Variant report

Variant	rs12440308
Chromosome Location	chr15:40397723-40397724
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40321938..40324558-chr15:40397349..40402797,4	MCF-7	breast:
2	chr15:40396612..40398136-chr15:40423980..40425844,2	K562	blood:
3	chr15:40329348..40332922-chr15:40394377..40398986,5	MCF-7	breast:
4	chr15:40395905..40397944-chr15:40452916..40455241,3	MCF-7	breast:
5	chr15:40330945..40332578-chr15:40397344..40399517,2	K562	blood:
6	chr15:40379547..40381782-chr15:40396111..40398110,2	K562	blood:

Variant related genes	Relation type
ENSG00000140319	Chromatin interaction
ENSG00000248508	Chromatin interaction
ENSG00000128829	Chromatin interaction
ENSG00000259409	Chromatin interaction
ENSG00000156970	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv428635	chr15:40274500-40436293	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv3352587	chr15:40397591-40397934	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40387200-40397800	Enhancers	Fetal Muscle Leg	muscle
2	chr15:40389200-40400000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr15:40389800-40400400	Enhancers	Small Intestine	intestine
4	chr15:40390400-40399800	Transcr. at gene 5' and 3'	Thymus	Thymus
5	chr15:40391000-40399800	Enhancers	Liver	Liver
6	chr15:40391200-40398800	Enhancers	Placenta	Placenta
7	chr15:40391400-40400000	Enhancers	Stomach Mucosa	stomach
8	chr15:40392000-40400000	Enhancers	Right Atrium	heart
9	chr15:40392000-40400000	Enhancers	Right Ventricle	heart
10	chr15:40392000-40400400	Enhancers	Pancreas	Pancrea
11	chr15:40392200-40400200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr15:40392400-40398400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr15:40392600-40398600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:40392800-40397800	Enhancers	Lung	lung
15	chr15:40393800-40399200	Enhancers	Ovary	ovary
16	chr15:40393800-40400200	Enhancers	Esophagus	oesophagus
17	chr15:40394000-40400200	Enhancers	Left Ventricle	heart
18	chr15:40394200-40398400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr15:40394200-40398800	Enhancers	Gastric	stomach
20	chr15:40394200-40400000	Enhancers	Fetal Intestine Large	intestine
21	chr15:40394200-40400000	Enhancers	Fetal Muscle Trunk	muscle
22	chr15:40394400-40399400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr15:40394600-40398000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:40394800-40398000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr15:40394800-40398200	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr15:40394800-40398400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr15:40394800-40400000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr15:40394800-40400200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr15:40395000-40400200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr15:40395200-40398200	Flanking Active TSS	Rectal Smooth Muscle	rectum
31	chr15:40395200-40399600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr15:40395200-40400200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr15:40395200-40400200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:40395400-40398800	Enhancers	Fetal Brain Male	brain
35	chr15:40395400-40400400	Flanking Active TSS	GM12878-XiMat	blood
36	chr15:40395600-40398200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr15:40395600-40399400	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr15:40395600-40399800	Enhancers	Fetal Heart	heart
39	chr15:40395800-40398200	Enhancers	HMEC	breast
40	chr15:40395800-40398400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr15:40395800-40399800	Enhancers	H1 Cell Line	embryonic stem cell
42	chr15:40395800-40400000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr15:40395800-40400200	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr15:40396000-40397800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr15:40396000-40397800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr15:40396000-40398000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr15:40396000-40399600	Enhancers	HSMM	muscle
48	chr15:40396200-40397800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr15:40396200-40398800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr15:40396200-40398800	Enhancers	HUES64 Cell Line	embryonic stem cell

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