Variant report

Variant	rs9804114
Chromosome Location	chr1:209542295-209542296
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	GATA3	chr1:209542132-209543190	SK-N-SH	brain:	n/a	n/a
2	PBX3	chr1:209542276-209543175	SK-N-SH	brain:	n/a	chr1:209542978-209542987
3	JUND	chr1:209542133-209543075	SK-N-SH	brain:	n/a	chr1:209542184-209542194 chr1:209542185-209542193 chr1:209542184-209542194 chr1:209542181-209542192 chr1:209542671-209542680 chr1:209543000-209543009 chr1:209542184-209542194 chr1:209542184-209542194 chr1:209542672-209542681 chr1:209542675-209542683
4	NFIC	chr1:209542174-209543308	SK-N-SH	brain:	n/a	n/a
5	FOS	chr1:209542241-209542983	MCF10A-Er-Src	breast:	n/a	chr1:209542671-209542680 chr1:209542672-209542681 chr1:209542675-209542683
6	POLR2A	chr1:209542235-209543013	SK-N-SH	brain:	n/a	n/a
7	TEAD4	chr1:209542278-209543084	SK-N-SH	brain:	n/a	n/a
8	JUND	chr1:209542213-209543095	SK-N-SH	brain:	n/a	chr1:209542671-209542680 chr1:209543000-209543009 chr1:209542672-209542681 chr1:209542675-209542683
9	MYC	chr1:209542209-209543044	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr1:209542209-209543090	MCF10A-Er-Src	breast:	n/a	chr1:209542671-209542680 chr1:209543000-209543009 chr1:209542672-209542681 chr1:209542675-209542683
11	FOXM1	chr1:209542107-209543145	SK-N-SH	brain:	n/a	n/a
12	STAT3	chr1:209542281-209543095	MCF10A-Er-Src	breast:	n/a	chr1:209542750-209542762 chr1:209542745-209542757
13	POLR2A	chr1:209542259-209543016	U87	brain:	n/a	n/a
14	FOSL2	chr1:209542152-209543027	SK-N-SH	brain:	n/a	chr1:209542184-209542194 chr1:209542185-209542193 chr1:209542184-209542194 chr1:209542181-209542192 chr1:209542671-209542680 chr1:209543000-209543009 chr1:209542184-209542194 chr1:209542184-209542194 chr1:209542672-209542681 chr1:209542675-209542683
15	FOXM1	chr1:209542270-209543049	SK-N-SH	brain:	n/a	n/a
16	TCF12	chr1:209542135-209543087	SK-N-SH	brain:	n/a	n/a
17	JUND	chr1:209542037-209543239	SK-N-SH	brain:	n/a	chr1:209542184-209542194 chr1:209542185-209542193 chr1:209542184-209542194 chr1:209542181-209542192 chr1:209542671-209542680 chr1:209543000-209543009 chr1:209542184-209542194 chr1:209542184-209542194 chr1:209542672-209542681 chr1:209542675-209542683
18	PBX3	chr1:209542211-209543177	SK-N-SH	brain:	n/a	chr1:209542978-209542987
19	RXRA	chr1:209542270-209543101	SK-N-SH	brain:	n/a	chr1:209542833-209542842
20	EP300	chr1:209542072-209543196	SK-N-SH	brain:	n/a	chr1:209543053-209543067 chr1:209543057-209543071 chr1:209543051-209543065 chr1:209543052-209543066 chr1:209543059-209543073
21	TCF12	chr1:209542035-209543208	SK-N-SH	brain:	n/a	n/a
22	EP300	chr1:209542112-209543221	SK-N-SH	brain:	n/a	chr1:209543053-209543067 chr1:209543057-209543071 chr1:209543051-209543065 chr1:209543052-209543066 chr1:209543059-209543073
23	FOS	chr1:209542198-209543007	MCF10A-Er-Src	breast:	n/a	chr1:209542671-209542680 chr1:209542672-209542681 chr1:209542675-209542683
24	GATA3	chr1:209541337-209543157	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:209532175..209545038-chr1:209598052..209610156,35	MCF-7	breast:
2	chr1:209541024..209542920-chr1:209555785..209557291,2	MCF-7	breast:
3	chr1:209399241..209400998-chr1:209541638..209543398,2	MCF-7	breast:
4	chr1:209535501..209537810-chr1:209541839..209543791,2	K562	blood:
5	chr1:209527253..209544360-chr1:209599669..209610889,45	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231648	TF binding region
ENSG00000230937	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12119464	1.00[YRI][hapmap]
rs12137788	1.00[YRI][hapmap]
rs13375195	1.00[YRI][hapmap]
rs17014365	1.00[YRI][hapmap]

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	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3496690	chr1:209541075-209543370	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3496691	chr1:209541075-209543370	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209526400-209545600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:209529800-209547000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:209535400-209543800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:209535800-209550800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:209536000-209545200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:209536000-209545600	Enhancers	HMEC	breast
7	chr1:209536800-209548600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:209537600-209548600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:209538000-209543200	Weak transcription	Fetal Thymus	thymus
10	chr1:209538000-209547200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:209539800-209543200	Enhancers	NH-A	brain
12	chr1:209539800-209545600	Enhancers	Fetal Brain Male	brain
13	chr1:209540000-209542400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:209540000-209542400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:209540000-209542800	Enhancers	Placenta Amnion	Placenta Amnion
16	chr1:209540000-209542800	Enhancers	HSMM	muscle
17	chr1:209540200-209542400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:209540200-209543000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:209540200-209543200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:209540200-209543400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:209540200-209544600	Enhancers	Fetal Brain Female	brain
22	chr1:209540400-209543000	Enhancers	Fetal Muscle Leg	muscle
23	chr1:209540400-209549200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr1:209540600-209546200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:209540800-209542400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:209540800-209542400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr1:209541200-209548600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:209541600-209542400	Enhancers	Hela-S3	cervix
29	chr1:209541800-209543200	Enhancers	NHLF	lung
30	chr1:209542000-209543000	Enhancers	NHDF-Ad	bronchial
31	chr1:209542200-209542400	Enhancers	Esophagus	oesophagus
32	chr1:209542200-209542600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr1:209542200-209542600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:209542200-209542600	Enhancers	Fetal Lung	lung
35	chr1:209542200-209542600	Enhancers	Rectal Smooth Muscle	rectum
36	chr1:209542200-209542600	Enhancers	A549	lung
37	chr1:209542200-209542600	Enhancers	HSMMtube	muscle
38	chr1:209542200-209543000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:209542200-209543000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr1:209542200-209543000	Enhancers	Colon Smooth Muscle	Colon
41	chr1:209542200-209543000	Flanking Active TSS	NHEK	skin
42	chr1:209542200-209543000	Flanking Active TSS	Osteobl	bone
43	chr1:209542200-209543200	Enhancers	Fetal Stomach	stomach

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