Variant report

Variant	rs2373486
Chromosome Location	chr7:87675501-87675502
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10235694	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10241669	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10266440	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10279744	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10279940	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10282572	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10435251	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10952906	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11770982	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11972409	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12669586	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12704375	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12704380	0.93[EUR][1000 genomes]
rs12704381	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1613737	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1623535	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1629569	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1631368	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1637487	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1637488	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1637489	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1637492	0.82[EUR][1000 genomes]
rs1637494	0.82[EUR][1000 genomes]
rs1637495	0.82[EUR][1000 genomes]
rs1637496	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1637497	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1637498	0.92[EUR][1000 genomes]
rs1637499	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1637500	0.80[EUR][1000 genomes]
rs1637502	0.88[EUR][1000 genomes]
rs1637503	0.90[EUR][1000 genomes]
rs1637504	0.88[EUR][1000 genomes]
rs1637505	0.86[EUR][1000 genomes]
rs1637506	0.87[EUR][1000 genomes]
rs1637508	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1688886	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1688887	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1688888	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1688890	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1688891	0.92[EUR][1000 genomes]
rs1688893	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1688894	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1688895	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1688896	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1688897	0.93[EUR][1000 genomes]
rs1688898	0.94[EUR][1000 genomes]
rs1688899	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1688901	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17150161	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2021741	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2022160	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2022163	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2022164	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2023533	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2024018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2024019	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2079422	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2079423	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2097917	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2158766	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2282948	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2282949	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2282951	0.87[AFR][1000 genomes]
rs2373487	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28432284	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28794871	0.87[EUR][1000 genomes]
rs4728718	0.90[EUR][1000 genomes]
rs56050913	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs56160917	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56897831	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58850563	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs59135798	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60069756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62486383	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6465124	0.86[EUR][1000 genomes]
rs6465126	0.81[EUR][1000 genomes]
rs6465127	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7786538	0.87[EUR][1000 genomes]
rs7802934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7803521	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7809391	0.81[EUR][1000 genomes]
rs9641021	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9641022	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1015862	chr7:87075394-88049798	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1023352	chr7:87418818-88192925	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539005	chr7:87418818-88192925	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv525073	chr7:87535096-87812968	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87674400-87675800	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr7:87674600-87675800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:87674800-87675600	Flanking Active TSS	Liver	Liver
4	chr7:87674800-87675600	Active TSS	Duodenum Mucosa	Duodenum
5	chr7:87674800-87675800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:87674800-87675800	Active TSS	Brain Substantia Nigra	brain
7	chr7:87674800-87675800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr7:87674800-87675800	Active TSS	GM12878-XiMat	blood
9	chr7:87674800-87676000	Enhancers	Colon Smooth Muscle	Colon
10	chr7:87674800-87676000	Enhancers	Fetal Lung	lung
11	chr7:87675000-87675600	Active TSS	Stomach Smooth Muscle	stomach
12	chr7:87675000-87675800	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr7:87675200-87675600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr7:87675200-87675600	Active TSS	Brain Hippocampus Middle	brain
15	chr7:87675200-87675600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr7:87675200-87675800	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr7:87675200-87676200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:87675200-87676400	Enhancers	Brain Anterior Caudate	brain
19	chr7:87675200-87676800	Enhancers	Fetal Heart	heart
20	chr7:87675400-87675600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:87675400-87675600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:87675400-87675600	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr7:87675400-87675800	Active TSS	Adipose Nuclei	Adipose
24	chr7:87675400-87676200	Weak transcription	Right Ventricle	heart
25	chr7:87675400-87676400	Enhancers	Fetal Intestine Large	intestine
26	chr7:87675400-87676400	Weak transcription	Fetal Intestine Small	intestine
27	chr7:87675400-87676800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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