Variant report

Variant	rs17065048
Chromosome Location	chr13:76368728-76368729
allele	A/G
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:6)

rs_ID	r²[population]
rs11842375	0.86[AFR][1000 genomes]
rs17065058	1.00[AFR][1000 genomes]
rs17065062	1.00[AFR][1000 genomes]
rs17065070	1.00[AFR][1000 genomes]
rs17065073	1.00[AFR][1000 genomes]
rs9600547	0.85[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	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr13:76338800-76371000	Weak transcription	Fetal Thymus	thymus
2	chr13:76343400-76370800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr13:76350000-76371000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr13:76353400-76370600	Weak transcription	Primary T cells from cord blood	blood
5	chr13:76355600-76370800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr13:76358200-76370800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr13:76358200-76371400	Weak transcription	NHEK	skin
8	chr13:76361600-76397800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr13:76361800-76377400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:76362000-76376600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr13:76362600-76377000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr13:76363000-76377000	Weak transcription	GM12878-XiMat	blood
13	chr13:76363200-76370800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr13:76363200-76371000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr13:76363200-76372400	Weak transcription	HMEC	breast
16	chr13:76363200-76376400	Weak transcription	Esophagus	oesophagus
17	chr13:76363200-76381800	Weak transcription	Fetal Stomach	stomach
18	chr13:76363400-76371600	Weak transcription	Colonic Mucosa	Colon
19	chr13:76363600-76371400	Weak transcription	Small Intestine	intestine
20	chr13:76364200-76370200	Weak transcription	NH-A	brain
21	chr13:76364600-76385000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr13:76364800-76371600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr13:76365400-76370800	Weak transcription	Fetal Muscle Leg	muscle
24	chr13:76366200-76369200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr13:76366400-76369200	Enhancers	Fetal Intestine Small	intestine
26	chr13:76366400-76372800	Weak transcription	Right Ventricle	heart
27	chr13:76366400-76376600	Weak transcription	Left Ventricle	heart
28	chr13:76366400-76380200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr13:76366800-76370600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr13:76366800-76374800	Weak transcription	Aorta	Aorta
31	chr13:76366800-76376600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr13:76366800-76379400	Weak transcription	Pancreas	Pancrea
33	chr13:76366800-76379400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr13:76366800-76380200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr13:76366800-76380200	Weak transcription	Lung	lung
36	chr13:76367000-76370800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr13:76367000-76371000	Weak transcription	Psoas Muscle	Psoas
38	chr13:76367000-76372000	Weak transcription	Gastric	stomach
39	chr13:76367000-76374000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr13:76367000-76377000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr13:76367000-76379800	Weak transcription	Brain Angular Gyrus	brain
42	chr13:76367000-76380200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr13:76367000-76387000	Weak transcription	Ovary	ovary
44	chr13:76367200-76369600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr13:76367200-76369600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr13:76367200-76370800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr13:76367200-76370800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr13:76367200-76370800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr13:76367200-76370800	Weak transcription	Thymus	Thymus
50	chr13:76367200-76370800	Weak transcription	NHDF-Ad	bronchial

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