Variant report

Variant	rs4498118
Chromosome Location	chr4:8311231-8311232
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	chr4:8306129..8312354-chr4:8314662..8318399,6	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10023502	0.93[ASN][1000 genomes]
rs10029934	0.91[ASN][1000 genomes]
rs13435482	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs28664747	0.84[ASN][1000 genomes]
rs28668483	0.82[ASN][1000 genomes]
rs4235260	0.91[ASN][1000 genomes]
rs4235261	0.91[ASN][1000 genomes]
rs4235262	0.91[ASN][1000 genomes]
rs4235264	0.88[ASN][1000 genomes]
rs4286505	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4588439	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4629434	0.85[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4696679	0.93[ASN][1000 genomes]
rs4696680	0.91[ASN][1000 genomes]
rs4696682	0.91[ASN][1000 genomes]
rs4696684	0.89[ASN][1000 genomes]
rs4696806	0.91[ASN][1000 genomes]
rs62286507	0.97[ASN][1000 genomes]
rs62286509	0.92[ASN][1000 genomes]
rs62286511	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6818156	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv829853	chr4:8172065-8320868	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv878600	chr4:8209447-8312158	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv461218	chr4:8254784-8320126	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv593628	chr4:8254784-8320126	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv878603	chr4:8289807-8312158	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8279000-8317200	Weak transcription	Gastric	stomach
2	chr4:8306000-8311800	Enhancers	Adipose Nuclei	Adipose
3	chr4:8306400-8314000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:8307600-8312400	Enhancers	Right Ventricle	heart
5	chr4:8308200-8313000	Enhancers	Ovary	ovary
6	chr4:8308600-8311400	Weak transcription	Esophagus	oesophagus
7	chr4:8309000-8311600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:8309400-8311600	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:8310000-8311600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:8310400-8311600	Enhancers	Right Atrium	heart
11	chr4:8310600-8311400	Bivalent Enhancer	Placenta	Placenta
12	chr4:8310600-8311600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:8310600-8311600	Enhancers	Rectal Smooth Muscle	rectum
14	chr4:8310600-8311600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
15	chr4:8310600-8312000	Enhancers	Fetal Heart	heart
16	chr4:8310600-8312400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr4:8310600-8312400	Enhancers	Fetal Stomach	stomach
18	chr4:8310600-8312600	Enhancers	Fetal Muscle Leg	muscle
19	chr4:8310800-8311400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:8310800-8311400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr4:8310800-8311800	Enhancers	Left Ventricle	heart
22	chr4:8311000-8311400	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr4:8311000-8311400	Enhancers	Spleen	Spleen
24	chr4:8311000-8311600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr4:8311000-8311600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr4:8311000-8311600	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr4:8311000-8312400	Weak transcription	K562	blood
28	chr4:8311200-8311400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr4:8311200-8311600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:8311200-8311600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:8311200-8311600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:8311200-8311800	Enhancers	Psoas Muscle	Psoas
33	chr4:8311200-8312200	Enhancers	HSMMtube	muscle

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