Variant report

Variant	rs2621467
Chromosome Location	chr4:96285044-96285045
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10003526	0.85[ASN][1000 genomes]
rs10006102	0.85[ASN][1000 genomes]
rs10009125	0.86[ASN][1000 genomes]
rs10010074	0.88[ASN][1000 genomes]
rs10013989	0.88[ASN][1000 genomes]
rs10020354	0.88[ASN][1000 genomes]
rs10026678	0.92[ASN][1000 genomes]
rs10027175	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10029797	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10032662	0.88[ASN][1000 genomes]
rs10856912	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11727932	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11932445	0.92[ASN][1000 genomes]
rs13116085	0.83[ASN][1000 genomes]
rs13120566	0.88[ASN][1000 genomes]
rs13135470	0.88[ASN][1000 genomes]
rs13151463	0.86[ASN][1000 genomes]
rs13434678	0.86[ASN][1000 genomes]
rs1351769	0.83[ASN][1000 genomes]
rs1384869	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1483738	0.82[EUR][1000 genomes]
rs1483751	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1483753	0.91[ASN][1000 genomes]
rs1483755	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1580419	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1586164	0.92[ASN][1000 genomes]
rs1586166	0.92[ASN][1000 genomes]
rs1586167	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1843016	0.82[EUR][1000 genomes]
rs1843017	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1905457	0.88[ASN][1000 genomes]
rs1905458	0.88[ASN][1000 genomes]
rs1905459	0.88[ASN][1000 genomes]
rs1973244	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1973245	0.88[ASN][1000 genomes]
rs2035468	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2128915	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2128916	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2170780	0.91[ASN][1000 genomes]
rs2621440	0.91[ASN][1000 genomes]
rs2621447	0.88[ASN][1000 genomes]
rs2621460	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2621461	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2621464	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2626033	0.84[ASN][1000 genomes]
rs2626034	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2626037	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2626038	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2626043	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2626045	0.95[ASN][1000 genomes]
rs2626053	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2626070	0.96[ASN][1000 genomes]
rs2626072	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2626074	0.93[ASN][1000 genomes]
rs2626075	0.93[ASN][1000 genomes]
rs2626076	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28409980	0.93[ASN][1000 genomes]
rs28440878	0.93[ASN][1000 genomes]
rs28449226	0.93[ASN][1000 genomes]
rs28503338	0.83[ASN][1000 genomes]
rs2865444	0.88[ASN][1000 genomes]
rs2865445	0.88[ASN][1000 genomes]
rs2865446	0.88[ASN][1000 genomes]
rs2865448	0.87[EUR][1000 genomes]
rs34328980	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3919920	0.88[ASN][1000 genomes]
rs4130507	0.92[ASN][1000 genomes]
rs4235419	0.86[ASN][1000 genomes]
rs4699416	0.84[ASN][1000 genomes]
rs4699418	0.83[ASN][1000 genomes]
rs4699420	0.88[ASN][1000 genomes]
rs4699421	0.88[ASN][1000 genomes]
rs4699422	0.88[ASN][1000 genomes]
rs4699423	0.86[ASN][1000 genomes]
rs4699424	0.88[ASN][1000 genomes]
rs4699854	0.88[ASN][1000 genomes]
rs58661242	0.81[ASN][1000 genomes]
rs62307080	0.88[ASN][1000 genomes]
rs6532548	0.82[EUR][1000 genomes]
rs6532549	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6817365	0.90[ASN][1000 genomes]
rs6829578	0.80[EUR][1000 genomes]
rs6833714	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6842543	0.86[ASN][1000 genomes]
rs6843030	0.86[ASN][1000 genomes]
rs7667927	0.88[ASN][1000 genomes]
rs7668316	0.88[ASN][1000 genomes]
rs956159	0.88[ASN][1000 genomes]
rs988360	0.82[EUR][1000 genomes]
rs997464	0.97[ASN][1000 genomes]
rs9998511	0.88[ASN][1000 genomes]
rs9999811	0.88[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	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1001955	chr4:96216118-96445841	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96278800-96295600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:96281800-96285200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:96283400-96285200	Enhancers	Brain Germinal Matrix	brain
4	chr4:96283600-96285400	Enhancers	Fetal Stomach	stomach
5	chr4:96284200-96285400	Flanking Active TSS	Brain Hippocampus Middle	brain
6	chr4:96284200-96285600	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr4:96284400-96285200	Enhancers	Aorta	Aorta
8	chr4:96284400-96285200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr4:96284400-96285400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr4:96284400-96285400	Enhancers	Colon Smooth Muscle	Colon
11	chr4:96284400-96285400	Enhancers	HUVEC	blood vessel
12	chr4:96284400-96291600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr4:96284600-96285400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:96284600-96285400	Enhancers	Ovary	ovary
15	chr4:96284600-96285600	Enhancers	Fetal Heart	heart
16	chr4:96284600-96285800	Enhancers	Fetal Kidney	kidney
17	chr4:96284800-96285200	Flanking Active TSS	Brain Angular Gyrus	brain
18	chr4:96284800-96285400	Flanking Active TSS	Brain Cingulate Gyrus	brain
19	chr4:96284800-96285400	Enhancers	Pancreas	Pancrea
20	chr4:96284800-96285400	Enhancers	NH-A	brain
21	chr4:96284800-96285600	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr4:96284800-96285600	Enhancers	Osteobl	bone
23	chr4:96284800-96285800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr4:96285000-96285400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:96285000-96285400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:96285000-96285400	Flanking Active TSS	Brain Substantia Nigra	brain
27	chr4:96285000-96285400	Enhancers	Fetal Lung	lung
28	chr4:96285000-96285800	Enhancers	Brain Inferior Temporal Lobe	brain

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