Variant report

Variant	rs74130494
Chromosome Location	chr1:183951371-183951372
allele	C/G
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:183950714..183953457-chr1:184019410..184021157,2	K562	blood:
2	chr1:183943394..183945355-chr1:183948434..183952348,4	K562	blood:
3	chr1:183950977..183955895-chr1:183999343..184002420,4	K562	blood:
4	chr1:183951094..183952829-chr1:183954460..183956370,2	K562	blood:
5	chr1:183950977..183953619-chr1:184000734..184002420,2	K562	blood:
6	chr1:183947929..183952314-chr1:184019295..184023584,6	K562	blood:
7	chr1:183949335..183951538-chr1:184016784..184019314,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198860	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

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[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59809579	1.00[EUR][1000 genomes]
rs60313520	1.00[AFR][1000 genomes]
rs60817535	1.00[EUR][1000 genomes]
rs6689337	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6689360	1.00[EUR][1000 genomes]
rs6696380	1.00[EUR][1000 genomes]
rs74130493	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[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74130984	1.00[AFR][1000 genomes];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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:183902600-183965200	Weak transcription	Left Ventricle	heart
2	chr1:183920200-183952600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:183923200-183961000	Weak transcription	Pancreas	Pancrea
4	chr1:183926600-183952200	Weak transcription	NHLF	lung
5	chr1:183938000-183952200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:183938400-183952200	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:183938600-183952800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:183945000-183952400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:183948600-183951600	Weak transcription	Brain Angular Gyrus	brain
10	chr1:183948800-183951400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:183948800-183952000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:183949000-183952200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:183950800-183954800	Weak transcription	Right Atrium	heart
14	chr1:183951200-183952200	Enhancers	Brain Hippocampus Middle	brain
15	chr1:183951200-183952200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr1:183951200-183952400	Enhancers	Brain Anterior Caudate	brain
17	chr1:183951200-183952400	Enhancers	Brain Cingulate Gyrus	brain
18	chr1:183951200-183952400	Enhancers	Brain Substantia Nigra	brain
19	chr1:183951200-183953000	Enhancers	K562	blood

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