Variant report

Variant	rs72950194
Chromosome Location	chr3:116108952-116108953
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10511356	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11925640	0.93[EUR][1000 genomes]
rs11927240	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16824815	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17645771	0.88[EUR][1000 genomes]
rs17646114	0.90[EUR][1000 genomes]
rs17646126	0.90[EUR][1000 genomes]
rs17646294	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17646747	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17702489	0.88[EUR][1000 genomes]
rs17702536	0.88[EUR][1000 genomes]
rs1920188	0.83[AFR][1000 genomes]
rs2116307	0.89[EUR][1000 genomes]
rs28590146	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34419229	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41457247	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59313401	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59428849	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60148139	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6771542	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6782605	0.95[EUR][1000 genomes]
rs72950173	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72950188	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72950190	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72950202	0.90[EUR][1000 genomes]
rs72951910	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72951915	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72951916	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72951935	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72951938	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7433207	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7619749	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7630573	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877361	chr3:116017931-116138039	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv437338	chr3:116076289-116110635	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv2757005	chr3:116085678-116121948	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	esv2759170	chr3:116085678-116121948	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1014989	chr3:116096198-116109192	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1003543	chr3:116096198-116111430	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3463484	chr3:116098674-116110408	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3463485	chr3:116098674-116110408	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv21066	chr3:116098946-116109977	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv1011591	chr3:116099041-116109192	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	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	chr3:116103000-116142000	Weak transcription	Fetal Lung	lung
2	chr3:116103800-116110600	Weak transcription	Brain Germinal Matrix	brain
3	chr3:116105000-116110200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:116107000-116109000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr3:116107000-116109600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr3:116107200-116109800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:116107200-116109800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr3:116107400-116109200	Enhancers	Colon Smooth Muscle	Colon
9	chr3:116107400-116110000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:116108000-116110400	Weak transcription	Fetal Brain Male	brain
11	chr3:116108000-116113400	Weak transcription	Brain Angular Gyrus	brain
12	chr3:116108200-116109200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr3:116108200-116110600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr3:116108200-116110600	Weak transcription	Fetal Stomach	stomach
15	chr3:116108200-116115200	Weak transcription	Brain Anterior Caudate	brain
16	chr3:116108400-116109400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr3:116108400-116112800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:116108400-116113400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr3:116108400-116113600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr3:116108600-116109200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr3:116108600-116109600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr3:116108600-116110600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr3:116108600-116110800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:116108600-116113200	Weak transcription	Brain Substantia Nigra	brain
25	chr3:116108600-116113800	Weak transcription	Brain Hippocampus Middle	brain
26	chr3:116108600-116114200	Weak transcription	Brain Cingulate Gyrus	brain

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