Variant report

Variant	rs548923612
Chromosome Location	chr11:17034539-17034540
allele	A/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	RXRA	chr11:17034358-17034884	HepG2	liver:	n/a	n/a
2	USF1	chr11:17034370-17034832	A549	lung:	n/a	n/a
3	HDAC2	chr11:17034320-17035088	MCF-7	breast:	n/a	n/a
4	FOSL2	chr11:17034329-17034890	MCF-7	breast:	n/a	chr11:17034530-17034538 chr11:17034528-17034540 chr11:17034531-17034542
5	NR2F2	chr11:17034254-17035658	MCF-7	breast:	n/a	n/a
6	RAD21	chr11:17034293-17034831	HepG2	liver:	n/a	n/a
7	FOSL2	chr11:17034294-17034878	HepG2	liver:	n/a	chr11:17034530-17034538 chr11:17034528-17034540 chr11:17034531-17034542
8	HNF4A	chr11:17034438-17034816	HepG2	liver:	n/a	n/a
9	ARID3A	chr11:17034308-17034849	HepG2	liver:	n/a	n/a
10	CEBPD	chr11:17034466-17034824	HepG2	liver:	n/a	n/a
11	SIN3AK20	chr11:17034181-17035081	A549	lung:	n/a	n/a
12	FOS	chr11:17034294-17034763	MCF10A-Er-Src	breast:	n/a	chr11:17034528-17034539 chr11:17034530-17034538 chr11:17034528-17034540 chr11:17034531-17034542
13	CEBPB	chr11:17034274-17034688	IMR90	lung:	n/a	chr11:17034449-17034460
14	NR3C1	chr11:17034266-17034891	A549	lung:	n/a	chr11:17034529-17034538 chr11:17034530-17034539
15	EP300	chr11:17034233-17034939	HepG2	liver:	n/a	n/a
16	REST	chr11:17034172-17035254	A549	lung:	n/a	n/a
17	TBP	chr11:17034430-17035004	HepG2	liver:	n/a	n/a
18	SP1	chr11:17034420-17034860	HepG2	liver:	n/a	n/a
19	RXRA	chr11:17034360-17035039	HepG2	liver:	n/a	n/a
20	GABPA	chr11:17034286-17035011	A549	lung:	n/a	n/a
21	FOXA2	chr11:17034226-17035034	A549	lung:	n/a	n/a
22	BCL3	chr11:17034242-17034926	A549	lung:	n/a	n/a
23	EP300	chr11:17034460-17034804	HepG2	liver:	n/a	n/a
24	RCOR1	chr11:17034318-17034946	HepG2	liver:	n/a	n/a
25	FOXA1	chr11:17034323-17035023	HepG2	liver:	n/a	n/a
26	FOSL2	chr11:17034284-17034898	HepG2	liver:	n/a	chr11:17034530-17034538 chr11:17034528-17034540 chr11:17034531-17034542
27	POLR2A	chr11:17034467-17035180	HepG2	liver:	n/a	n/a
28	MYC	chr11:17034530-17034864	HepG2	liver:	n/a	n/a
29	MYBL2	chr11:17034056-17034992	HepG2	liver:	n/a	n/a
30	SP1	chr11:17034067-17035182	A549	lung:	n/a	chr11:17034973-17034987 chr11:17034979-17034993 chr11:17034974-17034983
31	TCF12	chr11:17034332-17034890	A549	lung:	n/a	n/a
32	SIN3A	chr11:17034401-17035824	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr11:17034323-17035634	MCF10A-Er-Src	breast:	n/a	n/a
34	FOXA2	chr11:17034317-17034813	HepG2	liver:	n/a	n/a
35	CEBPB	chr11:17034246-17034919	MCF-7	breast:	n/a	chr11:17034449-17034460
36	NR3C1	chr11:17034127-17034885	A549	lung:	n/a	chr11:17034529-17034538 chr11:17034530-17034539
37	SRF	chr11:17034148-17034806	MCF-7	breast:	n/a	n/a
38	SRF	chr11:17034288-17034570	HepG2	liver:	n/a	n/a
39	RAD21	chr11:17034510-17034802	HepG2	liver:	n/a	n/a
40	FOS	chr11:17034310-17034829	MCF10A-Er-Src	breast:	n/a	chr11:17034528-17034539 chr11:17034530-17034538 chr11:17034528-17034540 chr11:17034531-17034542
41	STAT3	chr11:17034288-17034733	MCF10A-Er-Src	breast:	n/a	chr11:17034489-17034500
42	FOXA1	chr11:17034335-17034904	HepG2	liver:	n/a	n/a
43	ETS1	chr11:17034409-17035090	A549	lung:	n/a	chr11:17034887-17034894
44	ZNF217	chr11:17034427-17034834	MCF-7	breast:	n/a	n/a
45	NR3C1	chr11:17033959-17035385	A549	lung:	n/a	chr11:17034529-17034538 chr11:17035145-17035159 chr11:17034530-17034539 chr11:17035061-17035074 chr11:17035104-17035117
46	MAZ	chr11:17034407-17036438	HepG2	liver:	n/a	chr11:17035013-17035023 chr11:17035489-17035499 chr11:17034979-17034989
47	CEBPB	chr11:17034245-17034871	A549	lung:	n/a	chr11:17034449-17034460
48	CREB1	chr11:17034354-17035789	A549	lung:	n/a	n/a
49	MYBL2	chr11:17034234-17035081	HepG2	liver:	n/a	n/a
50	FOXA1	chr11:17034286-17034875	HepG2	liver:	n/a	n/a

