Variant report

Variant	rs45447491
Chromosome Location	chr2:113937805-113937806
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	POLR2A	chr2:113937624-113938359	GM12878	blood:	n/a	n/a
2	HNF4A	chr2:113937735-113938371	HepG2	liver:	n/a	n/a
3	MYBL2	chr2:113937498-113938579	HepG2	liver:	n/a	n/a
4	MYBL2	chr2:113937603-113938438	HepG2	liver:	n/a	n/a
5	NFIC	chr2:113937663-113938553	HepG2	liver:	n/a	n/a
6	FOSL2	chr2:113937699-113938456	HepG2	liver:	n/a	chr2:113938195-113938206
7	MAX	chr2:113937616-113938608	HepG2	liver:	n/a	chr2:113937676-113937685 chr2:113938358-113938369 chr2:113938360-113938369
8	YY1	chr2:113937664-113938323	HepG2	liver:	n/a	n/a
9	POLR2A	chr2:113937702-113938372	GM12891	blood:	n/a	n/a
10	FOXA1	chr2:113937752-113938438	HepG2	liver:	n/a	n/a
11	MAX	chr2:113937599-113938515	HepG2	liver:	n/a	chr2:113937676-113937685 chr2:113938358-113938369 chr2:113938360-113938369
12	POLR2A	chr2:113935771-113938534	GM12891	blood:	n/a	n/a
13	POLR2A	chr2:113937804-113938423	GM12892	blood:	n/a	n/a
14	POLR2A	chr2:113937632-113938215	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113913253..113915843-chr2:113936341..113937921,2	MCF-7	breast:

Variant related genes	Relation type
PSD4	TF binding region
ENSG00000234174	TF binding region
ENSG00000125637	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11884780	1.00[AMR][1000 genomes]
rs28947180	1.00[AMR][1000 genomes]
rs34338955	1.00[AMR][1000 genomes]
rs35556131	1.00[AMR][1000 genomes]
rs4251992	1.00[AMR][1000 genomes]
rs4252004	1.00[AMR][1000 genomes]
rs4252032	1.00[AMR][1000 genomes]
rs4252034	1.00[AMR][1000 genomes]
rs45490293	1.00[AMR][1000 genomes]
rs58914728	1.00[AMR][1000 genomes]

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	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv582711	chr2:113895516-113984503	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv582712	chr2:113932431-113985170	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv874897	chr2:113935407-113944762	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv874898	chr2:113935407-113954247	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv874899	chr2:113935407-113962071	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113916000-113939000	Weak transcription	Right Atrium	heart
2	chr2:113923000-113951800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:113923000-113956000	Weak transcription	HMEC	breast
4	chr2:113932400-113939400	Weak transcription	Fetal Stomach	stomach
5	chr2:113932400-113939600	Enhancers	Placenta	Placenta
6	chr2:113933000-113938000	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:113933000-113938800	Weak transcription	Adipose Nuclei	Adipose
8	chr2:113934200-113939000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr2:113934200-113949000	Genic enhancers	Primary B cells from peripheral blood	blood
10	chr2:113934200-113956200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:113934400-113939600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr2:113934400-113940000	Genic enhancers	Primary monocytes fromperipheralblood	blood
13	chr2:113934400-113948600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:113934600-113939000	Weak transcription	Colonic Mucosa	Colon
15	chr2:113934600-113939000	Enhancers	Duodenum Mucosa	Duodenum
16	chr2:113934600-113940800	Genic enhancers	Fetal Thymus	thymus
17	chr2:113934600-113941000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:113934600-113946400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:113934800-113938600	Weak transcription	Fetal Lung	lung
20	chr2:113934800-113938800	Weak transcription	Lung	lung
21	chr2:113934800-113939000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:113934800-113939000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:113934800-113939400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:113934800-113939800	Genic enhancers	Thymus	Thymus
25	chr2:113935000-113939000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:113935200-113942800	Genic enhancers	Dnd41	blood
27	chr2:113935400-113938800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr2:113935800-113939800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:113936000-113938800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:113936200-113938200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
31	chr2:113936200-113939800	Enhancers	Primary hematopoietic stem cells	blood
32	chr2:113936400-113938000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:113936400-113938800	Enhancers	K562	blood
34	chr2:113936600-113938000	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr2:113936600-113939000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:113936600-113939000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr2:113936600-113939000	Weak transcription	NHEK	skin
38	chr2:113936800-113939000	Enhancers	Spleen	Spleen
39	chr2:113936800-113940000	Enhancers	Liver	Liver
40	chr2:113936800-113940400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr2:113937000-113938800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr2:113937000-113938800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:113937200-113939000	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr2:113937400-113938200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:113937400-113938400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:113937400-113939000	Enhancers	Fetal Intestine Small	intestine
47	chr2:113937600-113938000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr2:113937600-113938200	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
49	chr2:113937600-113938400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:113937600-113939200	Enhancers	Esophagus	oesophagus

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