Variant report

Variant	rs4352210
Chromosome Location	chr2:37750980-37750981
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37750494..37753126-chr2:37755282..37758180,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10084269	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10165975	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10177794	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10177859	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10180573	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10184286	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11124588	0.93[ASN][1000 genomes]
rs12151799	0.88[ASN][1000 genomes]
rs12472489	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13407307	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4274577	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4387769	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4430920	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4461243	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4538180	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4670726	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4670727	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62135619	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62135620	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62135623	0.84[ASN][1000 genomes]
rs6544089	0.92[ASN][1000 genomes]
rs6544090	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6705305	0.89[ASN][1000 genomes]
rs6759677	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7419452	0.83[ASN][1000 genomes]
rs7589042	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7593076	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9309009	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9309010	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[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	nsv833814	chr2:37643132-37840247	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv456374	chr2:37669487-37868214	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv470453	chr2:37669487-37868214	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv581473	chr2:37669487-37868214	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
RR interval (heart rate)	20031603	GWAS catalog

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37744600-37751200	Weak transcription	Psoas Muscle	Psoas
2	chr2:37749000-37751200	Enhancers	Colon Smooth Muscle	Colon
3	chr2:37749200-37752800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:37749600-37751200	Weak transcription	Aorta	Aorta
5	chr2:37749800-37751800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:37749800-37752200	Enhancers	Rectal Smooth Muscle	rectum
7	chr2:37749800-37752600	Enhancers	Fetal Brain Female	brain
8	chr2:37750000-37752800	Enhancers	Fetal Heart	heart
9	chr2:37750200-37751200	Enhancers	Adipose Nuclei	Adipose
10	chr2:37750200-37751400	Enhancers	Brain Germinal Matrix	brain
11	chr2:37750200-37752600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:37750200-37752800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr2:37750400-37751200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:37750400-37751200	Enhancers	Fetal Lung	lung
15	chr2:37750400-37751200	Enhancers	Stomach Smooth Muscle	stomach
16	chr2:37750400-37751800	Enhancers	NHLF	lung
17	chr2:37750400-37752200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:37750400-37752600	Enhancers	Fetal Muscle Leg	muscle
19	chr2:37750400-37752600	Enhancers	NHDF-Ad	bronchial
20	chr2:37750400-37752800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:37750400-37752800	Enhancers	Fetal Stomach	stomach
22	chr2:37750600-37751800	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr2:37750600-37752000	Enhancers	Ovary	ovary
24	chr2:37750800-37751400	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr2:37750800-37751600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:37750800-37751600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:37750800-37751600	Enhancers	K562	blood
28	chr2:37750800-37751800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:37750800-37751800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr2:37750800-37752200	Enhancers	Liver	Liver
31	chr2:37750800-37752600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:37750800-37752600	Enhancers	Osteobl	bone

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