Variant report

Variant	rs4702258
Chromosome Location	chr5:5309811-5309812
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	chr5:5304478..5306308-chr5:5307574..5310216,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11949096	0.81[ASN][1000 genomes]
rs11959893	0.81[ASN][1000 genomes]
rs4702256	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4702257	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4702259	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1032719	chr5:5102763-5387406	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537621	chr5:5102763-5387406	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5302400-5312400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:5304800-5312200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr5:5305000-5311400	Strong transcription	Ovary	ovary
4	chr5:5305600-5312000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:5305600-5312800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr5:5305600-5312800	Weak transcription	Psoas Muscle	Psoas
7	chr5:5305600-5314800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:5305600-5319400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:5305600-5326200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:5305800-5321400	Weak transcription	Fetal Kidney	kidney
11	chr5:5306400-5312800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:5307000-5311400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:5307400-5313000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:5307600-5312200	Weak transcription	NH-A	brain
15	chr5:5307600-5312800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:5307800-5311800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:5307800-5318000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:5308000-5312200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr5:5308000-5312200	Weak transcription	Fetal Muscle Leg	muscle
20	chr5:5308000-5313200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:5308200-5313200	Weak transcription	Fetal Lung	lung
22	chr5:5308200-5318000	Weak transcription	Fetal Brain Male	brain
23	chr5:5308400-5312000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:5308400-5312200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr5:5308400-5312200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:5309400-5312200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr5:5309800-5310000	Enhancers	Esophagus	oesophagus
28	chr5:5309800-5310400	Enhancers	Pancreas	Pancrea
29	chr5:5309800-5310800	ZNF genes & repeats	Right Atrium	heart

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