Variant report

Variant	rs7519564
Chromosome Location	chr1:155486392-155486393
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12734374	0.91[AFR][1000 genomes]
rs59650797	1.00[AMR][1000 genomes]
rs6672663	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6690002	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7514174	1.00[AFR][1000 genomes]
rs7524589	1.00[AMR][1000 genomes]
rs7527209	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7529556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7531890	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7536194	1.00[AMR][1000 genomes]
rs7554397	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8177979	1.00[AMR][1000 genomes]
rs8177997	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	esv1799856	chr1:155305059-155534616	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv1795662	chr1:155305059-155540660	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv1795478	chr1:155334933-155510824	Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv1803551	chr1:155334933-155522572	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv1800974	chr1:155367680-155510824	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv872468	chr1:155413304-155549562	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155452000-155488800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:155452400-155505200	Weak transcription	Placenta	Placenta
3	chr1:155462800-155497400	Weak transcription	Pancreas	Pancrea
4	chr1:155463000-155489400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:155464800-155488800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:155466600-155500600	Weak transcription	Aorta	Aorta
7	chr1:155470200-155490800	Weak transcription	NHEK	skin
8	chr1:155470400-155488800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:155470400-155489400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:155470400-155492000	Weak transcription	NH-A	brain
11	chr1:155470400-155495000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:155470400-155501400	Weak transcription	Fetal Kidney	kidney
13	chr1:155470600-155488600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:155470600-155488800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:155470600-155488800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:155470600-155489400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:155470600-155489400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:155470600-155492600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:155470600-155493200	Weak transcription	Small Intestine	intestine
20	chr1:155470600-155498600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:155470800-155493000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:155471200-155498800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:155471400-155489400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:155471400-155489400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:155471600-155488000	Weak transcription	Primary B cells from cord blood	blood
26	chr1:155473800-155488600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr1:155474000-155488600	Weak transcription	A549	lung
28	chr1:155474200-155501400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr1:155476400-155518200	Weak transcription	HMEC	breast
30	chr1:155477600-155509400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:155478000-155498800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:155478200-155506000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:155478400-155492600	Weak transcription	Esophagus	oesophagus
34	chr1:155478400-155492600	Weak transcription	Lung	lung
35	chr1:155478400-155493000	Weak transcription	Right Ventricle	heart
36	chr1:155478400-155493000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:155478400-155493400	Weak transcription	Fetal Lung	lung
38	chr1:155478400-155497200	Weak transcription	Brain Angular Gyrus	brain
39	chr1:155478400-155510400	Weak transcription	Stomach Mucosa	stomach
40	chr1:155478400-155518200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr1:155478600-155493200	Weak transcription	Adipose Nuclei	Adipose
42	chr1:155478800-155493000	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:155478800-155493200	Weak transcription	Colon Smooth Muscle	Colon
44	chr1:155478800-155496400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr1:155478800-155497600	Weak transcription	Brain Substantia Nigra	brain
46	chr1:155479200-155493200	Weak transcription	Brain Anterior Caudate	brain
47	chr1:155479400-155499800	Weak transcription	HepG2	liver
48	chr1:155479600-155489400	Weak transcription	Brain Germinal Matrix	brain
49	chr1:155479600-155493000	Weak transcription	Psoas Muscle	Psoas
50	chr1:155480000-155489400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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