Variant report

Variant	rs72764078
Chromosome Location	chr5:58445471-58445472
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10056754	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10058671	0.86[EUR][1000 genomes]
rs10058676	0.86[EUR][1000 genomes]
rs10062176	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10069146	0.90[EUR][1000 genomes]
rs17722929	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28539646	1.00[ASN][1000 genomes]
rs28544243	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35425879	0.91[EUR][1000 genomes]
rs72764076	0.92[EUR][1000 genomes]
rs72764077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72764085	0.82[AMR][1000 genomes]
rs7734053	0.83[EUR][1000 genomes]
rs7734070	0.83[EUR][1000 genomes]
rs9292192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[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	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv881702	chr5:58432413-58474854	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58424000-58447000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:58424200-58446200	Weak transcription	Fetal Intestine Large	intestine
3	chr5:58424200-58446600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr5:58427200-58454000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr5:58429800-58447200	Weak transcription	Left Ventricle	heart
6	chr5:58433000-58451600	Weak transcription	Fetal Muscle Leg	muscle
7	chr5:58437400-58454000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr5:58439000-58484000	Weak transcription	Fetal Kidney	kidney
9	chr5:58440000-58447000	Weak transcription	Stomach Mucosa	stomach
10	chr5:58440200-58448600	Weak transcription	Brain Anterior Caudate	brain
11	chr5:58440600-58447000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr5:58441200-58446600	Weak transcription	Fetal Heart	heart
13	chr5:58442400-58448600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:58443000-58447000	Weak transcription	Primary T cells from cord blood	blood
15	chr5:58443000-58447400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:58443000-58447600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr5:58443200-58445800	Weak transcription	Hela-S3	cervix
18	chr5:58443200-58447000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr5:58443200-58447000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr5:58443800-58446400	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr5:58444000-58449800	Genic enhancers	A549	lung
22	chr5:58444200-58445600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:58444600-58446000	Enhancers	Colon Smooth Muscle	Colon
24	chr5:58444600-58446200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr5:58444800-58445800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:58444800-58446000	Enhancers	Psoas Muscle	Psoas
27	chr5:58444800-58448000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr5:58444800-58448400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr5:58445000-58446000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:58445000-58446000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr5:58445000-58446200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr5:58445200-58445800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr5:58445400-58445800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr5:58445400-58447200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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