Variant report

Variant	rs4538180
Chromosome Location	chr2:37762760-37762761
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37762322..37765229-chr2:37766980..37769803,2	MCF-7	breast:
2	chr2:37748769..37750538-chr2:37760905..37763616,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10084269	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10165975	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10177794	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10177859	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10180573	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10184286	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11124588	0.90[ASN][1000 genomes]
rs12151799	0.90[ASN][1000 genomes]
rs12472489	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13407307	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35745581	0.80[EUR][1000 genomes]
rs4233923	0.80[EUR][1000 genomes]
rs4274577	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4352210	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4387769	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4430920	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4461243	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4670726	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4670727	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62135619	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62135620	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62135623	0.86[ASN][1000 genomes]
rs6544089	0.94[ASN][1000 genomes]
rs6544090	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6705305	0.91[ASN][1000 genomes]
rs6715817	0.82[ASN][1000 genomes]
rs6759677	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7419452	0.85[ASN][1000 genomes]
rs7589042	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7593076	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9309009	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9309010	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[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

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37751600-37763000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:37752800-37763000	Weak transcription	Psoas Muscle	Psoas
3	chr2:37757600-37762800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:37757600-37763000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:37760000-37765000	Weak transcription	Fetal Heart	heart
6	chr2:37760600-37762800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:37760800-37762800	Weak transcription	NH-A	brain
8	chr2:37761000-37762800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:37761000-37762800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr2:37761000-37762800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr2:37761200-37763000	Weak transcription	Osteobl	bone
12	chr2:37762600-37762800	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr2:37762600-37763600	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr2:37762600-37763600	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr2:37762600-37763600	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr2:37762600-37763600	Active TSS	Primary hematopoietic stem cells	blood
17	chr2:37762600-37763600	Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr2:37762600-37763600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:37762600-37763600	Active TSS	A549	lung
20	chr2:37762600-37763600	Active TSS	GM12878-XiMat	blood

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