Variant report

Variant	rs73064938
Chromosome Location	chr5:16894388-16894389
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:16892933..16897070-chr5:16897498..16901971,5	MCF-7	breast:
2	chr5:16893313..16896141-chr5:16935202..16937655,2	MCF-7	breast:
3	chr5:16893446..16895051-chr5:16936085..16937930,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145555	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16899120	1.00[EUR][1000 genomes]
rs61420593	1.00[EUR][1000 genomes]
rs73064925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73064936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16874000-16894600	Weak transcription	Esophagus	oesophagus
2	chr5:16880600-16894800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:16882800-16895600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:16884400-16894800	Weak transcription	Psoas Muscle	Psoas
5	chr5:16886200-16894400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:16890200-16894600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr5:16890400-16894600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:16890400-16894600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:16890400-16894800	Weak transcription	Fetal Stomach	stomach
10	chr5:16890600-16894400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr5:16890600-16894400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr5:16890600-16894600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:16891400-16894800	Weak transcription	Ovary	ovary
14	chr5:16891600-16894400	Weak transcription	Spleen	Spleen
15	chr5:16891600-16894400	Weak transcription	NHLF	lung
16	chr5:16891600-16894800	Weak transcription	Lung	lung
17	chr5:16892200-16894400	Weak transcription	Fetal Kidney	kidney
18	chr5:16892200-16894400	Weak transcription	Fetal Lung	lung
19	chr5:16892800-16894400	Weak transcription	Gastric	stomach
20	chr5:16893400-16896600	Enhancers	Fetal Intestine Small	intestine
21	chr5:16893400-16898400	Enhancers	Fetal Intestine Large	intestine
22	chr5:16893600-16894800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:16893600-16898400	Enhancers	Colonic Mucosa	Colon
24	chr5:16893600-16899000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:16893800-16894400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:16893800-16894400	Enhancers	Duodenum Mucosa	Duodenum
27	chr5:16893800-16894400	Enhancers	Small Intestine	intestine
28	chr5:16893800-16894600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:16893800-16894600	Flanking Active TSS	A549	lung
30	chr5:16893800-16894800	Enhancers	Stomach Mucosa	stomach
31	chr5:16893800-16895600	Flanking Active TSS	Hela-S3	cervix
32	chr5:16893800-16897000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:16893800-16897800	Enhancers	HMEC	breast
34	chr5:16893800-16898200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:16893800-16898200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:16893800-16898200	Enhancers	Pancreas	Pancrea
37	chr5:16893800-16898600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:16894000-16894400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:16894000-16894400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:16894000-16894400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr5:16894000-16894400	Enhancers	NHEK	skin
42	chr5:16894000-16894600	Enhancers	Fetal Thymus	thymus
43	chr5:16894000-16894800	Enhancers	HepG2	liver
44	chr5:16894000-16896400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr5:16894000-16897000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr5:16894000-16897000	Enhancers	Fetal Muscle Trunk	muscle
47	chr5:16894000-16897200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:16894000-16898200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr5:16894000-16898200	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr5:16894000-16898400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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