Variant report

Variant	rs9576866
Chromosome Location	chr13:40140615-40140616
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs11841092	0.86[EUR][1000 genomes]
rs58418761	0.85[EUR][1000 genomes]
rs58918104	0.85[EUR][1000 genomes]
rs72623305	0.85[EUR][1000 genomes]
rs7332354	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9315708	0.82[EUR][1000 genomes]
rs9576850	0.88[EUR][1000 genomes]
rs9576859	0.80[AFR][1000 genomes]
rs9576863	0.82[EUR][1000 genomes]
rs9576864	0.85[EUR][1000 genomes]
rs9576867	0.85[EUR][1000 genomes]
rs9576868	0.85[EUR][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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40129000-40145600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:40129000-40152800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:40132200-40145600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr13:40135800-40142000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:40135800-40145600	Weak transcription	Lung	lung
6	chr13:40136400-40145600	Weak transcription	Right Ventricle	heart
7	chr13:40136800-40140800	Enhancers	Ovary	ovary
8	chr13:40136800-40141200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr13:40138800-40141600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr13:40138800-40152800	Weak transcription	Aorta	Aorta
11	chr13:40139200-40158000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr13:40139600-40141200	Enhancers	Rectal Smooth Muscle	rectum
13	chr13:40139800-40140800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr13:40139800-40140800	Enhancers	Left Ventricle	heart
15	chr13:40139800-40140800	Enhancers	Right Atrium	heart
16	chr13:40139800-40141200	Enhancers	NHLF	lung
17	chr13:40139800-40142000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr13:40139800-40142200	Enhancers	HSMMtube	muscle
19	chr13:40139800-40142200	Enhancers	NHDF-Ad	bronchial
20	chr13:40139800-40146400	Weak transcription	Brain Substantia Nigra	brain
21	chr13:40140000-40145600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr13:40140000-40169400	Weak transcription	Fetal Stomach	stomach
23	chr13:40140200-40140800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr13:40140200-40140800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr13:40140200-40140800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr13:40140200-40140800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr13:40140200-40140800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr13:40140200-40140800	Enhancers	Brain Cingulate Gyrus	brain
29	chr13:40140200-40141000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr13:40140200-40142200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr13:40140200-40145600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr13:40140200-40149600	Weak transcription	Fetal Muscle Leg	muscle
33	chr13:40140400-40140800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:40140400-40140800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr13:40140400-40141000	Enhancers	HMEC	breast
36	chr13:40140400-40141600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr13:40140400-40141600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr13:40140400-40141800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr13:40140400-40142000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr13:40140400-40142000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr13:40140400-40142000	Enhancers	HSMM	muscle
42	chr13:40140400-40142200	Enhancers	Osteobl	bone
43	chr13:40140400-40145400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr13:40140400-40157800	Weak transcription	Adipose Nuclei	Adipose
45	chr13:40140600-40141000	Enhancers	NHEK	skin
46	chr13:40140600-40141200	Weak transcription	A549	lung
47	chr13:40140600-40141800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr13:40140600-40141800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr13:40140600-40142000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr13:40140600-40142000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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