Variant report

Variant	rs12148376
Chromosome Location	chr15:40397094-40397095
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:40396774..40397601-chr15:40453279..40454245,2	K562	blood:
2	chr15:40376791..40380091-chr15:40393802..40397569,3	MCF-7	breast:
3	chr15:40343717..40348357-chr15:40394391..40397717,7	MCF-7	breast:
4	chr15:40397083..40397632-chr15:40429201..40430196,2	MCF-7	breast:
5	chr15:40395137..40397237-chr15:40456006..40457830,2	K562	blood:
6	chr15:40396612..40398136-chr15:40423980..40425844,2	K562	blood:
7	chr15:40329348..40332922-chr15:40394377..40398986,5	MCF-7	breast:
8	chr15:40384212..40385136-chr15:40396961..40397643,2	K562	blood:
9	chr15:40395905..40397944-chr15:40452916..40455241,3	MCF-7	breast:
10	chr15:40394940..40397179-chr15:40397500..40400223,3	K562	blood:
11	chr15:40379547..40381782-chr15:40396111..40398110,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000104081	Chromatin interaction
ENSG00000140319	Chromatin interaction
ENSG00000259409	Chromatin interaction
ENSG00000248508	Chromatin interaction
ENSG00000156970	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11858141	0.87[ASN][1000 genomes]
rs16970385	0.89[ASN][1000 genomes]
rs16970391	0.89[ASN][1000 genomes]
rs2934776	0.89[ASN][1000 genomes]
rs534838	0.89[ASN][1000 genomes]
rs57543880	0.89[ASN][1000 genomes]
rs58902242	0.89[ASN][1000 genomes]
rs58995872	0.89[ASN][1000 genomes]
rs59793325	0.89[ASN][1000 genomes]
rs61436050	0.89[ASN][1000 genomes]
rs631665	0.89[ASN][1000 genomes]
rs796389	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:127 , 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	chr15:40387600-40397200	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr15:40389200-40400000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr15:40389800-40400400	Enhancers	Small Intestine	intestine
5	chr15:40390400-40399800	Transcr. at gene 5' and 3'	Thymus	Thymus
6	chr15:40391000-40399800	Enhancers	Liver	Liver
7	chr15:40391200-40398800	Enhancers	Placenta	Placenta
8	chr15:40391400-40397600	Enhancers	NH-A	brain
9	chr15:40391400-40400000	Enhancers	Stomach Mucosa	stomach
10	chr15:40392000-40400000	Enhancers	Right Atrium	heart
11	chr15:40392000-40400000	Enhancers	Right Ventricle	heart
12	chr15:40392000-40400400	Enhancers	Pancreas	Pancrea
13	chr15:40392200-40400200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr15:40392400-40397200	Genic enhancers	Primary B cells from peripheral blood	blood
15	chr15:40392400-40397600	Enhancers	Psoas Muscle	Psoas
16	chr15:40392400-40398400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:40392600-40398600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:40392800-40397800	Enhancers	Lung	lung
19	chr15:40393800-40399200	Enhancers	Ovary	ovary
20	chr15:40393800-40400200	Enhancers	Esophagus	oesophagus
21	chr15:40394000-40397600	Enhancers	Brain Angular Gyrus	brain
22	chr15:40394000-40400200	Enhancers	Left Ventricle	heart
23	chr15:40394200-40397200	Genic enhancers	Primary monocytes fromperipheralblood	blood
24	chr15:40394200-40397400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr15:40394200-40398400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr15:40394200-40398800	Enhancers	Gastric	stomach
27	chr15:40394200-40400000	Enhancers	Fetal Intestine Large	intestine
28	chr15:40394200-40400000	Enhancers	Fetal Muscle Trunk	muscle
29	chr15:40394400-40399400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr15:40394600-40397600	Enhancers	Aorta	Aorta
31	chr15:40394600-40398000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr15:40394800-40397200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr15:40394800-40397200	Enhancers	K562	blood
34	chr15:40394800-40397400	Enhancers	HUVEC	blood vessel
35	chr15:40394800-40397600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
36	chr15:40394800-40397600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr15:40394800-40398000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr15:40394800-40398200	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr15:40394800-40398400	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr15:40394800-40400000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr15:40394800-40400200	Enhancers	Placenta Amnion	Placenta Amnion
42	chr15:40395000-40397600	Flanking Active TSS	NHEK	skin
43	chr15:40395000-40400200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr15:40395200-40397600	Enhancers	Fetal Stomach	stomach
45	chr15:40395200-40398200	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr15:40395200-40399600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr15:40395200-40400200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr15:40395200-40400200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:40395400-40398800	Enhancers	Fetal Brain Male	brain
50	chr15:40395400-40400400	Flanking Active TSS	GM12878-XiMat	blood

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