Variant report

Variant	rs294503
Chromosome Location	chr5:58869051-58869052
allele	A/G
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:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10056137	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10058879	0.95[EUR][1000 genomes]
rs159393	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs172363	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs291117	1.00[ASN][1000 genomes]
rs291118	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs291119	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs291120	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs294476	0.98[ASN][1000 genomes]
rs294480	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs294491	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295945	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs295949	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[EUR][1000 genomes]
rs295976	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs295977	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs41404047	1.00[CHB][hapmap];0.88[CHD][hapmap];0.98[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:25 , 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	chr5:58863200-58878400	Weak transcription	Stomach Mucosa	stomach
13	chr5:58865600-58874400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr5:58865800-58874600	Weak transcription	Hela-S3	cervix
15	chr5:58865800-58875400	Weak transcription	Psoas Muscle	Psoas
16	chr5:58866000-58874400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:58867200-58874400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:58867400-58872800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:58867400-58874400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:58867400-58874600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:58867400-58875400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr5:58867400-58879800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr5:58868000-58874400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr5:58868800-58869400	ZNF genes & repeats	Fetal Intestine Small	intestine
25	chr5:58869000-58869400	Transcr. at gene 5' and 3'	A549	lung

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