Variant report

Variant	rs13117876
Chromosome Location	chr4:74594341-74594342
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:74593937..74595664-chr4:74604210..74607122,2	K562	blood:
2	chr4:74577279..74579101-chr4:74593564..74596063,2	K562	blood:
3	chr4:74570843..74573608-chr4:74593259..74594924,2	K562	blood:
4	chr4:74593757..74596273-chr4:75022990..75025255,2	MCF-7	breast:
5	chr4:74591810..74594488-chr4:74595060..74600715,5	MCF-7	breast:
6	chr4:74589066..74590664-chr4:74592774..74595059,2	MCF-7	breast:
7	chr4:74591962..74597555-chr4:74604207..74608035,5	K562	blood:
8	chr4:74586389..74588857-chr4:74593832..74596900,3	MCF-7	breast:
9	chr4:74590489..74596671-chr4:74604726..74609497,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000269559	Chromatin interaction
ENSG00000169429	Chromatin interaction
ENSG00000163738	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10005565	0.91[ASN][1000 genomes]
rs10009462	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10009488	0.92[ASN][1000 genomes]
rs10010970	0.91[ASN][1000 genomes]
rs10012962	0.82[ASN][1000 genomes]
rs10015626	0.91[ASN][1000 genomes]
rs10019318	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10031141	0.96[CEU][hapmap];0.86[CHB][hapmap];0.83[EUR][1000 genomes]
rs10938092	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10938094	0.83[ASN][1000 genomes]
rs10938095	0.83[ASN][1000 genomes]
rs10938096	0.80[ASN][1000 genomes]
rs10938097	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10938100	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1126647	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11730284	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11730560	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11730667	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11938389	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12503139	0.80[ASN][1000 genomes]
rs12644561	0.80[ASN][1000 genomes]
rs13106097	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13109146	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13109377	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13112910	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13116536	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13151869	0.80[ASN][1000 genomes]
rs16849928	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16849945	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16849958	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1951235	0.81[ASN][1000 genomes]
rs1951236	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1951240	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1951242	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1957070	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1957661	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2145617	0.84[CEU][hapmap];0.95[CHB][hapmap];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2224434	0.84[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2227306	0.96[CEU][hapmap];0.91[CHB][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2227307	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2227521	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2227543	0.96[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2367276	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28609798	0.83[ASN][1000 genomes]
rs28612337	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2886920	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2886922	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4073	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4279174	0.82[ASN][1000 genomes]
rs4549349	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4694178	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4694636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4694637	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4694639	0.85[CHB][hapmap]
rs62312370	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6446959	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6446960	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6446961	0.96[CEU][hapmap];0.90[CHB][hapmap]
rs6820848	0.88[ASN][1000 genomes]
rs6853679	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7689435	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9999262	0.82[ASN][1000 genomes]
rs9999446	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1012198	chr4:74487793-74621952	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv537139	chr4:74487793-74621952	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1005231	chr4:74555497-74680079	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74588000-74595000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr4:74588000-74595200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr4:74590800-74596400	Enhancers	HUVEC	blood vessel
4	chr4:74592400-74595000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:74592400-74595200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr4:74592400-74595200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:74592400-74595200	Weak transcription	HSMM	muscle
8	chr4:74592400-74595600	Weak transcription	HSMMtube	muscle
9	chr4:74592400-74597200	Weak transcription	Pancreas	Pancrea
10	chr4:74592400-74600000	Weak transcription	Psoas Muscle	Psoas
11	chr4:74592400-74600000	Weak transcription	NHLF	lung
12	chr4:74592600-74595000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:74592600-74595200	Weak transcription	A549	lung
14	chr4:74592800-74595000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:74592800-74595000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:74592800-74595000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr4:74592800-74595200	Weak transcription	Hela-S3	cervix
18	chr4:74592800-74595200	Weak transcription	HMEC	breast
19	chr4:74592800-74595200	Weak transcription	Osteobl	bone
20	chr4:74593000-74594600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:74593000-74595200	Weak transcription	NHDF-Ad	bronchial
22	chr4:74593400-74595000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:74593600-74594600	Weak transcription	Left Ventricle	heart
24	chr4:74593600-74595000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:74593600-74595000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:74593600-74595400	Weak transcription	NHEK	skin
27	chr4:74593600-74595600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:74593600-74596000	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr4:74593600-74596000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:74593600-74597200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:74593800-74595200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr4:74593800-74595200	Weak transcription	K562	blood
33	chr4:74594000-74594600	Weak transcription	Lung	lung
34	chr4:74594000-74595200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:74594000-74595200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr4:74594200-74597000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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