Variant report

Variant	rs59520796
Chromosome Location	chr5:16884047-16884048
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:16883385..16886348-chr5:16888269..16889832,2	MCF-7	breast:
2	chr5:16883490..16885617-chr5:17011887..17014186,2	MCF-7	breast:
3	chr5:16882313..16886357-chr5:16933451..16937299,4	MCF-7	breast:
4	chr5:16877490..16879580-chr5:16883776..16886386,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145555	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11953904	1.00[AMR][1000 genomes]
rs13340373	1.00[AMR][1000 genomes]
rs13362526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs168812	1.00[AMR][1000 genomes]
rs59897191	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2762500	chr5:16815489-16952565	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1034844	chr5:16854341-16903100	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3485757	chr5:16856475-16966851	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
7	esv3485758	chr5:16856475-16966851	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16865200-16884600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:16867600-16885800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:16867600-16889000	Weak transcription	Spleen	Spleen
4	chr5:16871200-16886000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:16873600-16886000	Weak transcription	Left Ventricle	heart
6	chr5:16874000-16894600	Weak transcription	Esophagus	oesophagus
7	chr5:16874400-16885400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:16875600-16889000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:16876800-16885200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:16877200-16884200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr5:16877400-16885600	Enhancers	Fetal Intestine Large	intestine
12	chr5:16877400-16888200	Weak transcription	HUVEC	blood vessel
13	chr5:16877400-16889000	Weak transcription	Fetal Stomach	stomach
14	chr5:16877800-16889000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:16878200-16884800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:16878200-16885800	Weak transcription	NH-A	brain
17	chr5:16878200-16893800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:16878400-16884600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:16879200-16886800	Enhancers	Stomach Mucosa	stomach
20	chr5:16879600-16884800	Weak transcription	Small Intestine	intestine
21	chr5:16879600-16887600	Enhancers	HSMM	muscle
22	chr5:16880600-16894800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr5:16880800-16886400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr5:16881000-16889800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr5:16881400-16884600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:16881400-16886000	Enhancers	HSMMtube	muscle
27	chr5:16881600-16884800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr5:16881600-16886400	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr5:16881800-16884200	Weak transcription	NHEK	skin
30	chr5:16881800-16884800	Weak transcription	NHLF	lung
31	chr5:16881800-16885800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr5:16881800-16886000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr5:16881800-16888800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr5:16881800-16889000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:16881800-16889000	Weak transcription	Fetal Kidney	kidney
36	chr5:16881800-16889400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr5:16881800-16889800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:16882000-16885800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr5:16882000-16894200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:16882200-16885000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr5:16882200-16885800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr5:16882200-16886000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr5:16882400-16885200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr5:16882400-16889000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr5:16882600-16888800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:16882600-16889800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:16882800-16887000	Enhancers	NHDF-Ad	bronchial
48	chr5:16882800-16895600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr5:16883400-16884400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:16883400-16884400	Enhancers	Pancreas	Pancrea

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