Variant report

Variant	rs59566858
Chromosome Location	chr5:179212520-179212521
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179210097..179212795-chr5:179213653..179217175,3	MCF-7	breast:
2	chr5:179206337..179209276-chr5:179211151..179214245,3	K562	blood:
3	chr5:179211965..179215539-chr5:179247804..179250502,3	K562	blood:
4	chr5:179201693..179205348-chr5:179210724..179213200,3	MCF-7	breast:
5	chr5:179210375..179212924-chr5:179213806..179215338,2	K562	blood:
6	chr5:179210986..179213138-chr5:179230551..179233215,3	K562	blood:
7	chr5:179209719..179212653-chr5:179217734..179221028,3	K562	blood:

Variant related genes	Relation type
ENSG00000161013	Chromatin interaction
ENSG00000213316	Chromatin interaction
ENSG00000161011	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs55800082	0.88[AFR][1000 genomes]
rs55915939	0.96[AFR][1000 genomes]
rs55967209	0.96[AFR][1000 genomes]
rs56093222	0.96[AFR][1000 genomes]
rs56719864	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57463529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58722253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59108011	0.88[AFR][1000 genomes]
rs59651103	1.00[AFR][1000 genomes]
rs59680418	1.00[AMR][1000 genomes]
rs59721505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59745533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59824837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60485189	0.96[AFR][1000 genomes]
rs60716268	0.96[AFR][1000 genomes]
rs60910702	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61682673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs66685266	0.96[AFR][1000 genomes]
rs66686562	0.96[AFR][1000 genomes]
rs67211456	0.96[AFR][1000 genomes]
rs67637906	0.96[AFR][1000 genomes]
rs67832593	0.96[AFR][1000 genomes]
rs67952129	0.96[AFR][1000 genomes]
rs6887072	1.00[AMR][1000 genomes]
rs72807328	0.88[AFR][1000 genomes]
rs73338111	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73338115	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73342164	1.00[AMR][1000 genomes]
rs73342167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73347986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73349908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73351608	0.81[AFR][1000 genomes]
rs73351620	0.88[AFR][1000 genomes]
rs73351626	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73351628	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	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
4	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
5	nsv883274	chr5:179186397-179310330	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv518964	chr5:179193598-179227286	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
7	nsv883275	chr5:179193598-179267783	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
8	nsv883276	chr5:179193598-179310330	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
9	nsv883277	chr5:179193598-179350387	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179199800-179214000	Weak transcription	Fetal Brain Male	brain
2	chr5:179202000-179221800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:179203400-179213400	Weak transcription	Psoas Muscle	Psoas
4	chr5:179203400-179218200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:179203400-179221600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:179203600-179219600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr5:179203600-179220400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:179203600-179222000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:179204000-179221200	Weak transcription	Small Intestine	intestine
10	chr5:179205000-179218800	Weak transcription	Right Atrium	heart
11	chr5:179205200-179220600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr5:179205200-179221800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:179206000-179220200	Weak transcription	Ovary	ovary
14	chr5:179206400-179214600	Weak transcription	HepG2	liver
15	chr5:179206400-179219200	Weak transcription	Gastric	stomach
16	chr5:179207000-179220200	Weak transcription	GM12878-XiMat	blood
17	chr5:179207200-179215200	Weak transcription	HSMMtube	muscle
18	chr5:179207200-179218600	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:179207200-179218800	Weak transcription	Adipose Nuclei	Adipose
20	chr5:179207200-179220600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr5:179207400-179212600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:179207400-179215200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:179207400-179218600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:179207400-179219400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:179207400-179221000	Weak transcription	Brain Substantia Nigra	brain
26	chr5:179207600-179212600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr5:179207600-179213000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr5:179207600-179213400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr5:179207600-179218800	Weak transcription	Fetal Lung	lung
30	chr5:179207600-179219200	Weak transcription	Colonic Mucosa	Colon
31	chr5:179207600-179219400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:179207600-179219400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr5:179207600-179220000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:179207600-179220200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr5:179207600-179220200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr5:179207600-179220200	Weak transcription	Pancreas	Pancrea
37	chr5:179207600-179220600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr5:179207600-179220800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr5:179207600-179221200	Weak transcription	Fetal Intestine Large	intestine
40	chr5:179207600-179222200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:179207600-179222600	Weak transcription	Aorta	Aorta
42	chr5:179207800-179215200	Weak transcription	Liver	Liver
43	chr5:179207800-179216200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:179207800-179218200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:179207800-179219200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr5:179207800-179220200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr5:179207800-179220200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:179207800-179220400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr5:179207800-179220400	Weak transcription	Brain Angular Gyrus	brain
50	chr5:179207800-179220400	Weak transcription	HSMM	muscle

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