Variant report

Variant	rs9683135
Chromosome Location	chr3:112372965-112372966
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	SP1	chr3:112371695-112373412	A549	lung:	n/a	chr3:112372883-112372904 chr3:112373077-112373091
2	BHLHE40	chr3:112372787-112373138	A549	lung:	n/a	n/a
3	EP300	chr3:112371809-112373383	A549	lung:	n/a	chr3:112372992-112373008 chr3:112372423-112372437 chr3:112373304-112373313 chr3:112373164-112373178
4	GATA3	chr3:112372196-112373027	MCF-7	breast:	n/a	chr3:112372931-112372939
5	ETS1	chr3:112372844-112373281	A549	lung:	n/a	n/a
6	RXRA	chr3:112372238-112373385	SK-N-SH	brain:	n/a	n/a
7	NR3C1	chr3:112372765-112373210	A549	lung:	n/a	chr3:112372970-112372984 chr3:112372966-112372987 chr3:112372964-112372990 chr3:112372964-112372990
8	SIN3AK20	chr3:112372801-112373227	A549	lung:	n/a	n/a
9	ATF3	chr3:112371972-112373297	A549	lung:	n/a	n/a
10	EP300	chr3:112372106-112373929	SK-N-SH	brain:	n/a	chr3:112372992-112373008 chr3:112372423-112372437 chr3:112373304-112373313 chr3:112373164-112373178
11	BCL3	chr3:112371923-112373296	A549	lung:	n/a	n/a
12	TCF12	chr3:112372133-112374204	SK-N-SH	brain:	n/a	n/a
13	CEBPB	chr3:112372927-112373127	A549	lung:	n/a	n/a
14	EP300	chr3:112372346-112372996	ECC-1	luminal epithelium:	n/a	chr3:112372423-112372437
15	E2F4	chr3:112372574-112373175	MCF10A-Er-Src	breast:	n/a	chr3:112372894-112372903
16	CREB1	chr3:112372782-112373156	A549	lung:	n/a	n/a
17	JUND	chr3:112372239-112373952	SK-N-SH	brain:	n/a	chr3:112372365-112372374
18	MAX	chr3:112372403-112373251	SK-N-SH	brain:	n/a	n/a
19	FOSL2	chr3:112371751-112373413	A549	lung:	n/a	chr3:112372365-112372374
20	EP300	chr3:112372104-112373481	SK-N-SH	brain:	n/a	chr3:112372992-112373008 chr3:112372423-112372437 chr3:112373304-112373313 chr3:112373164-112373178
21	ZBTB33	chr3:112372304-112373269	SK-N-SH	brain:	n/a	n/a
22	MAX	chr3:112371779-112373349	A549	lung:	n/a	n/a
23	TCF12	chr3:112371646-112373440	A549	lung:	n/a	n/a
24	NFIC	chr3:112372372-112373297	SK-N-SH	brain:	n/a	n/a
25	RAD21	chr3:112372367-112373311	IMR90	lung:	n/a	n/a
26	REST	chr3:112371911-112373274	A549	lung:	n/a	chr3:112373001-112373019 chr3:112373006-112373026
27	TEAD4	chr3:112372178-112373284	SK-N-SH	brain:	n/a	n/a
28	JUND	chr3:112372205-112373728	SK-N-SH	brain:	n/a	chr3:112372365-112372374
29	POLR2A	chr3:112372081-112373383	U87	brain:	n/a	n/a
30	TCF12	chr3:112372119-112373418	SK-N-SH	brain:	n/a	n/a
31	PBX3	chr3:112371989-112373315	A549	lung:	n/a	chr3:112372893-112372902
32	NR3C1	chr3:112372825-112373080	A549	lung:	n/a	chr3:112372970-112372984 chr3:112372966-112372987 chr3:112372964-112372990 chr3:112372964-112372990
33	POLR2A	chr3:112372278-112373282	SK-N-SH	brain:	n/a	n/a
34	SP1	chr3:112371764-112373387	A549	lung:	n/a	chr3:112372883-112372904 chr3:112373077-112373091
35	MAZ	chr3:112371602-112373415	IMR90	lung:	n/a	n/a
36	NFIC	chr3:112372137-112373467	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr3:112372840-112373209	U87	brain:	n/a	n/a
38	RAD21	chr3:112371842-112373469	A549	lung:	n/a	n/a
39	FOSL2	chr3:112372808-112373258	SK-N-SH	brain:	n/a	n/a
40	NR3C1	chr3:112372094-112373163	A549	lung:	n/a	chr3:112372970-112372984 chr3:112372679-112372705 chr3:112372966-112372987 chr3:112372964-112372990 chr3:112372679-112372705 chr3:112372964-112372990
41	FOSL2	chr3:112372010-112373283	A549	lung:	n/a	chr3:112372365-112372374
42	POLR2A	chr3:112372871-112373033	A549	lung:	n/a	n/a
43	GATA3	chr3:112372005-112373875	SK-N-SH	brain:	n/a	chr3:112372931-112372939
44	FOS	chr3:112372414-112373252	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr3:112372275-112373306	MCF10A-Er-Src	breast:	n/a	chr3:112372365-112372374
46	FOXA2	chr3:112372818-112373127	A549	lung:	n/a	n/a
47	NR3C1	chr3:112372013-112373138	A549	lung:	n/a	chr3:112372970-112372984 chr3:112372679-112372705 chr3:112372966-112372987 chr3:112372964-112372990 chr3:112372679-112372705 chr3:112372964-112372990
48	ATF3	chr3:112371968-112373312	A549	lung:	n/a	n/a
49	TCF12	chr3:112371927-112373261	A549	lung:	n/a	n/a
50	FOXA2	chr3:112371988-112373252	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:112358658..112361314-chr3:112370699..112373290,3	MCF-7	breast:
2	chr3:112363786..112368966-chr3:112369502..112375118,11	MCF-7	breast:
3	chr3:112362097..112368318-chr3:112369170..112375638,8	MCF-7	breast:

