Variant report

Variant	rs6731789
Chromosome Location	chr2:15458651-15458652
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10167186	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10181295	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10193783	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10193872	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10199552	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10199885	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10206116	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1076509	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10803672	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10929355	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10929356	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10929357	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11686627	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11892206	0.94[ASN][1000 genomes]
rs11904635	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12613488	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12692259	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12993581	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12993786	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1318102	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1808361	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1974772	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1989380	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2020147	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2042144	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3755127	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3805093	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3805095	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3828463	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4465744	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4668889	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4668890	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4668891	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4668892	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4668893	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6431688	0.89[EUR][1000 genomes]
rs6431689	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6431690	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6431691	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6708720	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6711181	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6732362	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6738994	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6746672	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756029	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs721858	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7340328	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs741570	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7575687	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7584861	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598652	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7599455	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7605754	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs888636	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs929735	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs962616	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9711182	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9917271	0.82[EUR][1000 genomes];0.95[ASN][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	nsv515567	chr2:15004748-15906778	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv529077	chr2:15143950-15722947	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv948649	chr2:15273933-15572834	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2762245	chr2:15418054-15480441	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:15371400-15468400	Weak transcription	Esophagus	oesophagus
2	chr2:15375000-15469000	Weak transcription	Psoas Muscle	Psoas
3	chr2:15392400-15463400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:15399800-15470600	Weak transcription	HUVEC	blood vessel
5	chr2:15400600-15468400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:15401200-15469600	Weak transcription	Small Intestine	intestine
7	chr2:15416200-15478200	Weak transcription	NH-A	brain
8	chr2:15421000-15494800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:15426800-15473200	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:15426800-15520000	Weak transcription	Colonic Mucosa	Colon
11	chr2:15427400-15467800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr2:15427400-15470200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:15427600-15467800	Weak transcription	Brain Substantia Nigra	brain
14	chr2:15433000-15469000	Weak transcription	Fetal Brain Male	brain
15	chr2:15437400-15468200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:15437800-15467600	Weak transcription	A549	lung
17	chr2:15437800-15475800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:15439400-15467800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:15441000-15499800	Weak transcription	NHLF	lung
20	chr2:15441400-15463600	Weak transcription	Right Ventricle	heart
21	chr2:15442600-15468400	Weak transcription	Fetal Heart	heart
22	chr2:15442800-15462800	Weak transcription	Osteobl	bone
23	chr2:15442800-15467200	Weak transcription	NHDF-Ad	bronchial
24	chr2:15442800-15513600	Weak transcription	HSMMtube	muscle
25	chr2:15443200-15463200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:15443600-15469000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:15443800-15480600	Weak transcription	Fetal Kidney	kidney
28	chr2:15444400-15468800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:15445400-15467600	Weak transcription	Brain Anterior Caudate	brain
30	chr2:15445600-15463400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr2:15445600-15469200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:15445800-15463200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:15446000-15463000	Weak transcription	Left Ventricle	heart
34	chr2:15446800-15466000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:15447400-15466800	Weak transcription	HSMM	muscle
36	chr2:15447400-15467800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:15447400-15474800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:15447600-15467000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:15447600-15468400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr2:15447600-15472000	Weak transcription	Brain Germinal Matrix	brain
41	chr2:15448000-15468400	Weak transcription	HepG2	liver
42	chr2:15448200-15469800	Weak transcription	Placenta	Placenta
43	chr2:15448400-15468800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:15448600-15463200	Weak transcription	Ovary	ovary
45	chr2:15448600-15463200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr2:15448600-15463400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:15448800-15463200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:15448800-15465400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr2:15448800-15467200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr2:15448800-15474600	Weak transcription	NHEK	skin

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