Variant report

Variant	rs17110858
Chromosome Location	chr1:94486355-94486356
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	chr1:94486260-94486781	HUVEC	blood vessel:	n/a	n/a
2	TEAD4	chr1:94486353-94487364	ECC-1	luminal epithelium:	n/a	n/a
3	MAX	chr1:94486128-94487125	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:94486063-94486950	HUVEC	blood vessel:	n/a	n/a
5	USF2	chr1:94486287-94487107	Hela-S3	cervix:	n/a	n/a
6	MAFK	chr1:94486282-94487174	Hela-S3	cervix:	n/a	chr1:94486697-94486713 chr1:94486701-94486712
7	TFAP2C	chr1:94486347-94487107	Hela-S3	cervix:	n/a	n/a
8	STAT3	chr1:94486309-94486605	MCF10A-Er-Src	breast:	n/a	chr1:94486419-94486427 chr1:94486421-94486430 chr1:94486422-94486431 chr1:94486419-94486433
9	EP300	chr1:94486345-94487206	Hela-S3	cervix:	n/a	chr1:94487126-94487140
10	MAX	chr1:94486212-94487135	Hela-S3	cervix:	n/a	n/a
11	GATA2	chr1:94486228-94486776	HUVEC	blood vessel:	n/a	n/a
12	RCOR1	chr1:94486337-94487206	Hela-S3	cervix:	n/a	n/a
13	SMC3	chr1:94486343-94487136	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr1:94486200-94486797	IMR90	lung:	n/a	n/a
15	STAT3	chr1:94486309-94487298	Hela-S3	cervix:	n/a	chr1:94486419-94486427 chr1:94486421-94486430 chr1:94486422-94486431 chr1:94486419-94486433
16	MYC	chr1:94486327-94487130	Hela-S3	cervix:	n/a	n/a
17	ZNF143	chr1:94486194-94487073	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr1:94486222-94487166	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:94475934..94477619-chr1:94484327..94486550,2	K562	blood:
2	chr1:94471999..94474175-chr1:94483788..94486677,2	MCF-7	breast:
3	chr1:94478608..94480498-chr1:94484594..94486437,2	MCF-7	breast:

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

Extended variants
information (count: 2 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs914958	1.00[CHD][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap]

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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17110858	DR1	cis	cerebellum	SCAN
rs17110858	GEMIN8P4	cis	cerebellum	SCAN

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94479800-94489200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:94481400-94486800	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:94483400-94486400	Weak transcription	NHEK	skin
4	chr1:94483800-94492400	Weak transcription	Left Ventricle	heart
5	chr1:94484600-94487600	Enhancers	Primary T cells fromperipheralblood	blood
6	chr1:94484800-94488400	Enhancers	Placenta	Placenta
7	chr1:94484800-94488600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:94484800-94488600	Enhancers	Fetal Intestine Large	intestine
9	chr1:94484800-94488800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:94485400-94486400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:94485400-94486600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:94485400-94486600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:94485400-94486800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:94485600-94486600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:94485600-94488800	Enhancers	NH-A	brain
16	chr1:94485600-94489000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:94485600-94489000	Enhancers	Osteobl	bone
18	chr1:94485600-94489600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:94485800-94486600	Bivalent Enhancer	HepG2	liver
20	chr1:94485800-94487200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr1:94485800-94487200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:94485800-94487200	Enhancers	Stomach Mucosa	stomach
23	chr1:94485800-94487600	Enhancers	Fetal Stomach	stomach
24	chr1:94485800-94488200	Enhancers	NHLF	lung
25	chr1:94485800-94488600	Enhancers	Fetal Intestine Small	intestine
26	chr1:94485800-94489000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:94485800-94489400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:94485800-94490000	Enhancers	HUVEC	blood vessel
29	chr1:94486000-94486800	Enhancers	Adipose Nuclei	Adipose
30	chr1:94486000-94487000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr1:94486000-94487000	Enhancers	Right Atrium	heart
32	chr1:94486000-94487200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:94486000-94487400	Enhancers	HSMM	muscle
34	chr1:94486000-94487800	Enhancers	Fetal Lung	lung
35	chr1:94486000-94488400	Enhancers	Ovary	ovary
36	chr1:94486000-94488600	Enhancers	NHDF-Ad	bronchial
37	chr1:94486000-94488800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr1:94486000-94489000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:94486000-94489400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:94486200-94486400	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr1:94486200-94486400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr1:94486200-94487000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:94486200-94487000	Enhancers	Fetal Heart	heart
44	chr1:94486200-94487000	Enhancers	Lung	lung
45	chr1:94486200-94487200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:94486200-94487200	Enhancers	Placenta Amnion	Placenta Amnion
47	chr1:94486200-94487200	Enhancers	HSMMtube	muscle
48	chr1:94486200-94488400	Enhancers	Gastric	stomach
49	chr1:94486200-94488400	Flanking Active TSS	Hela-S3	cervix
50	chr1:94486200-94489200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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