Variant report

Variant	rs17071570
Chromosome Location	chr13:80110772-80110773
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17071696	1.00[AMR][1000 genomes]
rs17071705	1.00[AMR][1000 genomes]
rs17071726	1.00[AMR][1000 genomes]
rs17071732	1.00[AMR][1000 genomes]
rs17071735	1.00[AMR][1000 genomes]
rs17071737	1.00[AMR][1000 genomes]
rs17071742	1.00[AMR][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	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv916983	chr13:80065879-80249702	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80066800-80122800	Weak transcription	Esophagus	oesophagus
2	chr13:80083000-80120000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:80083000-80122800	Weak transcription	Stomach Mucosa	stomach
4	chr13:80087400-80134000	Weak transcription	Aorta	Aorta
5	chr13:80087400-80134600	Weak transcription	Pancreas	Pancrea
6	chr13:80089400-80118400	Weak transcription	Small Intestine	intestine
7	chr13:80090600-80112000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:80093400-80112800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr13:80097000-80112400	Weak transcription	Thymus	Thymus
10	chr13:80097200-80112400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr13:80097200-80122800	Weak transcription	Fetal Lung	lung
12	chr13:80097400-80121800	Weak transcription	Lung	lung
13	chr13:80097800-80110800	Weak transcription	Fetal Intestine Small	intestine
14	chr13:80098000-80112600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr13:80098200-80111000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:80098400-80114200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr13:80098400-80123200	Weak transcription	Fetal Kidney	kidney
18	chr13:80098600-80135000	Weak transcription	Placenta	Placenta
19	chr13:80099400-80112000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr13:80099400-80115600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr13:80099400-80133200	Weak transcription	Psoas Muscle	Psoas
22	chr13:80099600-80112000	Weak transcription	Adipose Nuclei	Adipose
23	chr13:80099800-80113600	Weak transcription	GM12878-XiMat	blood
24	chr13:80100400-80121600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr13:80100600-80136400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr13:80100800-80133200	Weak transcription	Hela-S3	cervix
27	chr13:80101000-80123400	Weak transcription	HMEC	breast
28	chr13:80101800-80110800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr13:80101800-80133200	Weak transcription	Primary T cells from cord blood	blood
30	chr13:80102200-80133600	Weak transcription	Gastric	stomach
31	chr13:80102400-80111800	Weak transcription	Left Ventricle	heart
32	chr13:80102400-80114200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr13:80102400-80114400	Weak transcription	Right Ventricle	heart
34	chr13:80102400-80115400	Weak transcription	Fetal Muscle Leg	muscle
35	chr13:80103400-80111000	Weak transcription	Fetal Stomach	stomach
36	chr13:80104400-80112200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr13:80104800-80133600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr13:80105800-80115800	Weak transcription	Brain Anterior Caudate	brain
39	chr13:80106000-80112000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr13:80106200-80111000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr13:80106200-80111200	Weak transcription	Fetal Thymus	thymus
42	chr13:80106200-80111800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr13:80106600-80113800	Strong transcription	Dnd41	blood
44	chr13:80107800-80110800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr13:80107800-80111400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr13:80108400-80132200	Weak transcription	A549	lung
47	chr13:80108800-80113000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr13:80109000-80111200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr13:80109000-80111400	Weak transcription	Fetal Intestine Large	intestine
50	chr13:80109000-80113000	Weak transcription	Ovary	ovary

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