Variant report

Variant	rs56965779
Chromosome Location	chr5:58863324-58863325
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73758815	1.00[AFR][1000 genomes]
rs73758821	0.84[AFR][1000 genomes]
rs73758826	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598254	chr5:58715782-58923601	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv881706	chr5:58730111-58865857	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1031631	chr5:58783629-59015470	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv462189	chr5:58830145-58879822	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv598255	chr5:58830145-58879822	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58856600-58864000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:58856600-58865400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr5:58859200-58883400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:58859400-58865200	Weak transcription	Brain Substantia Nigra	brain
5	chr5:58859400-58870400	Weak transcription	Fetal Intestine Large	intestine
6	chr5:58859400-58871600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:58859400-58884000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:58859600-58864800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr5:58859800-58864400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:58859800-58865400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:58859800-58873800	Weak transcription	HSMM	muscle
12	chr5:58860000-58866200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:58860200-58863600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:58860200-58864000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr5:58860200-58873600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr5:58860400-58865600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:58860800-58865000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:58861000-58870400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:58861800-58873000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:58861800-58874600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr5:58862200-58865000	Weak transcription	HUVEC	blood vessel
22	chr5:58862400-58865400	Weak transcription	Psoas Muscle	Psoas
23	chr5:58862600-58864200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:58862600-58865000	Weak transcription	Hela-S3	cervix
25	chr5:58862600-58865400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr5:58862600-58867000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr5:58862600-58874200	Weak transcription	Fetal Brain Male	brain
28	chr5:58863000-58870200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr5:58863200-58868000	Genic enhancers	A549	lung
30	chr5:58863200-58878400	Weak transcription	Stomach Mucosa	stomach

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