Variant report

Variant	rs59044450
Chromosome Location	chr4:77879315-77879316
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:8)

rs_ID	r²[population]
rs72858635	0.93[AFR][1000 genomes]
rs72858646	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72858695	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72860205	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs72860219	0.82[AFR][1000 genomes]
rs72860221	0.82[AFR][1000 genomes]
rs7656485	0.82[AFR][1000 genomes]
rs904042	0.83[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1810313	chr4:77778670-77902099	Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77872600-77881400	Weak transcription	Esophagus	oesophagus
2	chr4:77872600-77882000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:77872600-77890800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:77872600-77894400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:77872600-77899200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:77872600-77900400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:77872800-77881200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr4:77873000-77883400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr4:77873000-77885800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr4:77873000-77899200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr4:77873200-77881000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:77873400-77884000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:77873400-77894200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr4:77873400-77894400	Weak transcription	NHEK	skin
15	chr4:77874200-77881400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:77874200-77885600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:77874400-77891000	Weak transcription	K562	blood
18	chr4:77875400-77884400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:77875600-77879600	Genic enhancers	NHLF	lung
20	chr4:77875800-77880600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:77876000-77881200	Weak transcription	Brain Anterior Caudate	brain
22	chr4:77876000-77887200	Weak transcription	HMEC	breast
23	chr4:77876000-77895200	Weak transcription	Aorta	Aorta
24	chr4:77876400-77879600	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr4:77876400-77891200	Weak transcription	HUVEC	blood vessel
26	chr4:77876600-77879400	Weak transcription	Left Ventricle	heart
27	chr4:77876600-77880400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:77876600-77883600	Weak transcription	Brain Angular Gyrus	brain
29	chr4:77876600-77887200	Weak transcription	Psoas Muscle	Psoas
30	chr4:77876600-77895400	Weak transcription	Right Atrium	heart
31	chr4:77876800-77881600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr4:77876800-77906000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:77877000-77880600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr4:77877000-77882400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:77877400-77879800	Enhancers	Fetal Intestine Large	intestine
36	chr4:77877400-77880600	Weak transcription	GM12878-XiMat	blood
37	chr4:77877600-77879600	Enhancers	Gastric	stomach
38	chr4:77877600-77879600	Enhancers	Lung	lung
39	chr4:77877600-77879800	Enhancers	Placenta	Placenta
40	chr4:77877600-77880400	Enhancers	Pancreas	Pancrea
41	chr4:77877800-77879600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:77877800-77881800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr4:77877800-77890400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr4:77878000-77882000	Weak transcription	NH-A	brain
45	chr4:77878000-77883600	Weak transcription	Fetal Brain Female	brain
46	chr4:77878000-77890400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr4:77878400-77881200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr4:77878400-77883400	Weak transcription	Fetal Brain Male	brain
49	chr4:77878400-77890600	Weak transcription	Ovary	ovary
50	chr4:77878600-77879400	Enhancers	Colonic Mucosa	Colon

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