Variant report

Variant	rs59836200
Chromosome Location	chr2:11829527-11829528
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11683416..11684960-chr2:11826998..11829843,2	MCF-7	breast:
2	chr2:11827607..11830089-chr2:11831192..11833222,2	K562	blood:
3	chr2:11622770..11625345-chr2:11826653..11829595,2	MCF-7	breast:
4	chr2:11828699..11830318-chr2:11834371..11836055,2	K562	blood:
5	chr2:11827483..11829689-chr2:11917659..11919451,2	MCF-7	breast:
6	chr2:11828589..11830504-chr2:11831137..11833222,3	K562	blood:
7	chr2:11794181..11796094-chr2:11829058..11830881,2	K562	blood:
8	chr2:11617820..11619664-chr2:11828813..11830346,2	MCF-7	breast:
9	chr2:11827992..11829682-chr2:11882728..11885708,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230790	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10183250	1.00[EUR][1000 genomes]
rs11886664	1.00[EUR][1000 genomes]
rs11890221	1.00[EUR][1000 genomes]
rs11895768	1.00[EUR][1000 genomes]
rs13420559	1.00[EUR][1000 genomes]
rs13421766	1.00[EUR][1000 genomes]
rs13424731	1.00[EUR][1000 genomes]
rs16857649	1.00[EUR][1000 genomes]
rs16857699	1.00[EUR][1000 genomes]
rs55736020	1.00[EUR][1000 genomes]
rs56352405	1.00[EUR][1000 genomes]
rs56820808	1.00[EUR][1000 genomes]
rs56834951	1.00[EUR][1000 genomes]
rs57251854	1.00[EUR][1000 genomes]
rs57779431	1.00[EUR][1000 genomes]
rs58686966	1.00[EUR][1000 genomes]
rs59101452	1.00[EUR][1000 genomes]
rs59157966	1.00[EUR][1000 genomes]
rs59416046	1.00[EUR][1000 genomes]
rs60798771	1.00[EUR][1000 genomes]
rs61382095	1.00[EUR][1000 genomes]
rs6745921	1.00[EUR][1000 genomes]
rs73185109	1.00[EUR][1000 genomes]
rs73917104	1.00[EUR][1000 genomes]
rs73917107	1.00[EUR][1000 genomes]
rs73917124	1.00[EUR][1000 genomes]
rs73917127	1.00[EUR][1000 genomes]
rs7562399	1.00[EUR][1000 genomes]
rs7585718	1.00[EUR][1000 genomes]
rs7602962	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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats 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	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv469449	chr2:11808654-11854012	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv580972	chr2:11808654-11854012	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv527025	chr2:11823585-11833459	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11827800-11829600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr2:11828800-11829600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr2:11828800-11833400	Weak transcription	Colonic Mucosa	Colon
4	chr2:11828800-11833400	Weak transcription	Pancreas	Pancrea
5	chr2:11828800-11836800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:11829000-11829600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:11829000-11833200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:11829000-11833200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:11829000-11833200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:11829000-11836600	Weak transcription	Fetal Thymus	thymus
11	chr2:11829000-11836600	Weak transcription	Right Atrium	heart
12	chr2:11829000-11836800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:11829200-11829600	Enhancers	Adipose Nuclei	Adipose
14	chr2:11829200-11830200	Enhancers	Psoas Muscle	Psoas
15	chr2:11829200-11831000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr2:11829200-11831200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:11829200-11833000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr2:11829200-11833000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr2:11829200-11833000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr2:11829200-11833000	Weak transcription	Liver	Liver
21	chr2:11829200-11833200	Weak transcription	Placenta	Placenta
22	chr2:11829200-11833200	Weak transcription	K562	blood
23	chr2:11829200-11833400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr2:11829200-11833400	Weak transcription	Fetal Intestine Large	intestine
25	chr2:11829200-11836000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr2:11829200-11836400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:11829200-11836600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:11829200-11836600	Weak transcription	Brain Hippocampus Middle	brain
29	chr2:11829200-11836800	Weak transcription	HUVEC	blood vessel
30	chr2:11829200-11837000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:11829200-11837000	Weak transcription	HSMM	muscle
32	chr2:11829200-11838400	Weak transcription	Fetal Lung	lung
33	chr2:11829400-11829600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr2:11829400-11829600	Enhancers	Hela-S3	cervix
35	chr2:11829400-11830600	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr2:11829400-11831200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr2:11829400-11833200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:11829400-11833200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:11829400-11833200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr2:11829400-11833200	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:11829400-11833200	Weak transcription	Ovary	ovary
42	chr2:11829400-11833200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:11829400-11833200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr2:11829400-11833200	Weak transcription	A549	lung
45	chr2:11829400-11833200	Weak transcription	Dnd41	blood
46	chr2:11829400-11833200	Weak transcription	NHDF-Ad	bronchial
47	chr2:11829400-11836400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:11829400-11836600	Weak transcription	Brain Anterior Caudate	brain
49	chr2:11829400-11836600	Weak transcription	NHEK	skin
50	chr2:11829400-11836800	Weak transcription	Brain Substantia Nigra	brain

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