Variant report

Variant	rs4623197
Chromosome Location	chr5:108017512-108017513
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:108016385..108017936-chr5:108083051..108084580,2	K562	blood:
2	chr5:108017323..108020193-chr5:108082965..108084640,2	K562	blood:
3	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	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10477928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11952230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11952282	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35842524	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4957781	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56915053	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7703883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704020	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704155	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704581	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7735104	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7737443	1.00[CEU][hapmap];0.91[CHB][hapmap];0.97[AMR][1000 genomes];0.97[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	chr5:108016600-108017600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr5:108016800-108017600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr5:108017000-108017600	Enhancers	Colon Smooth Muscle	Colon
6	chr5:108017200-108017600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr5:108017200-108017600	Enhancers	Primary B cells from peripheral blood	blood
8	chr5:108017200-108017600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:108017200-108017600	Enhancers	Adipose Nuclei	Adipose
10	chr5:108017200-108017600	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr5:108017200-108017600	Active TSS	Stomach Smooth Muscle	stomach
12	chr5:108017200-108017600	Enhancers	HepG2	liver
13	chr5:108017200-108017600	Active TSS	Monocytes-CD14+_RO01746	blood
14	chr5:108017400-108017600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:108017400-108017600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:108017400-108017600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr5:108017400-108017600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:108017400-108017600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:108017400-108017600	Flanking Active TSS	GM12878-XiMat	blood
20	chr5:108017400-108017600	Enhancers	HSMM	muscle
21	chr5:108017400-108017600	Active TSS	K562	blood
22	chr5:108017400-108017800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr5:108017400-108017800	Enhancers	Fetal Muscle Leg	muscle
24	chr5:108017400-108021000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:108017400-108021000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr5:108017400-108021200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr5:108017400-108022000	Weak transcription	Brain Angular Gyrus	brain

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