Variant report

Variant	rs12607371
Chromosome Location	chr18:43971974-43971975
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12607970	0.86[EUR][1000 genomes]
rs12608433	0.86[EUR][1000 genomes]
rs12956271	0.97[EUR][1000 genomes]
rs12965332	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16978558	0.80[EUR][1000 genomes]
rs34026934	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34139708	0.86[EUR][1000 genomes]
rs34311565	0.88[EUR][1000 genomes]
rs34960770	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35025356	0.80[EUR][1000 genomes]
rs35927866	0.82[AFR][1000 genomes]
rs35939778	0.80[EUR][1000 genomes]
rs36020946	0.86[EUR][1000 genomes]
rs57027858	0.88[EUR][1000 genomes]
rs58223751	0.80[EUR][1000 genomes]
rs58843633	0.88[EUR][1000 genomes]
rs7229614	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7236110	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9949861	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

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	chr18:43949400-43972600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:43956400-43978400	Weak transcription	Liver	Liver
4	chr18:43963000-43972600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr18:43964400-43980800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr18:43967200-43972600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:43967800-43981000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:43968000-43980000	Weak transcription	Brain Germinal Matrix	brain
9	chr18:43968200-43972400	Weak transcription	Right Ventricle	heart
10	chr18:43968200-43975800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr18:43968200-43977000	Weak transcription	Adipose Nuclei	Adipose
12	chr18:43968600-43972400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr18:43968600-43974000	Weak transcription	Left Ventricle	heart
14	chr18:43968800-43972200	Weak transcription	Fetal Stomach	stomach
15	chr18:43968800-43981400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr18:43969200-43972000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr18:43969200-43972800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr18:43969200-43985200	Weak transcription	Right Atrium	heart
19	chr18:43969400-43977800	Weak transcription	Fetal Heart	heart
20	chr18:43970000-43973600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr18:43970000-43977200	Weak transcription	Dnd41	blood
22	chr18:43970000-43977800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr18:43970000-43979200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr18:43970400-43974400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr18:43970800-43972200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr18:43971000-43973200	Strong transcription	Fetal Muscle Leg	muscle
27	chr18:43971200-43974200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr18:43971400-43976600	Weak transcription	Esophagus	oesophagus
29	chr18:43971600-43972200	Strong transcription	Fetal Brain Male	brain
30	chr18:43971600-43972200	Strong transcription	Fetal Lung	lung
31	chr18:43971800-43972200	ZNF genes & repeats	Fetal Kidney	kidney
32	chr18:43971800-43974800	Enhancers	Spleen	Spleen
33	chr18:43971800-43976400	Strong transcription	Fetal Brain Female	brain

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