Variant report

Variant	rs4517954
Chromosome Location	chr2:37734421-37734422
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	chr2:37710296..37713273-chr2:37733233..37735732,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10198396	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10199137	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10204024	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10865125	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11124586	0.96[ASN][1000 genomes]
rs1113496	0.99[ASN][1000 genomes]
rs11684461	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12151464	0.92[ASN][1000 genomes]
rs13000102	0.95[ASN][1000 genomes]
rs13009200	0.90[ASN][1000 genomes]
rs13387905	0.96[ASN][1000 genomes]
rs13412538	0.96[ASN][1000 genomes]
rs17020823	0.93[ASN][1000 genomes]
rs17020835	0.96[ASN][1000 genomes]
rs2080387	0.95[ASN][1000 genomes]
rs2192942	0.97[ASN][1000 genomes]
rs2192943	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2192944	0.96[ASN][1000 genomes]
rs2216117	0.95[ASN][1000 genomes]
rs2373108	0.92[ASN][1000 genomes]
rs2373109	0.94[ASN][1000 genomes]
rs2373110	0.95[ASN][1000 genomes]
rs34130356	0.80[ASN][1000 genomes]
rs4353628	0.89[ASN][1000 genomes]
rs4450582	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4503968	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4670205	0.90[ASN][1000 genomes]
rs58694726	0.94[ASN][1000 genomes]
rs60691585	0.89[ASN][1000 genomes]
rs62135565	0.86[ASN][1000 genomes]
rs62135566	0.95[ASN][1000 genomes]
rs62135567	0.95[ASN][1000 genomes]
rs62135568	0.95[ASN][1000 genomes]
rs6708411	0.95[ASN][1000 genomes]
rs6724538	0.96[ASN][1000 genomes]
rs6735123	0.90[ASN][1000 genomes]
rs6746868	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6753503	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6757678	0.95[ASN][1000 genomes]
rs7557408	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7561053	0.90[ASN][1000 genomes]
rs7571760	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7574012	0.96[ASN][1000 genomes]
rs7582204	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7588494	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7593333	0.94[ASN][1000 genomes]
rs7595792	0.96[ASN][1000 genomes]
rs960902	0.97[ASN][1000 genomes]
rs9941697	0.96[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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37709600-37738000	Weak transcription	Liver	Liver
2	chr2:37731000-37735800	Enhancers	Fetal Stomach	stomach
3	chr2:37732000-37735600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:37732200-37735600	Enhancers	Fetal Muscle Leg	muscle
5	chr2:37732200-37735600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr2:37732400-37734800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:37732400-37735000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr2:37732400-37735000	Weak transcription	Ovary	ovary
9	chr2:37732400-37736000	Enhancers	Colon Smooth Muscle	Colon
10	chr2:37732600-37734600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:37732600-37735200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:37732800-37735600	Enhancers	Rectal Smooth Muscle	rectum
13	chr2:37733000-37735800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:37733200-37734800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:37733200-37735000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:37733200-37735000	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr2:37733200-37735000	Enhancers	NHDF-Ad	bronchial
18	chr2:37733200-37735400	Weak transcription	Psoas Muscle	Psoas
19	chr2:37733400-37734600	Flanking Active TSS	HSMMtube	muscle
20	chr2:37733400-37734800	Enhancers	HSMM	muscle
21	chr2:37733400-37735000	Enhancers	NHLF	lung
22	chr2:37733400-37735200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr2:37733400-37735400	Enhancers	Fetal Lung	lung
24	chr2:37733600-37734800	Enhancers	Brain Angular Gyrus	brain
25	chr2:37733600-37735000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr2:37733600-37735000	Enhancers	Brain Cingulate Gyrus	brain
27	chr2:37733600-37735000	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr2:37733600-37735200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:37733600-37735400	Enhancers	Brain Germinal Matrix	brain
30	chr2:37733600-37735600	Enhancers	Aorta	Aorta
31	chr2:37733600-37735600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr2:37733800-37734800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:37734000-37734600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:37734000-37734600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:37734000-37735000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr2:37734000-37735000	Enhancers	Fetal Brain Male	brain
37	chr2:37734200-37734600	Enhancers	H1 Cell Line	embryonic stem cell
38	chr2:37734200-37734600	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr2:37734200-37734600	Enhancers	Brain Substantia Nigra	brain
40	chr2:37734200-37734600	Flanking Active TSS	Fetal Heart	heart
41	chr2:37734200-37734800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr2:37734200-37735000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:37734400-37734600	Enhancers	Fetal Brain Female	brain
44	chr2:37734400-37734800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr2:37734400-37734800	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr2:37734400-37734800	Enhancers	Left Ventricle	heart
47	chr2:37734400-37735800	Enhancers	Stomach Smooth Muscle	stomach

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