Variant report

Variant	rs780122
Chromosome Location	chr5:179949297-179949298
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	chr5:179910027..179911879-chr5:179947833..179949549,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10067718	0.92[EUR][1000 genomes]
rs10079660	0.94[EUR][1000 genomes]
rs10464062	0.90[EUR][1000 genomes]
rs2387282	0.87[EUR][1000 genomes]
rs2453179	0.94[EUR][1000 genomes]
rs2617261	0.94[EUR][1000 genomes]
rs4538575	0.90[EUR][1000 genomes]
rs56191102	0.92[EUR][1000 genomes]
rs7378616	0.94[EUR][1000 genomes]
rs7379383	0.83[EUR][1000 genomes]
rs7446752	0.92[EUR][1000 genomes]
rs780123	0.94[EUR][1000 genomes]
rs780124	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv1031836	chr5:179742033-180676122	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
6	nsv537984	chr5:179742033-180676122	Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
7	nsv949199	chr5:179743553-180696889	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
8	nsv1023537	chr5:179791679-179982822	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv537985	chr5:179791679-179982822	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv1019519	chr5:179866730-179959408	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv830564	chr5:179867394-180010096	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv519380	chr5:179942395-179951574	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv1810959	chr5:179945112-179997861	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179923600-179949800	Weak transcription	Gastric	stomach
2	chr5:179923600-179949800	Weak transcription	Psoas Muscle	Psoas
3	chr5:179923600-179957000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:179924000-179949800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:179924200-179949600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr5:179924200-179950000	Weak transcription	Brain Angular Gyrus	brain
7	chr5:179924600-179949800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:179924600-179957000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:179927000-179954400	Weak transcription	Hela-S3	cervix
10	chr5:179927400-179949600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:179929000-179959200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr5:179933800-179950000	Weak transcription	Colon Smooth Muscle	Colon
13	chr5:179933800-179959000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr5:179934200-179949600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:179934200-179956600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr5:179935000-179951000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr5:179935200-179951400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr5:179936800-179949600	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:179936800-179950000	Weak transcription	Fetal Stomach	stomach
20	chr5:179936800-179956200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr5:179938800-179956600	Weak transcription	HSMM	muscle
22	chr5:179942000-179951800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr5:179942000-179956400	Weak transcription	Brain Germinal Matrix	brain
24	chr5:179942000-179958800	Weak transcription	Esophagus	oesophagus
25	chr5:179942200-179949600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr5:179942400-179949600	Weak transcription	Spleen	Spleen
27	chr5:179942600-179950000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr5:179942600-179959000	Weak transcription	HepG2	liver
29	chr5:179942800-179954600	Weak transcription	Fetal Intestine Large	intestine
30	chr5:179943000-179949400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr5:179943200-179949600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr5:179943200-179954000	Weak transcription	Fetal Intestine Small	intestine
33	chr5:179945200-179949600	Weak transcription	Fetal Brain Male	brain
34	chr5:179945200-179951600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr5:179945400-179949600	Weak transcription	Fetal Lung	lung
36	chr5:179945600-179953400	Weak transcription	Dnd41	blood
37	chr5:179946000-179958400	Weak transcription	Lung	lung
38	chr5:179946200-179960800	Weak transcription	NHLF	lung
39	chr5:179946400-179949600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr5:179946400-179949600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr5:179946400-179949600	Weak transcription	Fetal Kidney	kidney
42	chr5:179946400-179949600	Weak transcription	Ovary	ovary
43	chr5:179946400-179949600	Weak transcription	Right Atrium	heart
44	chr5:179946400-179949800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr5:179946400-179950000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:179946400-179950000	Weak transcription	Adipose Nuclei	Adipose
47	chr5:179946400-179950400	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr5:179946400-179950400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr5:179946400-179956800	Weak transcription	Osteobl	bone
50	chr5:179946600-179949600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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