Variant report

Variant	rs528847863
Chromosome Location	chr2:179058140-179058141
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:179058054-179058776	HepG2	liver:	n/a	n/a
2	GATA3	chr2:179058127-179058689	MCF-7	breast:	n/a	n/a
3	GATA3	chr2:179058108-179058756	MCF-7	breast:	n/a	n/a
4	TEAD4	chr2:179057847-179058647	HepG2	liver:	n/a	n/a
5	FOXA1	chr2:179058044-179058751	HepG2	liver:	n/a	n/a
6	MAZ	chr2:179058111-179060371	IMR90	lung:	n/a	chr2:179060029-179060039
7	CREB1	chr2:179058042-179058792	HepG2	liver:	n/a	n/a
8	MAZ	chr2:179058094-179058579	HepG2	liver:	n/a	n/a
9	FOXA1	chr2:179058013-179058703	HepG2	liver:	n/a	n/a
10	MAX	chr2:179058131-179060223	HepG2	liver:	n/a	chr2:179060029-179060039
11	KAP1	chr2:179058123-179059424	U2OS	brain:	n/a	n/a
12	MAX	chr2:179058011-179060369	A549	lung:	n/a	chr2:179060029-179060039
13	FOSL2	chr2:179058099-179058477	A549	lung:	n/a	n/a
14	FOXA2	chr2:179057789-179059308	HepG2	liver:	n/a	n/a
15	NFIC	chr2:179058118-179058657	HepG2	liver:	n/a	n/a
16	CEBPB	chr2:179058137-179058562	HepG2	liver:	n/a	n/a
17	HDAC2	chr2:179058130-179058661	HepG2	liver:	n/a	n/a
18	MBD4	chr2:179058089-179058686	HepG2	liver:	n/a	n/a
19	MYBL2	chr2:179057981-179058706	HepG2	liver:	n/a	n/a
20	FOXA1	chr2:179058091-179058725	HepG2	liver:	n/a	n/a
21	NR2F2	chr2:179057922-179058787	HepG2	liver:	n/a	n/a
22	MXI1	chr2:179057933-179060728	SK-N-SH	brain:	n/a	n/a
23	TCF12	chr2:179058088-179059058	A549	lung:	n/a	chr2:179058593-179058600
24	SIN3AK20	chr2:179058104-179058928	MCF-7	breast:	n/a	n/a
25	CEBPB	chr2:179058072-179059362	Hela-S3	cervix:	n/a	n/a
26	FOXA2	chr2:179058055-179058692	A549	lung:	n/a	n/a
27	EP300	chr2:179058096-179058660	HepG2	liver:	n/a	chr2:179058340-179058347
28	MBD4	chr2:179058086-179058838	HepG2	liver:	n/a	n/a
29	SP1	chr2:179058098-179058664	A549	lung:	n/a	chr2:179058314-179058328
30	FOSL2	chr2:179058133-179058591	HepG2	liver:	n/a	n/a
31	MYBL2	chr2:179058043-179058665	HepG2	liver:	n/a	n/a
32	FOXA1	chr2:179058095-179058873	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:179057756..179060082-chr2:179314891..179318046,3	MCF-7	breast:
2	chr2:178975761..178978600-chr2:179056476..179059620,3	K562	blood:
3	chr2:178978462..178980467-chr2:179057158..179058664,2	MCF-7	breast:
4	chr2:179056933..179060923-chr2:179315358..179318702,4	MCF-7	breast:

No data

Variant related genes	Relation type
OSBPL6	TF binding region
ENSG00000180228	Chromatin interaction
ENSG00000204311	Chromatin interaction
ENSG00000155636	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv875453	chr2:179022751-179060313	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv875454	chr2:179022751-179066443	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3340257	chr2:179057106-179061404	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179056400-179058400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:179057800-179058400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:179058000-179058200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
4	chr2:179058000-179058200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:179058000-179058200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:179058000-179058200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr2:179058000-179058200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:179058000-179058200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:179058000-179058200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:179058000-179058200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:179058000-179058200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:179058000-179058200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:179058000-179058200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:179058000-179058200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:179058000-179058200	Enhancers	Brain Anterior Caudate	brain
16	chr2:179058000-179058200	Enhancers	Brain Cingulate Gyrus	brain
17	chr2:179058000-179058200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr2:179058000-179058200	Enhancers	Brain Substantia Nigra	brain
19	chr2:179058000-179058200	Bivalent Enhancer	Fetal Intestine Large	intestine
20	chr2:179058000-179058200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr2:179058000-179058200	Bivalent Enhancer	Fetal Stomach	stomach
22	chr2:179058000-179058200	Bivalent Enhancer	Small Intestine	intestine
23	chr2:179058000-179058200	Enhancers	Hela-S3	cervix
24	chr2:179058000-179058200	Enhancers	HMEC	breast
25	chr2:179058000-179058200	Enhancers	HSMMtube	muscle
26	chr2:179058000-179058200	Enhancers	NH-A	brain
27	chr2:179058000-179058200	Enhancers	NHDF-Ad	bronchial
28	chr2:179058000-179058200	Enhancers	Osteobl	bone
29	chr2:179058000-179058400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:179058000-179058400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:179058000-179058400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr2:179058000-179058400	Bivalent/Poised TSS	Fetal Lung	lung
33	chr2:179058000-179058400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
34	chr2:179058000-179058400	Flanking Bivalent TSS/Enh	A549	lung
35	chr2:179058000-179058600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
36	chr2:179058000-179058600	Enhancers	Fetal Brain Male	brain
37	chr2:179058000-179058600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr2:179058000-179058600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr2:179058000-179058800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:179058000-179058800	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr2:179058000-179058800	Flanking Active TSS	Liver	Liver
42	chr2:179058000-179058800	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr2:179058000-179058800	Flanking Active TSS	NHEK	skin
44	chr2:179058000-179059000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
45	chr2:179058000-179060800	Active TSS	NHLF	lung
46	chr2:179058000-179061200	Active TSS	Brain Angular Gyrus	brain

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