Variant report

Variant	rs9783287
Chromosome Location	chr11:17034343-17034344
allele	C/T
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	HDAC2	chr11:17034320-17035088	MCF-7	breast:	n/a	n/a
2	FOSL2	chr11:17034329-17034890	MCF-7	breast:	n/a	chr11:17034530-17034538 chr11:17034528-17034540 chr11:17034531-17034542
3	NR2F2	chr11:17034254-17035658	MCF-7	breast:	n/a	n/a
4	RAD21	chr11:17034293-17034831	HepG2	liver:	n/a	n/a
5	FOSL2	chr11:17034294-17034878	HepG2	liver:	n/a	chr11:17034530-17034538 chr11:17034528-17034540 chr11:17034531-17034542
6	CEBPB	chr11:17034340-17034519	Hela-S3	cervix:	n/a	chr11:17034449-17034460
7	ARID3A	chr11:17034308-17034849	HepG2	liver:	n/a	n/a
8	SIN3AK20	chr11:17034181-17035081	A549	lung:	n/a	n/a
9	FOS	chr11:17034294-17034763	MCF10A-Er-Src	breast:	n/a	chr11:17034528-17034539 chr11:17034530-17034538 chr11:17034528-17034540 chr11:17034531-17034542
10	CEBPB	chr11:17034274-17034688	IMR90	lung:	n/a	chr11:17034449-17034460
11	NR3C1	chr11:17034266-17034891	A549	lung:	n/a	chr11:17034529-17034538 chr11:17034530-17034539
12	EP300	chr11:17034233-17034939	HepG2	liver:	n/a	n/a
13	REST	chr11:17034172-17035254	A549	lung:	n/a	n/a
14	GABPA	chr11:17034286-17035011	A549	lung:	n/a	n/a
15	FOXA2	chr11:17034226-17035034	A549	lung:	n/a	n/a
16	BCL3	chr11:17034242-17034926	A549	lung:	n/a	n/a
17	RCOR1	chr11:17034318-17034946	HepG2	liver:	n/a	n/a
18	FOXA1	chr11:17034323-17035023	HepG2	liver:	n/a	n/a
19	FOSL2	chr11:17034284-17034898	HepG2	liver:	n/a	chr11:17034530-17034538 chr11:17034528-17034540 chr11:17034531-17034542
20	MYBL2	chr11:17034056-17034992	HepG2	liver:	n/a	n/a
21	SP1	chr11:17034067-17035182	A549	lung:	n/a	chr11:17034973-17034987 chr11:17034979-17034993 chr11:17034974-17034983
22	TCF12	chr11:17034332-17034890	A549	lung:	n/a	n/a
23	POLR2A	chr11:17034323-17035634	MCF10A-Er-Src	breast:	n/a	n/a
24	FOXA2	chr11:17034317-17034813	HepG2	liver:	n/a	n/a
25	CEBPB	chr11:17034246-17034919	MCF-7	breast:	n/a	chr11:17034449-17034460
26	NR3C1	chr11:17034127-17034885	A549	lung:	n/a	chr11:17034529-17034538 chr11:17034530-17034539
27	SRF	chr11:17034148-17034806	MCF-7	breast:	n/a	n/a
28	SRF	chr11:17034288-17034570	HepG2	liver:	n/a	n/a
29	FOS	chr11:17034310-17034829	MCF10A-Er-Src	breast:	n/a	chr11:17034528-17034539 chr11:17034530-17034538 chr11:17034528-17034540 chr11:17034531-17034542
30	STAT3	chr11:17034288-17034733	MCF10A-Er-Src	breast:	n/a	chr11:17034489-17034500
31	FOXA1	chr11:17034335-17034904	HepG2	liver:	n/a	n/a
32	NR3C1	chr11:17033959-17035385	A549	lung:	n/a	chr11:17034529-17034538 chr11:17035145-17035159 chr11:17034530-17034539 chr11:17035061-17035074 chr11:17035104-17035117
33	CEBPB	chr11:17034245-17034871	A549	lung:	n/a	chr11:17034449-17034460
34	MYBL2	chr11:17034234-17035081	HepG2	liver:	n/a	n/a
35	FOXA1	chr11:17034286-17034875	HepG2	liver:	n/a	n/a
36	CEBPB	chr11:17034193-17034816	A549	lung:	n/a	chr11:17034449-17034460
37	SP1	chr11:17034068-17035238	A549	lung:	n/a	chr11:17034973-17034987 chr11:17034979-17034993 chr11:17034974-17034983
38	FOS	chr11:17034282-17034805	MCF10A-Er-Src	breast:	n/a	chr11:17034528-17034539 chr11:17034530-17034538 chr11:17034528-17034540 chr11:17034531-17034542
39	POLR2A	chr11:17034255-17034415	HepG2	liver:	n/a	n/a
40	USF1	chr11:17034291-17034882	A549	lung:	n/a	n/a
41	SRF	chr11:17034099-17034897	MCF-7	breast:	n/a	n/a
42	CEBPB	chr11:17034071-17034889	MCF-7	breast:	n/a	chr11:17034449-17034460
43	EP300	chr11:17034215-17035362	A549	lung:	n/a	n/a
44	BCL3	chr11:17034009-17034854	A549	lung:	n/a	n/a
45	MAX	chr11:17034314-17035710	HepG2	liver:	n/a	chr11:17035013-17035023 chr11:17035489-17035499 chr11:17034979-17034989
46	FOSL2	chr11:17034284-17034834	A549	lung:	n/a	chr11:17034530-17034538 chr11:17034528-17034540 chr11:17034531-17034542
47	STAT3	chr11:17034281-17034836	MCF10A-Er-Src	breast:	n/a	chr11:17034489-17034500
48	FOSL2	chr11:17033803-17035229	A549	lung:	n/a	chr11:17034530-17034538 chr11:17034528-17034540 chr11:17034531-17034542
49	NR3C1	chr11:17034127-17035370	A549	lung:	n/a	chr11:17034529-17034538 chr11:17035145-17035159 chr11:17034530-17034539 chr11:17035061-17035074 chr11:17035104-17035117
50	NR3C1	chr11:17034168-17035693	A549	lung:	n/a	chr11:17035471-17035484 chr11:17034529-17034538 chr11:17035145-17035159 chr11:17034530-17034539 chr11:17035061-17035074 chr11:17035104-17035117

