Variant report

Variant	rs2160043
Chromosome Location	chr4:15499251-15499252
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	RUNX3	chr4:15499215-15499435	GM12878	blood:	n/a	n/a
2	NFYB	chr4:15499208-15499442	GM12878	blood:	n/a	n/a
3	EP300	chr4:15499237-15500695	SK-N-SH	brain:	n/a	chr4:15500298-15500312 chr4:15499747-15499761 chr4:15499571-15499585

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:15497693..15500487-chr4:15654286..15657058,2	MCF-7	breast:
2	chr4:15493173..15496394-chr4:15497491..15500995,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249930	TF binding region
ENSG00000118564	Chromatin interaction
ENSG00000249930	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1048037	0.84[JPT][hapmap]
rs6449142	0.96[YRI][hapmap];0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15481600-15519000	Weak transcription	Gastric	stomach
2	chr4:15482200-15519800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:15482600-15516600	Weak transcription	Brain Angular Gyrus	brain
4	chr4:15482600-15526400	Weak transcription	HMEC	breast
5	chr4:15482800-15518200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:15485000-15504800	Weak transcription	Ovary	ovary
7	chr4:15486600-15499800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:15487400-15570400	Weak transcription	Psoas Muscle	Psoas
9	chr4:15490400-15519400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:15490400-15539600	Weak transcription	Esophagus	oesophagus
11	chr4:15490600-15502400	Weak transcription	Lung	lung
12	chr4:15490600-15505000	Weak transcription	Adipose Nuclei	Adipose
13	chr4:15490600-15505200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr4:15490600-15510600	Weak transcription	Aorta	Aorta
15	chr4:15490600-15519000	Weak transcription	A549	lung
16	chr4:15490800-15504600	Weak transcription	Fetal Kidney	kidney
17	chr4:15491000-15504400	Weak transcription	Fetal Intestine Large	intestine
18	chr4:15491200-15504800	Weak transcription	Osteobl	bone
19	chr4:15491600-15502400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:15491600-15504400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr4:15491600-15511400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:15491800-15516400	Weak transcription	NHLF	lung
23	chr4:15492200-15503600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:15492200-15511000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr4:15492400-15505000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:15492400-15505200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:15493400-15504400	Weak transcription	Fetal Intestine Small	intestine
28	chr4:15493400-15504800	Weak transcription	Left Ventricle	heart
29	chr4:15495600-15559400	Weak transcription	HSMMtube	muscle
30	chr4:15496000-15512800	Weak transcription	Colon Smooth Muscle	Colon
31	chr4:15496200-15501000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:15496200-15502400	Weak transcription	Fetal Stomach	stomach
33	chr4:15498200-15538400	Weak transcription	Fetal Heart	heart
34	chr4:15498800-15501400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr4:15499000-15500000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr4:15499000-15502800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr4:15499000-15502800	Weak transcription	Fetal Lung	lung
38	chr4:15499000-15503000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr4:15499000-15504400	Weak transcription	Fetal Muscle Leg	muscle
40	chr4:15499000-15508200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:15499000-15512800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr4:15499000-15518200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr4:15499200-15501400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:15499200-15502200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:15499200-15504200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:15499200-15504200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr4:15499200-15512200	Weak transcription	Brain Anterior Caudate	brain
48	chr4:15499200-15515800	Weak transcription	Liver	Liver

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