Variant report

Variant	rs73214917
Chromosome Location	chr4:30868924-30868925
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:30860982..30862636-chr4:30867110..30869327,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10517220	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11721929	0.95[AMR][1000 genomes]
rs11722675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11722728	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11724608	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11725568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11726296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727832	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11732061	0.90[AMR][1000 genomes]
rs11929796	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11934948	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11935856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11939033	0.83[EUR][1000 genomes]
rs11945622	0.83[EUR][1000 genomes]
rs1447368	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17718569	0.83[ASN][1000 genomes]
rs17719504	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28393067	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28884596	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6813421	0.81[EUR][1000 genomes]
rs6817721	0.83[EUR][1000 genomes]
rs6818328	0.83[EUR][1000 genomes]
rs6825940	0.89[AMR][1000 genomes]
rs6833448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6837246	0.83[ASN][1000 genomes]
rs6839018	0.81[EUR][1000 genomes]
rs73213200	0.84[AMR][1000 genomes]
rs73214903	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214904	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214906	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214908	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214909	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73214928	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73214930	0.83[EUR][1000 genomes]
rs73214938	0.89[AMR][1000 genomes]
rs73214944	0.84[AMR][1000 genomes]
rs73214950	0.84[AMR][1000 genomes]
rs73214953	0.89[AMR][1000 genomes]
rs73812667	0.81[EUR][1000 genomes]
rs7670614	0.83[ASN][1000 genomes]
rs7676204	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][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	nsv878810	chr4:30823157-30987395	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv998450	chr4:30823631-31628179	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30849200-30872200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:30855200-30879600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:30862800-30870600	Enhancers	Colon Smooth Muscle	Colon
4	chr4:30864200-30870000	Enhancers	Rectal Smooth Muscle	rectum
5	chr4:30864800-30870800	Enhancers	Fetal Heart	heart
6	chr4:30865200-30869200	Weak transcription	Ovary	ovary
7	chr4:30865200-30870400	Weak transcription	Fetal Brain Male	brain
8	chr4:30865200-30872200	Weak transcription	Left Ventricle	heart
9	chr4:30867200-30870800	Enhancers	Fetal Lung	lung
10	chr4:30867400-30869400	Enhancers	Fetal Intestine Small	intestine
11	chr4:30867400-30869400	Enhancers	NH-A	brain
12	chr4:30867400-30870800	Enhancers	Fetal Stomach	stomach
13	chr4:30867600-30869000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:30868000-30869400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr4:30868000-30870000	Enhancers	HMEC	breast
16	chr4:30868200-30869400	Active TSS	Aorta	Aorta
17	chr4:30868200-30870000	Enhancers	NHEK	skin
18	chr4:30868400-30869400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:30868400-30870400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:30868600-30869200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr4:30868600-30869200	Enhancers	Hela-S3	cervix
22	chr4:30868600-30869800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr4:30868600-30870000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr4:30868800-30869400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:30868800-30869600	Enhancers	Stomach Smooth Muscle	stomach
26	chr4:30868800-30870000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:30868800-30879200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:30868800-30886800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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