Variant report

Variant	rs4703706
Chromosome Location	chr5:75672800-75672801
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75667400..75670922-chr5:75672523..75674364,4	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs192196	0.88[EUR][1000 genomes]
rs2455429	0.82[EUR][1000 genomes]
rs246784	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs246785	0.91[EUR][1000 genomes]
rs246789	0.86[EUR][1000 genomes]
rs2972864	0.81[EUR][1000 genomes]
rs2972865	0.81[EUR][1000 genomes]
rs372733	0.86[EUR][1000 genomes]
rs405030	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs4235697	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4704307	0.92[EUR][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	nsv870415	chr5:75526088-75738412	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv980686	chr5:75671882-75674932	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75668600-75676600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr5:75668800-75676400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:75669000-75672800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:75669000-75676400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr5:75669000-75676400	Weak transcription	Placenta	Placenta
6	chr5:75669000-75676800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr5:75669000-75682400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:75670800-75673200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:75671400-75673000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:75671400-75673000	Enhancers	K562	blood
11	chr5:75671600-75673000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr5:75672000-75672800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:75672200-75672800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:75672200-75673000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:75672400-75672800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:75672400-75674200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr5:75672400-75674400	Weak transcription	HepG2	liver
18	chr5:75672600-75672800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:75672600-75673000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:75672600-75675000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:75672800-75673000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:75672800-75676200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:75672800-75676400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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