L2	chr1:94487837-94488410	Hela-S3	cervix:	n/a	n/a
5	JUND	chr1:94488132-94488425	A549	lung:	n/a	n/a
6	TAF1	chr1:94487988-94488477	PFSK-1	brain:	n/a	n/a
7	FOXA1	chr1:94488076-94488461	HepG2	liver:	n/a	n/a
8	FOXA1	chr1:94488011-94488475	HepG2	liver:	n/a	n/a
9	TCF7L2	chr1:94488090-94488415	PANC-1	pancreas:	n/a	n/a
10	FOSL2	chr1:94488074-94488398	A549	lung:	n/a	n/a
11	MAFK	chr1:94488292-94488442	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr1:94488260-94488410	HCPEpiC	choroid plexus:	n/a	n/a
13	CTCF	chr1:94488280-94488430	AG04449	skin:	n/a	n/a
14	POLR2A	chr1:94488043-94488510	U87	brain:	n/a	n/a
15	CTCF	chr1:94488260-94488410	HMEC	breast:	n/a	n/a
16	POLR2A	chr1:94488015-94488472	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr1:94488260-94488410	HMF	breast:	n/a	n/a
18	SMC3	chr1:94488159-94488432	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr1:94488088-94488468	Hela-S3	cervix:	n/a	n/a
20	RAD21	chr1:94488046-94488398	IMR90	lung:	n/a	n/a
21	FOXA2	chr1:94488043-94488436	A549	lung:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:94486634..94489091-chr1:94489455..94492220,2	K562	blood:
2	chr1:94483711..94487548-chr1:94487592..94490547,4	K562	blood:
3	chr1:94487090..94490085-chr1:94490774..94492768,2	MCF-7	breast:
4	chr1:94474072..94476669-chr1:94488321..94489901,2	MCF-7	breast:

No data

Variant related genes	Relation type
ABCA4	TF binding region
ENSG00000198691	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11165061	1.00[TSI][hapmap]
rs11804053	1.00[EUR][1000 genomes]
rs11804187	1.00[EUR][1000 genomes]
rs11809706	1.00[MEX][hapmap]
rs17110898	1.00[EUR][1000 genomes]
rs17878956	1.00[EUR][1000 genomes]
rs17881957	1.00[EUR][1000 genomes]
rs17884580	1.00[EUR][1000 genomes]
rs17884925	1.00[EUR][1000 genomes]
rs17885147	1.00[EUR][1000 genomes]
rs34212520	1.00[EUR][1000 genomes]
rs56260099	1.00[EUR][1000 genomes]
rs60759501	1.00[EUR][1000 genomes]
rs61597540	1.00[EUR][1000 genomes]
rs6677399	1.00[EUR][1000 genomes]
rs74102018	1.00[EUR][1000 genomes]
rs74102090	1.00[EUR][1000 genomes]
rs7519657	1.00[TSI][hapmap]
rs7535837	1.00[EUR][1000 genomes]
rs7550770	1.00[EUR][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	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

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94479800-94489200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:94483800-94492400	Weak transcription	Left Ventricle	heart
3	chr1:94484800-94488400	Enhancers	Placenta	Placenta
4	chr1:94484800-94488600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:94484800-94488600	Enhancers	Fetal Intestine Large	intestine
6	chr1:94484800-94488800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:94485600-94488800	Enhancers	NH-A	brain
8	chr1:94485600-94489000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:94485600-94489000	Enhancers	Osteobl	bone
10	chr1:94485600-94489600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr1:94485800-94488600	Enhancers	Fetal Intestine Small	intestine
12	chr1:94485800-94489000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:94485800-94489400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:94485800-94490000	Enhancers	HUVEC	blood vessel
15	chr1:94486000-94488400	Enhancers	Ovary	ovary
16	chr1:94486000-94488600	Enhancers	NHDF-Ad	bronchial
17	chr1:94486000-94488800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:94486000-94489000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:94486000-94489400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:94486200-94488400	Enhancers	Gastric	stomach
21	chr1:94486200-94488400	Flanking Active TSS	Hela-S3	cervix
22	chr1:94486200-94489200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:94486200-94489400	Enhancers	HMEC	breast
24	chr1:94486600-94488800	Enhancers	A549	lung
25	chr1:94486800-94488400	Enhancers	Fetal Muscle Leg	muscle
26	chr1:94487200-94488400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr1:94487200-94491400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:94487400-94488800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr1:94487600-94488800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:94487800-94488400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr1:94487800-94488400	Enhancers	HSMMtube	muscle
32	chr1:94487800-94488600	Enhancers	Right Atrium	heart
33	chr1:94487800-94491200	Weak transcription	Fetal Lung	lung
34	chr1:94487800-94491400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr1:94487800-94491800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:94488000-94489600	Weak transcription	HSMM	muscle
37	chr1:94488000-94491600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr1:94488000-94496600	Weak transcription	Lung	lung
39	chr1:94488200-94488400	Enhancers	NHEK	skin
40	chr1:94488200-94489200	Enhancers	HepG2	liver
41	chr1:94488200-94490800	Weak transcription	NHLF	lung
42	chr1:94488200-94491000	Weak transcription	Liver	Liver
43	chr1:94488200-94491800	Weak transcription	Fetal Thymus	thymus
44	chr1:94488200-94492800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:94488200-94505000	Weak transcription	Spleen	Spleen

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