Variant report

Variant	rs59809579
Chromosome Location	chr1:183931795-183931796
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:183930842..183933202-chr1:184020535..184023115,2	MCF-7	breast:
2	chr1:183925972..183927682-chr1:183929401..183931944,2	K562	blood:
3	chr1:183931592..183933438-chr1:183936287..183938147,2	K562	blood:

Variant related genes	Relation type
ENSG00000198860	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10911479	1.00[EUR][1000 genomes]
rs13373873	1.00[EUR][1000 genomes]
rs55658841	1.00[EUR][1000 genomes]
rs56279195	1.00[EUR][1000 genomes]
rs56905396	1.00[EUR][1000 genomes]
rs59041291	1.00[EUR][1000 genomes]
rs60817535	1.00[EUR][1000 genomes]
rs6689337	1.00[EUR][1000 genomes]
rs6689360	1.00[EUR][1000 genomes]
rs6696380	1.00[EUR][1000 genomes]
rs74130493	1.00[EUR][1000 genomes]
rs74130494	1.00[EUR][1000 genomes]
rs74130497	1.00[EUR][1000 genomes]
rs74130498	1.00[EUR][1000 genomes]
rs74130979	1.00[EUR][1000 genomes]
rs74130983	1.00[EUR][1000 genomes]
rs74130984	1.00[EUR][1000 genomes]
rs74130991	1.00[EUR][1000 genomes]
rs7518746	1.00[EUR][1000 genomes]
rs7534028	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832026	chr1:183785065-183961847	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv533206	chr1:183861204-184091272	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised 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	8 gene(s)	inside rSNPs	diseases
4	nsv1006655	chr1:183922288-184186677	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:183902600-183965200	Weak transcription	Left Ventricle	heart
2	chr1:183912600-183933000	Weak transcription	Psoas Muscle	Psoas
3	chr1:183913000-183944800	Weak transcription	Fetal Stomach	stomach
4	chr1:183919200-183937600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:183920000-183935600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:183920000-183936800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:183920200-183931800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:183920200-183941000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:183920200-183952600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:183922200-183937200	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:183922600-183937400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr1:183922600-183937600	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:183922600-183940000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:183923000-183940600	Weak transcription	Colon Smooth Muscle	Colon
15	chr1:183923200-183940400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:183923200-183961000	Weak transcription	Pancreas	Pancrea
17	chr1:183924000-183935600	Weak transcription	Esophagus	oesophagus
18	chr1:183924200-183937600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:183926200-183934800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr1:183926200-183940000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:183926600-183935600	Weak transcription	HSMM	muscle
22	chr1:183926600-183935600	Weak transcription	NHDF-Ad	bronchial
23	chr1:183926600-183952200	Weak transcription	NHLF	lung
24	chr1:183926800-183937200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:183927200-183932200	Weak transcription	K562	blood
26	chr1:183927400-183931800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:183927600-183935600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:183928000-183935800	Weak transcription	Brain Anterior Caudate	brain
29	chr1:183928800-183939600	Weak transcription	Right Atrium	heart
30	chr1:183929000-183932200	Weak transcription	Brain Substantia Nigra	brain
31	chr1:183929200-183935800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:183929600-183935000	Strong transcription	Brain Hippocampus Middle	brain
33	chr1:183930000-183935000	Strong transcription	Brain Cingulate Gyrus	brain
34	chr1:183930400-183935600	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr1:183930800-183941000	Weak transcription	Fetal Kidney	kidney
36	chr1:183931000-183935600	Weak transcription	HSMMtube	muscle
37	chr1:183931200-183932000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:183931200-183937400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:183931400-183932000	Weak transcription	Osteobl	bone
40	chr1:183931400-183935600	Strong transcription	Brain Angular Gyrus	brain

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