Variant report

Variant	rs34311565
Chromosome Location	chr18:43975373-43975374
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	chr18:43969322..43971831-chr18:43973623..43976426,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12606026	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12607371	0.88[EUR][1000 genomes]
rs12607970	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12608433	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12956271	0.87[EUR][1000 genomes]
rs12956369	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12963221	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12965332	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16978558	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16978559	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34026934	0.88[EUR][1000 genomes]
rs34046291	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34139708	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34271155	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34472213	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34656919	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34960770	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35025356	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35044751	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35897092	0.81[ASN][1000 genomes]
rs35939778	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36020946	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3889942	0.84[EUR][1000 genomes]
rs57027858	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58223751	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58843633	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9635947	0.85[ASN][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	chr18:43974600-43975400	Strong transcription	Fetal Muscle Leg	muscle
26	chr18:43974600-43975800	Strong transcription	Fetal Muscle Trunk	muscle
27	chr18:43974600-43979000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr18:43974600-43980000	Weak transcription	Left Ventricle	heart
29	chr18:43974800-43975800	Weak transcription	Spleen	Spleen
30	chr18:43974800-43976600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr18:43975000-43977000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr18:43975000-43977000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr18:43975200-43983400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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