Variant report

Variant	rs60099048
Chromosome Location	chr18:43975587-43975588
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43969322..43971831-chr18:43973623..43976426,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16978543	1.00[AMR][1000 genomes]
rs16978544	1.00[AMR][1000 genomes]
rs16978555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16978556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55701724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60121328	1.00[AMR][1000 genomes]
rs61617924	1.00[AMR][1000 genomes]
rs7237569	1.00[AMR][1000 genomes]
rs7239657	1.00[AMR][1000 genomes]
rs73953836	1.00[AMR][1000 genomes]
rs73953838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953839	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953845	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953846	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953847	0.81[AFR][1000 genomes]
rs8088778	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv576812	chr18:43946837-43976847	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv3326438	chr18:43974654-43980152	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43939400-43976600	Weak transcription	Hela-S3	cervix
2	chr18:43956400-43978400	Weak transcription	Liver	Liver
3	chr18:43964400-43980800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr18:43967800-43981000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:43968000-43980000	Weak transcription	Brain Germinal Matrix	brain
6	chr18:43968200-43975800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr18:43968200-43977000	Weak transcription	Adipose Nuclei	Adipose
8	chr18:43968800-43981400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr18:43969200-43985200	Weak transcription	Right Atrium	heart
10	chr18:43969400-43977800	Weak transcription	Fetal Heart	heart
11	chr18:43970000-43977200	Weak transcription	Dnd41	blood
12	chr18:43970000-43977800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr18:43970000-43979200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr18:43971400-43976600	Weak transcription	Esophagus	oesophagus
15	chr18:43971800-43976400	Strong transcription	Fetal Brain Female	brain
16	chr18:43972200-43977800	Weak transcription	Fetal Lung	lung
17	chr18:43972200-43979200	Weak transcription	Fetal Brain Male	brain
18	chr18:43973600-43991400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr18:43973800-43975800	Weak transcription	Right Ventricle	heart
20	chr18:43974000-43976800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr18:43974000-43978400	Weak transcription	Fetal Stomach	stomach
22	chr18:43974200-43977200	Weak transcription	GM12878-XiMat	blood
23	chr18:43974200-43990400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr18:43974400-43977200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr18:43974600-43975800	Strong transcription	Fetal Muscle Trunk	muscle
26	chr18:43974600-43979000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr18:43974600-43980000	Weak transcription	Left Ventricle	heart
28	chr18:43974800-43975800	Weak transcription	Spleen	Spleen
29	chr18:43974800-43976600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr18:43975000-43977000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr18:43975000-43977000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr18:43975200-43983400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr18:43975400-43976400	Genic enhancers	Fetal Muscle Leg	muscle

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