Variant report

Variant	rs2069332
Chromosome Location	chr5:179428177-179428178
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179423298..179424823-chr5:179427482..179429266,2	MCF-7	breast:
2	chr5:179426841..179429316-chr5:179431530..179434128,2	MCF-7	breast:
3	chr5:179427967..179430007-chr5:179432623..179435303,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10067359	1.00[EUR][1000 genomes]
rs10072480	1.00[EUR][1000 genomes]
rs10903249	1.00[EUR][1000 genomes]
rs11249672	1.00[EUR][1000 genomes]
rs4700715	1.00[EUR][1000 genomes]
rs4700878	1.00[EUR][1000 genomes]
rs4700879	1.00[EUR][1000 genomes]
rs6601084	1.00[EUR][1000 genomes]
rs6601085	1.00[EUR][1000 genomes]
rs6878491	1.00[EUR][1000 genomes]
rs6878835	1.00[EUR][1000 genomes]
rs6882752	1.00[EUR][1000 genomes]
rs6882917	1.00[EUR][1000 genomes]
rs6897364	1.00[EUR][1000 genomes]
rs7706543	1.00[AMR][1000 genomes]
rs7707107	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
2	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
3	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
4	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
5	nsv830561	chr5:179365637-179537012	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179396600-179461800	Weak transcription	HSMM	muscle
2	chr5:179404600-179439800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:179405200-179428200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:179405200-179429000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:179405200-179453400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:179406000-179428600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr5:179407000-179428200	Weak transcription	Gastric	stomach
8	chr5:179408000-179428200	Weak transcription	Left Ventricle	heart
9	chr5:179416200-179428600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:179421800-179462400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr5:179422000-179428800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:179422400-179429600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:179422800-179428200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:179422800-179428600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:179423600-179428400	Weak transcription	Brain Hippocampus Middle	brain
16	chr5:179423800-179428200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:179424200-179428200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:179425000-179428200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:179425000-179428400	Weak transcription	Spleen	Spleen
20	chr5:179425000-179439400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr5:179425400-179428800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr5:179425600-179428200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:179425600-179428600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:179425600-179428800	Weak transcription	Colon Smooth Muscle	Colon
25	chr5:179425800-179428200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr5:179425800-179428200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:179425800-179428200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr5:179426000-179428200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:179426000-179428200	Weak transcription	HepG2	liver
30	chr5:179426000-179428400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr5:179426200-179428200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:179426200-179428200	Weak transcription	Ovary	ovary
33	chr5:179426200-179428800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr5:179426200-179440000	Weak transcription	Primary T cells from cord blood	blood
35	chr5:179426400-179428800	Weak transcription	Colonic Mucosa	Colon
36	chr5:179426400-179433400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:179426400-179438400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:179426400-179447200	Weak transcription	A549	lung
39	chr5:179426600-179428200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:179426600-179428600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:179426600-179428600	Weak transcription	Fetal Kidney	kidney
42	chr5:179426600-179433800	Weak transcription	Fetal Heart	heart
43	chr5:179426800-179428200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:179426800-179428200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr5:179426800-179428200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr5:179426800-179428400	Weak transcription	Brain Angular Gyrus	brain
47	chr5:179426800-179428800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:179426800-179428800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr5:179426800-179429000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr5:179426800-179429800	Strong transcription	HUES64 Cell Line	embryonic stem cell

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