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

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

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv3375438	chr11:17034401-17037549	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:69 , 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	chr11:17033600-17034600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:17033600-17034800	Bivalent/Poised TSS	Fetal Kidney	kidney
12	chr11:17033600-17034800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr11:17033800-17034600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:17033800-17034800	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr11:17033800-17034800	Bivalent/Poised TSS	Fetal Stomach	stomach
16	chr11:17034000-17034600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:17034000-17034600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr11:17034000-17034600	Enhancers	Fetal Heart	heart
19	chr11:17034000-17034600	Active TSS	Fetal Intestine Small	intestine
20	chr11:17034000-17034600	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr11:17034000-17034600	Active TSS	Rectal Smooth Muscle	rectum
22	chr11:17034000-17034600	Flanking Active TSS	HepG2	liver
23	chr11:17034000-17035000	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr11:17034200-17034600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr11:17034200-17034600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:17034200-17034600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:17034200-17034600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
28	chr11:17034200-17034600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
29	chr11:17034200-17034600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:17034200-17034600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:17034200-17034600	Flanking Active TSS	Liver	Liver
32	chr11:17034200-17034600	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr11:17034200-17034600	Enhancers	Placenta	Placenta
34	chr11:17034200-17034600	Enhancers	HSMM	muscle
35	chr11:17034200-17034600	Enhancers	HUVEC	blood vessel
36	chr11:17034200-17034600	Enhancers	NH-A	brain
37	chr11:17034200-17034800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:17034200-17034800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
39	chr11:17034200-17034800	Bivalent Enhancer	NHLF	lung
40	chr11:17034200-17035000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
41	chr11:17034200-17035000	Active TSS	Colonic Mucosa	Colon
42	chr11:17034200-17035000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
43	chr11:17034200-17035400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:17034200-17035400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:17034200-17035400	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr11:17034200-17035600	Active TSS	Stomach Mucosa	stomach
47	chr11:17034200-17035800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
48	chr11:17034200-17036400	Active TSS	Brain Substantia Nigra	brain
49	chr11:17034200-17036800	Active TSS	Brain Anterior Caudate	brain
50	chr11:17034400-17034600	Active TSS	H9 Cell Line	embryonic stem cell

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