Variant report

Variant	rs7718993
Chromosome Location	chr5:115866441-115866442
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs6866558	1.00[AFR][1000 genomes]
rs6883820	0.87[AFR][1000 genomes]
rs6897908	1.00[AMR][1000 genomes]
rs7701044	1.00[AFR][1000 genomes]
rs7701829	1.00[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	nsv518494	chr5:115864578-115869260	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115845800-115867200	Weak transcription	Right Ventricle	heart
2	chr5:115858200-115867000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:115858400-115873600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr5:115859400-115870000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr5:115860000-115869600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr5:115860000-115872000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:115860000-115872200	Enhancers	HepG2	liver
8	chr5:115860200-115867000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:115861000-115870400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr5:115861600-115867000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:115863600-115867000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr5:115864000-115867200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr5:115864400-115867000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:115864400-115867000	Weak transcription	Lung	lung
15	chr5:115864400-115870200	Weak transcription	Left Ventricle	heart
16	chr5:115864600-115867000	Weak transcription	Psoas Muscle	Psoas
17	chr5:115864600-115867000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr5:115864600-115867400	Weak transcription	Pancreas	Pancrea
19	chr5:115864600-115867600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr5:115864600-115869400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:115864600-115869400	Weak transcription	Colonic Mucosa	Colon
22	chr5:115864600-115869600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:115864600-115870000	Weak transcription	Adipose Nuclei	Adipose
24	chr5:115864600-115870800	Enhancers	Fetal Intestine Large	intestine
25	chr5:115864600-115871600	Enhancers	Fetal Intestine Small	intestine
26	chr5:115864600-115872200	Weak transcription	Fetal Brain Male	brain
27	chr5:115864800-115866600	Weak transcription	Placenta	Placenta
28	chr5:115864800-115866800	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr5:115864800-115868200	Weak transcription	Liver	Liver
30	chr5:115864800-115868400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:115864800-115868400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr5:115864800-115868400	Weak transcription	Fetal Brain Female	brain
33	chr5:115864800-115868600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:115864800-115870000	Weak transcription	Right Atrium	heart
35	chr5:115864800-115872000	Enhancers	Brain Substantia Nigra	brain
36	chr5:115865200-115866600	Enhancers	Colon Smooth Muscle	Colon
37	chr5:115865200-115867600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr5:115865200-115867800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:115865200-115868000	Weak transcription	Fetal Heart	heart
40	chr5:115865400-115866600	Enhancers	Rectal Smooth Muscle	rectum
41	chr5:115865600-115866800	Enhancers	Duodenum Mucosa	Duodenum
42	chr5:115865600-115867000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr5:115865600-115867000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr5:115865600-115867200	Weak transcription	Ovary	ovary
45	chr5:115865600-115867400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:115865600-115867400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr5:115865600-115867400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr5:115865600-115868000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr5:115865600-115868600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr5:115865600-115868600	Weak transcription	Fetal Stomach	stomach

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