Variant related genes	Relation type
CCDC80	TF binding region
ENSG00000091986	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2279531	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6438086	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6438087	0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6768072	0.80[CEU][hapmap]
rs6794305	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6807798	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7611898	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9815819	0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9821338	0.89[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][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	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112363400-112373600	Weak transcription	Esophagus	oesophagus
2	chr3:112366400-112373800	Weak transcription	Colon Smooth Muscle	Colon
3	chr3:112367000-112373800	Enhancers	HSMM	muscle
4	chr3:112368000-112375000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:112368200-112375200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:112368600-112373600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:112371400-112375200	Enhancers	HMEC	breast
8	chr3:112371600-112374000	Flanking Active TSS	A549	lung
9	chr3:112371800-112373000	Enhancers	Adipose Nuclei	Adipose
10	chr3:112371800-112373400	Enhancers	NHLF	lung
11	chr3:112371800-112373600	Enhancers	NH-A	brain
12	chr3:112371800-112374000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:112371800-112374000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:112371800-112374000	Enhancers	Placenta	Placenta
15	chr3:112371800-112375000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:112372000-112375000	Enhancers	Fetal Lung	lung
17	chr3:112372200-112373200	Flanking Active TSS	NHEK	skin
18	chr3:112372200-112373400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr3:112372400-112373000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:112372400-112373000	Enhancers	Stomach Smooth Muscle	stomach
21	chr3:112372400-112373200	Enhancers	Fetal Stomach	stomach
22	chr3:112372400-112373800	Enhancers	Fetal Muscle Leg	muscle
23	chr3:112372400-112374000	Enhancers	Ovary	ovary
24	chr3:112372400-112380600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr3:112372600-112373000	Flanking Active TSS	HSMMtube	muscle
26	chr3:112372600-112373000	Weak transcription	NHDF-Ad	bronchial
27	chr3:112372600-112373400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr3:112372600-112374000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr3:112372800-112373000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:112372800-112373200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:112372800-112373200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr3:112372800-112373200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr3:112372800-112373400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:112372800-112374000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:112372800-112374000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:112372800-112374000	Flanking Active TSS	Osteobl	bone

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