Variant report

Variant	rs56338231
Chromosome Location	chr4:30867393-30867394
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	chr4:30860982..30862636-chr4:30867110..30869327,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11934243	0.89[ASN][1000 genomes]
rs11938996	0.89[ASN][1000 genomes]
rs11946165	0.89[ASN][1000 genomes]
rs12503052	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13104143	0.81[EUR][1000 genomes]
rs13137577	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13144831	0.89[ASN][1000 genomes]
rs13149475	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13150083	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13150968	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13152756	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1823196	0.86[ASN][1000 genomes]
rs34297806	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34410526	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35186637	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35309740	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35363488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35509507	0.89[ASN][1000 genomes]
rs35805877	0.89[ASN][1000 genomes]
rs35857516	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36173628	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4269140	0.89[ASN][1000 genomes]
rs4305479	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55982008	1.00[ASN][1000 genomes]
rs56037166	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60551461	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61794484	0.89[ASN][1000 genomes]
rs61794485	0.89[ASN][1000 genomes]
rs61794488	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6811147	0.89[ASN][1000 genomes]
rs6811465	0.89[ASN][1000 genomes]
rs6842171	0.89[ASN][1000 genomes]
rs6842574	0.87[ASN][1000 genomes]
rs6842896	0.89[ASN][1000 genomes]
rs6856866	0.89[ASN][1000 genomes]
rs73108238	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7674446	0.89[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:31 , 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	chr4:30855600-30867400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:30856200-30868600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr4:30857200-30868200	Weak transcription	Aorta	Aorta
6	chr4:30861800-30868000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:30862600-30867400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:30862800-30870600	Enhancers	Colon Smooth Muscle	Colon
9	chr4:30863000-30868800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:30863200-30867800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr4:30863600-30868600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:30864200-30870000	Enhancers	Rectal Smooth Muscle	rectum
13	chr4:30864400-30868000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:30864800-30870800	Enhancers	Fetal Heart	heart
15	chr4:30865200-30867400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:30865200-30867400	Weak transcription	Fetal Stomach	stomach
17	chr4:30865200-30867400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr4:30865200-30868000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:30865200-30869200	Weak transcription	Ovary	ovary
20	chr4:30865200-30870400	Weak transcription	Fetal Brain Male	brain
21	chr4:30865200-30872200	Weak transcription	Left Ventricle	heart
22	chr4:30865400-30868200	Weak transcription	NHEK	skin
23	chr4:30865600-30867400	Weak transcription	NH-A	brain
24	chr4:30865600-30868000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr4:30865600-30868000	Weak transcription	HMEC	breast
26	chr4:30865600-30868400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:30865600-30868400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:30865800-30868200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:30866400-30867800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:30867200-30868600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr4:30867200-30870800	Enhancers	Fetal Lung	lung

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