Variant report

Variant	rs9544044
Chromosome Location	chr13:76365143-76365144
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1570556	0.83[AFR][1000 genomes]
rs474240	0.85[ASN][1000 genomes]
rs552441	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs583368	0.85[ASN][1000 genomes]
rs598500	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs658746	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs660942	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs668008	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7335067	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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:72 , 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	chr13:76357000-76368400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr13:76358200-76370800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr13:76358200-76371400	Weak transcription	NHEK	skin
9	chr13:76360200-76367000	Genic enhancers	Osteobl	bone
10	chr13:76361400-76366400	Enhancers	Liver	Liver
11	chr13:76361600-76397800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr13:76361800-76377400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:76362000-76366000	Enhancers	Fetal Heart	heart
14	chr13:76362000-76366400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr13:76362000-76366400	Enhancers	A549	lung
16	chr13:76362000-76376600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr13:76362200-76365800	Active TSS	HSMMtube	muscle
18	chr13:76362600-76377000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr13:76362800-76366400	Genic enhancers	Fetal Intestine Small	intestine
20	chr13:76363000-76366000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr13:76363000-76377000	Weak transcription	GM12878-XiMat	blood
22	chr13:76363200-76366000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr13:76363200-76366200	Weak transcription	Fetal Lung	lung
24	chr13:76363200-76370800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr13:76363200-76371000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr13:76363200-76372400	Weak transcription	HMEC	breast
27	chr13:76363200-76376400	Weak transcription	Esophagus	oesophagus
28	chr13:76363200-76381800	Weak transcription	Fetal Stomach	stomach
29	chr13:76363400-76371600	Weak transcription	Colonic Mucosa	Colon
30	chr13:76363600-76366200	Weak transcription	Fetal Kidney	kidney
31	chr13:76363600-76366600	Weak transcription	Brain Anterior Caudate	brain
32	chr13:76363600-76371400	Weak transcription	Small Intestine	intestine
33	chr13:76363800-76366000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr13:76363800-76366000	Weak transcription	Pancreas	Pancrea
35	chr13:76364000-76366200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr13:76364200-76365200	Weak transcription	Fetal Intestine Large	intestine
37	chr13:76364200-76365400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr13:76364200-76365600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr13:76364200-76366400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr13:76364200-76366600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr13:76364200-76366600	Weak transcription	Right Atrium	heart
42	chr13:76364200-76366600	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr13:76364200-76370200	Weak transcription	NH-A	brain
44	chr13:76364400-76366000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr13:76364400-76366000	Weak transcription	Lung	lung
46	chr13:76364400-76366200	Weak transcription	Aorta	Aorta
47	chr13:76364400-76366200	Weak transcription	NHLF	lung
48	chr13:76364400-76366600	Weak transcription	Ovary	ovary
49	chr13:76364400-76367800	Enhancers	Placenta	Placenta
50	chr13:76364600-76365400	Weak transcription	Stomach Mucosa	stomach

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