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17031613..17034437-chr11:17043596..17045738,2	MCF-7	breast:
2	chr11:16995340..16999228-chr11:17033547..17036418,3	MCF-7	breast:

Variant related genes	Relation type
OR7E14P	TF binding region
ENSG00000266493	TF binding region
ENSG00000251928	Chromatin interaction
ENSG00000244398	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs34207405	0.81[AMR][1000 genomes]
rs55749020	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55903519	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56410179	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57165913	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7103326	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7116064	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71484745	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7950504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv825771	chr11:17027229-17048360	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17016400-17034600	Weak transcription	Aorta	Aorta
2	chr11:17019400-17034800	Weak transcription	Lung	lung
3	chr11:17019800-17034600	Weak transcription	Right Ventricle	heart
4	chr11:17021200-17034600	Weak transcription	Right Atrium	heart
5	chr11:17022000-17034600	Weak transcription	Brain Angular Gyrus	brain
6	chr11:17030800-17034600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:17033000-17034600	Weak transcription	Gastric	stomach
8	chr11:17033200-17034600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:17033400-17034600	Flanking Active TSS	A549	lung
10	chr11:17033600-17034400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
11	chr11:17033600-17034400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr11:17033600-17034600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:17033600-17034800	Bivalent/Poised TSS	Fetal Kidney	kidney
14	chr11:17033600-17034800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr11:17033800-17034400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
16	chr11:17033800-17034600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:17033800-17034800	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr11:17033800-17034800	Bivalent/Poised TSS	Fetal Stomach	stomach
19	chr11:17034000-17034400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
20	chr11:17034000-17034400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:17034000-17034600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:17034000-17034600	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr11:17034000-17034600	Enhancers	Fetal Heart	heart
24	chr11:17034000-17034600	Active TSS	Fetal Intestine Small	intestine
25	chr11:17034000-17034600	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr11:17034000-17034600	Active TSS	Rectal Smooth Muscle	rectum
27	chr11:17034000-17034600	Flanking Active TSS	HepG2	liver
28	chr11:17034000-17035000	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr11:17034200-17034400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:17034200-17034400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:17034200-17034400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:17034200-17034400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr11:17034200-17034400	Active TSS	Brain Germinal Matrix	brain
34	chr11:17034200-17034400	Flanking Active TSS	Esophagus	oesophagus
35	chr11:17034200-17034400	Flanking Active TSS	Fetal Intestine Large	intestine
36	chr11:17034200-17034400	Flanking Active TSS	Pancreas	Pancrea
37	chr11:17034200-17034400	Flanking Active TSS	Osteobl	bone
38	chr11:17034200-17034600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr11:17034200-17034600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:17034200-17034600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:17034200-17034600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
42	chr11:17034200-17034600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
43	chr11:17034200-17034600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:17034200-17034600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:17034200-17034600	Flanking Active TSS	Liver	Liver
46	chr11:17034200-17034600	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr11:17034200-17034600	Enhancers	Placenta	Placenta
48	chr11:17034200-17034600	Enhancers	HSMM	muscle
49	chr11:17034200-17034600	Enhancers	HUVEC	blood vessel
50	chr11:17034200-17034600	Enhancers	NH-A	brain

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