Variant report

Variant	rs2080958
Chromosome Location	chr5:179736839-179736840
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179735551..179737821-chr5:179739675..179741218,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2080959	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2386857	0.87[AMR][1000 genomes]
rs2386859	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2892153	0.85[EUR][1000 genomes]
rs6601108	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7715919	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs888926	0.84[EUR][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	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
6	nsv883290	chr5:179712060-179818868	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv830563	chr5:179717693-179898609	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1026417	chr5:179721376-180291360	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179720600-179739200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr5:179720600-179742800	Weak transcription	Right Ventricle	heart
3	chr5:179720600-179743200	Weak transcription	Fetal Lung	lung
4	chr5:179720600-179756800	Weak transcription	NHDF-Ad	bronchial
5	chr5:179720600-179758400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:179720800-179743600	Weak transcription	Right Atrium	heart
7	chr5:179720800-179747000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:179721000-179740800	Weak transcription	Esophagus	oesophagus
9	chr5:179721000-179741000	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:179721000-179741200	Weak transcription	Fetal Brain Male	brain
11	chr5:179721000-179743000	Weak transcription	Spleen	Spleen
12	chr5:179721800-179740800	Weak transcription	Gastric	stomach
13	chr5:179723200-179740800	Weak transcription	Pancreas	Pancrea
14	chr5:179723400-179740600	Weak transcription	Fetal Intestine Small	intestine
15	chr5:179725200-179740800	Weak transcription	Hela-S3	cervix
16	chr5:179726800-179750600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:179727000-179755800	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr5:179727200-179757400	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr5:179727200-179757400	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:179727400-179739800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:179727400-179740000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr5:179727400-179757600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:179727600-179757600	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr5:179728600-179761400	Weak transcription	Aorta	Aorta
25	chr5:179728800-179750800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:179729600-179743200	Weak transcription	HSMM	muscle
27	chr5:179730600-179740800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr5:179730800-179750800	Weak transcription	HSMMtube	muscle
29	chr5:179731000-179742800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:179731200-179740600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr5:179731600-179740800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:179731600-179755600	Weak transcription	Fetal Brain Female	brain
33	chr5:179731800-179738200	Weak transcription	A549	lung
34	chr5:179731800-179741200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:179732000-179738400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:179732000-179740600	Weak transcription	Brain Germinal Matrix	brain
37	chr5:179732200-179737400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr5:179732200-179750800	Weak transcription	Brain Substantia Nigra	brain
39	chr5:179732800-179737800	Weak transcription	Placenta	Placenta
40	chr5:179732800-179751200	Weak transcription	Adipose Nuclei	Adipose
41	chr5:179733000-179738200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr5:179733000-179740600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr5:179733400-179738400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr5:179733600-179741200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:179733600-179744800	Weak transcription	Brain Hippocampus Middle	brain
46	chr5:179734000-179737600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:179734000-179737600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:179734000-179738000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr5:179734000-179738200	Weak transcription	Brain Anterior Caudate	brain
50	chr5:179734200-179738000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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