Variant report

Variant	rs62357530
Chromosome Location	chr5:58867267-58867268
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	chr13:53222466..53224442-chr5:58866400..58869361,2	MCF-7	breast:
2	chr5:58858064..58860308-chr5:58864549..58867326,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1035321	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10491440	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10491441	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10491442	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10514859	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11950308	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11951110	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11956402	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11957151	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12514190	1.00[ASN][1000 genomes]
rs12520633	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12521279	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17439074	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17741863	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17797996	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17798319	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36081664	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56007967	1.00[ASN][1000 genomes]
rs62355561	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62355562	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62355581	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62355582	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62355584	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357524	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357525	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357527	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62372240	1.00[ASN][1000 genomes]
rs72751212	1.00[ASN][1000 genomes]
rs72769726	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72769729	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs893190	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953302	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:29 , 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	chr5:58859400-58870400	Weak transcription	Fetal Intestine Large	intestine
3	chr5:58859400-58871600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr5:58859400-58884000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:58859800-58873800	Weak transcription	HSMM	muscle
6	chr5:58860200-58873600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:58861000-58870400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:58861800-58873000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:58861800-58874600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr5:58862600-58874200	Weak transcription	Fetal Brain Male	brain
11	chr5:58863000-58870200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr5:58863200-58868000	Genic enhancers	A549	lung
13	chr5:58863200-58878400	Weak transcription	Stomach Mucosa	stomach
14	chr5:58864000-58867400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:58864600-58867400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr5:58864800-58867400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr5:58864800-58867400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr5:58865000-58867400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:58865000-58867400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:58865600-58874400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr5:58865800-58874600	Weak transcription	Hela-S3	cervix
22	chr5:58865800-58875400	Weak transcription	Psoas Muscle	Psoas
23	chr5:58866000-58867400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr5:58866000-58867800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr5:58866000-58874400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:58866200-58867400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:58867000-58868000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr5:58867200-58867400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:58867200-58874400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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