Variant report

Variant	rs6679341
Chromosome Location	chr1:171848882-171848883
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1015008	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1022541	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1040517	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10737337	0.86[ASN][1000 genomes]
rs10737338	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10753202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10753203	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10753204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10753205	0.85[ASN][1000 genomes]
rs1076700	0.85[ASN][1000 genomes]
rs10798695	0.85[ASN][1000 genomes]
rs10798701	0.85[ASN][1000 genomes]
rs10798702	0.85[ASN][1000 genomes]
rs10798705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10798706	0.82[ASN][1000 genomes]
rs10798716	0.85[ASN][1000 genomes]
rs10798722	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798726	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1118173	0.85[ASN][1000 genomes]
rs12021814	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12024869	0.85[EUR][1000 genomes]
rs12025243	0.82[EUR][1000 genomes]
rs12029015	0.84[EUR][1000 genomes]
rs12040254	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12047542	0.85[EUR][1000 genomes]
rs12239702	0.81[ASN][1000 genomes]
rs12405583	0.85[ASN][1000 genomes]
rs12747663	0.85[EUR][1000 genomes]
rs1535301	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1555100	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1972340	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1980488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145383	0.84[EUR][1000 genomes]
rs2206543	0.85[ASN][1000 genomes]
rs2235696	0.85[ASN][1000 genomes]
rs2421915	0.85[ASN][1000 genomes]
rs2421947	0.85[ASN][1000 genomes]
rs2901600	0.85[ASN][1000 genomes]
rs34906981	0.91[EUR][1000 genomes]
rs4500358	0.85[ASN][1000 genomes]
rs4596936	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4916235	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4916400	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4916401	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4916402	0.85[ASN][1000 genomes]
rs4916403	0.85[ASN][1000 genomes]
rs4916404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916411	0.91[EUR][1000 genomes]
rs6425454	0.85[ASN][1000 genomes]
rs6425455	0.85[ASN][1000 genomes]
rs6425456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6425468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425484	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6425518	0.84[EUR][1000 genomes]
rs6657315	0.85[ASN][1000 genomes]
rs6660011	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6665335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6683945	0.85[ASN][1000 genomes]
rs6685974	0.85[ASN][1000 genomes]
rs6686260	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6689231	0.88[EUR][1000 genomes]
rs6690848	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6702944	0.85[ASN][1000 genomes]
rs71523161	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs742509	0.85[ASN][1000 genomes]
rs742510	0.85[ASN][1000 genomes]
rs7514627	0.85[ASN][1000 genomes]
rs7517331	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7526653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7554700	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7554935	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs926545	0.85[ASN][1000 genomes]
rs926546	0.84[ASN][1000 genomes]
rs965051	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv831893	chr1:171802450-171985000	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171828400-171850800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:171844400-171858200	Weak transcription	Left Ventricle	heart
3	chr1:171846800-171850600	Weak transcription	Fetal Intestine Small	intestine
4	chr1:171847000-171850600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:171847000-171850600	Weak transcription	HSMMtube	muscle
6	chr1:171847200-171849000	Weak transcription	Brain Anterior Caudate	brain
7	chr1:171847200-171850600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:171847600-171850400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:171847800-171853600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:171848200-171849200	Enhancers	Brain Angular Gyrus	brain
11	chr1:171848200-171849400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:171848200-171849400	Enhancers	Brain Substantia Nigra	brain
13	chr1:171848400-171849000	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:171848800-171849400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr1:171848800-171849800	Enhancers	Cortex derived primary cultured neurospheres	brain

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