Variant report

Variant	rs74130991
Chromosome Location	chr1:183980898-183980899
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:183958599..183960225-chr1:183979032..183981133,2	K562	blood:
2	chr1:183971721..183974918-chr1:183978540..183981272,3	K562	blood:
3	chr1:183971472..183974918-chr1:183978540..183982820,5	K562	blood:
4	chr1:183978007..183980977-chr1:183981076..183984748,5	K562	blood:
5	chr1:183975497..183978349-chr1:183979373..183981183,2	MCF-7	breast:

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[EUR][1000 genomes]
rs59809579	1.00[EUR][1000 genomes]
rs60817535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6689337	1.00[EUR][1000 genomes]
rs6689360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6696380	1.00[EUR][1000 genomes]
rs74130493	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74130494	1.00[EUR][1000 genomes]
rs74130497	1.00[AMR][1000 genomes];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]
rs7518746	1.00[EUR][1000 genomes]
rs7526592	1.00[AMR][1000 genomes]
rs7534028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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	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
2	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
3	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
4	nsv872583	chr1:183955574-184015663	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:183972400-183983000	Weak transcription	NHDF-Ad	bronchial
2	chr1:183972600-183987800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:183974800-183981600	Weak transcription	Brain Angular Gyrus	brain
4	chr1:183975200-183981600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:183976200-183990200	Weak transcription	K562	blood
6	chr1:183976800-183984600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:183978600-183982000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr1:183980200-183981000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:183980200-183981200	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:183980200-183986600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:183980600-183982600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:183980800-183984400	Weak transcription	Brain Substantia Nigra	brain

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