Variant report

Variant	rs58974451
Chromosome Location	chr1:210865419-210865420
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210865100..210867541-chr1:210867654..210870691,4	K562	blood:
2	chr1:210863900..210866305-chr1:210870250..210872893,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12735867	0.95[EUR][1000 genomes]
rs12754319	0.95[EUR][1000 genomes]
rs17188444	0.93[EUR][1000 genomes]
rs17188465	0.95[EUR][1000 genomes]
rs17260648	0.93[EUR][1000 genomes]
rs34689382	0.93[EUR][1000 genomes]
rs34700735	0.89[EUR][1000 genomes]
rs34965460	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35007206	0.89[EUR][1000 genomes]
rs35063670	0.98[AFR][1000 genomes]
rs35288293	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35486198	0.89[EUR][1000 genomes]
rs35504217	0.95[EUR][1000 genomes]
rs35751839	0.89[EUR][1000 genomes]
rs35936572	0.89[EUR][1000 genomes]
rs61827458	0.93[EUR][1000 genomes]
rs61827459	0.89[EUR][1000 genomes]
rs61829465	0.95[EUR][1000 genomes]
rs73067442	0.85[AFR][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	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv873150	chr1:210808270-210893233	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv468083	chr1:210854815-210876192	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv549123	chr1:210854815-210876192	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210838000-210880400	Weak transcription	Gastric	stomach
2	chr1:210845400-210866000	Weak transcription	Spleen	Spleen
3	chr1:210846000-210865600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:210846200-210865800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:210846400-210884600	Weak transcription	Ovary	ovary
6	chr1:210857200-210882600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:210857800-210870800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:210858000-210880400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:210859800-210865600	Weak transcription	GM12878-XiMat	blood
10	chr1:210862000-210866000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr1:210863200-210865600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:210863200-210866800	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr1:210863800-210868000	Weak transcription	HSMM	muscle
14	chr1:210864000-210866000	Enhancers	Brain Cingulate Gyrus	brain
15	chr1:210864200-210866000	Enhancers	Brain Substantia Nigra	brain
16	chr1:210864200-210867200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:210864400-210865600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr1:210864400-210865800	Enhancers	Brain Hippocampus Middle	brain
19	chr1:210864400-210867400	Enhancers	Brain Anterior Caudate	brain
20	chr1:210864400-210889800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:210864600-210865800	Enhancers	Brain Angular Gyrus	brain
22	chr1:210864800-210865800	Enhancers	HSMMtube	muscle
23	chr1:210864800-210868600	Enhancers	Fetal Muscle Leg	muscle
24	chr1:210865200-210869800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:210865400-210866600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:210865400-210866800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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