Variant report

Variant	rs72769726
Chromosome Location	chr5:58876797-58876798
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1035321	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10491440	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10491441	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10491442	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10514859	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11950308	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11951110	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11956402	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11957151	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12514190	1.00[ASN][1000 genomes]
rs12520633	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12521279	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17439074	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17741863	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17797996	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17798319	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36081664	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56007967	1.00[ASN][1000 genomes]
rs62355561	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62355562	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62355581	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62355582	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62355584	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357524	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357525	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357527	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357530	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62372240	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751212	1.00[ASN][1000 genomes]
rs72769729	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs893190	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953302	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][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	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
3	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
4	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
5	nsv881708	chr5:58869051-59093198	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58859200-58883400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:58859400-58884000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:58863200-58878400	Weak transcription	Stomach Mucosa	stomach
4	chr5:58867400-58879800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:58870600-58878600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:58870600-58879600	Weak transcription	Small Intestine	intestine
7	chr5:58872800-58880400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:58873000-58879600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:58873000-58880000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:58874400-58879400	Enhancers	Fetal Intestine Large	intestine
11	chr5:58874600-58877800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:58874600-58879600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:58874800-58877800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr5:58874800-58877800	Weak transcription	Fetal Intestine Small	intestine
15	chr5:58874800-58877800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr5:58875000-58880000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:58875400-58878600	Enhancers	Fetal Brain Male	brain
18	chr5:58875600-58879600	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:58875800-58877200	Weak transcription	Fetal Brain Female	brain
20	chr5:58875800-58878600	Weak transcription	Hela-S3	cervix
21	chr5:58875800-58880000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:58876000-58878600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:58876000-58879000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr5:58876000-58879400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:58876000-58879600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr5:58876000-58879600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:58876200-58876800	Genic enhancers	A549	lung
28	chr5:58876200-58877000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr5:58876200-58878800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr5:58876200-58879000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:58876200-58879200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:58876200-58879400	Weak transcription	Brain Anterior Caudate	brain
33	chr5:58876200-58879400	Weak transcription	Brain Hippocampus Middle	brain
34	chr5:58876400-58877000	Active TSS	Psoas Muscle	Psoas
35	chr5:58876400-58877200	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr5:58876400-58878600	Weak transcription	Brain Substantia Nigra	brain
37	chr5:58876400-58879400	Weak transcription	Brain Angular Gyrus	brain
38	chr5:58876600-58878400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr5:58876600-58878600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr5:58876600-58879400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr5:58876600-58879400	Weak transcription	Fetal Kidney	kidney

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