Variant report

Variant	rs7704020
Chromosome Location	chr5:108017293-108017294
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:108016385..108017936-chr5:108083051..108084580,2	K562	blood:
2	chr5:108016773..108017600-chr5:108774230..108775023,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151422	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10039131	0.81[ASN][1000 genomes]
rs10477427	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10477928	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11952230	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11952282	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35842524	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4623197	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4957781	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56915053	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7703883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704581	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7735104	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7737443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[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	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1024076	chr5:107991426-108028223	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1034158	chr5:107995509-108018395	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108007000-108034800	Weak transcription	Right Atrium	heart
2	chr5:108014200-108020800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:108016600-108017400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:108016600-108017400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:108016600-108017600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:108016800-108017400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:108016800-108017400	Enhancers	HUVEC	blood vessel
8	chr5:108016800-108017600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr5:108017000-108017400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:108017000-108017600	Enhancers	Colon Smooth Muscle	Colon
11	chr5:108017200-108017400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:108017200-108017400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:108017200-108017400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:108017200-108017400	Enhancers	Brain Angular Gyrus	brain
15	chr5:108017200-108017400	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr5:108017200-108017400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr5:108017200-108017400	Active TSS	GM12878-XiMat	blood
18	chr5:108017200-108017400	Enhancers	Hela-S3	cervix
19	chr5:108017200-108017400	Flanking Active TSS	K562	blood
20	chr5:108017200-108017600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr5:108017200-108017600	Enhancers	Primary B cells from peripheral blood	blood
22	chr5:108017200-108017600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:108017200-108017600	Enhancers	Adipose Nuclei	Adipose
24	chr5:108017200-108017600	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr5:108017200-108017600	Active TSS	Stomach Smooth Muscle	stomach
26	chr5:108017200-108017600	Enhancers	HepG2	liver
27	chr5:108017200-108017600	Active TSS	Monocytes-CD14+_RO01746	blood

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