Variant report

Variant	rs62335516
Chromosome Location	chr5:5481072-5481073
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:5480560..5482394-chr5:5485667..5488011,2	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1004263	0.82[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	esv2757981	chr5:5447098-5764620	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv2759319	chr5:5447098-5764620	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5433400-5495200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:5458600-5495000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:5460000-5481600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:5462400-5494600	Weak transcription	Colonic Mucosa	Colon
5	chr5:5463000-5493800	Weak transcription	Fetal Heart	heart
6	chr5:5463800-5483600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:5465200-5482600	Weak transcription	Gastric	stomach
8	chr5:5465200-5493800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:5465200-5495000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:5467600-5488800	Weak transcription	Brain Substantia Nigra	brain
11	chr5:5468000-5494000	Weak transcription	Fetal Brain Male	brain
12	chr5:5470400-5492600	Weak transcription	Colon Smooth Muscle	Colon
13	chr5:5472800-5490600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:5475400-5482600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:5475400-5487000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr5:5475400-5492400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr5:5475400-5494000	Weak transcription	Fetal Intestine Small	intestine
18	chr5:5475400-5495000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr5:5476000-5487200	Weak transcription	HSMMtube	muscle
20	chr5:5476000-5490000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr5:5476000-5490800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:5476200-5488000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr5:5476600-5484800	Weak transcription	Primary B cells from cord blood	blood
24	chr5:5476800-5483400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:5476800-5486000	Weak transcription	HMEC	breast
26	chr5:5476800-5487000	Weak transcription	Brain Anterior Caudate	brain
27	chr5:5476800-5487000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr5:5476800-5492600	Weak transcription	A549	lung
29	chr5:5477000-5481400	Weak transcription	Hela-S3	cervix
30	chr5:5477000-5482000	Weak transcription	Liver	Liver
31	chr5:5477000-5482200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr5:5477000-5482600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:5477000-5482600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:5477000-5482600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr5:5477000-5482600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr5:5477000-5482600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr5:5477000-5482600	Weak transcription	Lung	lung
38	chr5:5477000-5482600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr5:5477000-5483400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr5:5477000-5483600	Weak transcription	Fetal Muscle Leg	muscle
41	chr5:5477000-5484200	Weak transcription	Osteobl	bone
42	chr5:5477000-5484800	Weak transcription	Aorta	Aorta
43	chr5:5477000-5484800	Weak transcription	HUVEC	blood vessel
44	chr5:5477000-5486200	Weak transcription	Pancreas	Pancrea
45	chr5:5477000-5486600	Weak transcription	Brain Hippocampus Middle	brain
46	chr5:5477000-5486800	Weak transcription	Fetal Stomach	stomach
47	chr5:5477000-5487000	Weak transcription	Fetal Brain Female	brain
48	chr5:5477000-5487200	Weak transcription	Spleen	Spleen
49	chr5:5477000-5487400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:5477000-5490800	Weak transcription	Esophagus	oesophagus

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