Variant report

Variant	rs74130984
Chromosome Location	chr1:183974668-183974669
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:183971472..183974918-chr1:183978540..183982820,5	K562	blood:
2	chr1:183971721..183974918-chr1:183978540..183981272,3	K562	blood:
3	chr1:183971073..183972712-chr1:183973547..183976840,3	K562	blood:
4	chr1:183972816..183975715-chr17:7485961..7488756,2	K562	blood:
5	chr1:183967387..183970821-chr1:183971307..183974997,4	K562	blood:

Variant related genes	Relation type
ENSG00000233223	Chromatin interaction
ENSG00000129255	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]
rs74130494	1.00[AFR][1000 genomes];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]
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	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:183971000-183975000	Enhancers	Brain Anterior Caudate	brain
2	chr1:183971600-183977600	Weak transcription	Gastric	stomach
3	chr1:183971600-183978800	Weak transcription	Right Ventricle	heart
4	chr1:183972000-183975000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:183972400-183983000	Weak transcription	NHDF-Ad	bronchial
6	chr1:183972600-183975200	Enhancers	Brain Cingulate Gyrus	brain
7	chr1:183972600-183975800	Weak transcription	Left Ventricle	heart
8	chr1:183972600-183976200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:183972600-183980600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:183972600-183987800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:183973800-183974800	Enhancers	Brain Angular Gyrus	brain
12	chr1:183973800-183975000	Enhancers	Fetal Muscle Leg	muscle
13	chr1:183973800-183975600	Enhancers	K562	blood
14	chr1:183974200-183975000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
15	chr1:183974200-183975000	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:183974200-183975600	Enhancers	Fetal Muscle Trunk	muscle
17	chr1:183974200-183977000	Enhancers	Brain Substantia Nigra	brain
18	chr1:183974600-183976000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:183974600-183979400	Weak transcription	Brain Hippocampus Middle	brain

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