Variant report

Variant	rs2323649
Chromosome Location	chr6:82731761-82731762
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10455398	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1361690	0.98[EUR][1000 genomes]
rs1418304	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1418305	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1573033	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1832870	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1891345	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4706151	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4706153	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4706919	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6911435	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6939743	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775010	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];0.82[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	nsv1020783	chr6:82720632-82732325	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1021793	chr6:82720632-82737456	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1034389	chr6:82721569-82746599	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1020964	chr6:82725168-82737456	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2323649	PGM3	cis	cerebellum	SCAN
rs2323649	TPBG	cis	cerebellum	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:82725400-82731800	Weak transcription	NH-A	brain
2	chr6:82727200-82732200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:82727200-82732200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:82727400-82732000	Weak transcription	A549	lung
5	chr6:82727400-82732000	Weak transcription	HepG2	liver
6	chr6:82727400-82732200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr6:82727400-82732400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:82727600-82732200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:82727800-82731800	Weak transcription	Fetal Intestine Small	intestine
10	chr6:82727800-82732000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr6:82727800-82732000	Weak transcription	Placenta	Placenta
12	chr6:82727800-82732000	Weak transcription	HSMM	muscle
13	chr6:82727800-82732200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:82727800-82732200	Weak transcription	HSMMtube	muscle
15	chr6:82728000-82732000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:82728000-82732000	Weak transcription	NHLF	lung
17	chr6:82728000-82733200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:82728200-82731800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:82728400-82732000	Weak transcription	Osteobl	bone
20	chr6:82728600-82732200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:82729600-82733000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr6:82730200-82732000	Enhancers	NHEK	skin
23	chr6:82730600-82731800	Weak transcription	NHDF-Ad	bronchial
24	chr6:82730800-82731800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr6:82731200-82733800	Enhancers	HMEC	breast
26	chr6:82731200-82734000	Enhancers	HUVEC	blood vessel
27	chr6:82731400-82733400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:82731400-82733600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:82731400-82733800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:82731600-82732200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:82731600-82732200	Enhancers	Fetal Heart	heart
32	chr6:82731600-82733000	Enhancers	Fetal Intestine Large	intestine
33	chr6:82731600-82733400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:82731600-82733400	Enhancers	Hela-S3	cervix
35	chr6:82731600-82734000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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