Variant report

Variant	rs344000
Chromosome Location	chr3:156452486-156452487
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:156443136..156445606-chr3:156450244..156452824,2	MCF-7	breast:
2	chr3:156452267..156455053-chr3:156462475..156465167,2	K562	blood:
3	chr3:156444709..156446238-chr3:156450175..156452710,2	K562	blood:

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

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

rs_ID	r²[population]
rs11710516	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1355280	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1397194	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1397195	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1510269	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1510270	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168245	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs168295	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs171077	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs180746	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs180747	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs182935	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs182936	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs184677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1858229	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs186928	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs193423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2054881	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2129909	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2136691	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2136692	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs237245	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs237246	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2665390	0.89[ASN][1000 genomes]
rs343991	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs343992	0.83[ASN][1000 genomes]
rs343995	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs343996	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs343997	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs343998	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344001	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344005	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344006	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344008	0.89[ASN][1000 genomes]
rs344009	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344010	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344011	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344012	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344013	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344014	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344015	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344017	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344023	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs344029	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs344032	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344047	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs344048	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs344049	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs344050	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs344052	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344055	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344058	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344059	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344060	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344061	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs344062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344063	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs344064	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344065	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344066	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344068	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344070	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs345987	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs419287	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs427384	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4279048	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4429586	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4679784	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4680297	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4680298	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4680299	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5012666	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6441089	0.83[AMR][1000 genomes]
rs6441092	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6441093	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6441094	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6441095	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6799457	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7640593	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs871232	0.83[AMR][1000 genomes]
rs871233	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs907063	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs931990	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs978108	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs978109	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9823112	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9833951	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9877043	0.83[AMR][1000 genomes];0.87[EUR][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	nsv428745	chr3:156405054-156577840	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv877685	chr3:156444383-156611676	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156445600-156459600	Weak transcription	Brain Substantia Nigra	brain
2	chr3:156446400-156454000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:156446400-156464600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:156446400-156467000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:156447800-156453000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr3:156447800-156457400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:156447800-156457400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:156447800-156464200	Weak transcription	HSMM	muscle
9	chr3:156447800-156464600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:156447800-156465000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr3:156447800-156467000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:156448200-156462800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:156448200-156464200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:156448400-156464600	Weak transcription	NHEK	skin
15	chr3:156450200-156455600	Weak transcription	Fetal Intestine Large	intestine
16	chr3:156450200-156455600	Weak transcription	Fetal Intestine Small	intestine
17	chr3:156450400-156459200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:156450800-156458600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:156450800-156461600	Weak transcription	HepG2	liver
20	chr3:156451000-156454200	Weak transcription	HSMMtube	muscle
21	chr3:156451000-156455400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:156452000-156453000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:156452000-156453200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:156452400-156453000	Enhancers	Cortex derived primary cultured neurospheres	brain

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