Variant report

Variant	rs4705733
Chromosome Location	chr5:114701939-114701940
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:114700686..114702330-chr5:114878580..114880982,2	MCF-7	breast:
2	chr5:114684315..114686804-chr5:114699761..114703151,3	MCF-7	breast:
3	chr5:114700131..114702425-chr5:114706517..114709440,2	MCF-7	breast:
4	chr5:114630803..114632408-chr5:114701382..114703629,2	MCF-7	breast:
5	chr5:114701068..114703742-chr5:114706747..114709542,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145780	Chromatin interaction
ENSG00000164221	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10447263	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10463669	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519405	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10519406	0.93[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11241320	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11241323	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12516512	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12519220	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12654590	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12657417	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1445697	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1455849	0.83[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs1455850	0.83[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs166566	0.93[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs17137700	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1838682	0.82[AFR][1000 genomes]
rs2416401	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2416402	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2416403	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2416404	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2416406	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2591258	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2605178	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2605179	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs269503	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs269504	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs269505	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs269506	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs269510	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2900093	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34919660	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35900499	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4705524	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56177976	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7703838	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7704303	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7715232	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7721559	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7733943	0.89[AFR][1000 genomes];0.88[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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2757132	chr5:114697260-114737583	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv2759370	chr5:114697260-114737583	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114696800-114702000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr5:114696800-114704200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:114699600-114702600	Enhancers	Fetal Muscle Leg	muscle
4	chr5:114699800-114706600	Weak transcription	Gastric	stomach
5	chr5:114700000-114703000	Enhancers	HUVEC	blood vessel
6	chr5:114700000-114704200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr5:114700200-114715800	Weak transcription	Pancreas	Pancrea
8	chr5:114701000-114703000	Enhancers	NHDF-Ad	bronchial
9	chr5:114701200-114703000	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr5:114701400-114702000	Enhancers	Placenta	Placenta
11	chr5:114701400-114702000	Enhancers	Psoas Muscle	Psoas
12	chr5:114701400-114702000	Enhancers	Right Ventricle	heart
13	chr5:114701400-114702200	Enhancers	Left Ventricle	heart
14	chr5:114701400-114702200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr5:114701400-114702200	Enhancers	NHLF	lung
16	chr5:114701400-114702400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:114701400-114702400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:114701400-114702600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr5:114701400-114702600	Enhancers	Hela-S3	cervix
20	chr5:114701400-114702600	Enhancers	HMEC	breast
21	chr5:114701400-114702600	Enhancers	NH-A	brain
22	chr5:114701400-114702600	Enhancers	NHEK	skin
23	chr5:114701400-114702800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:114701400-114702800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:114701400-114703000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:114701400-114703000	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr5:114701400-114703000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr5:114701400-114703400	Enhancers	HSMM	muscle
29	chr5:114701600-114702000	Enhancers	Right Atrium	heart
30	chr5:114701600-114702200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:114701600-114702200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:114701600-114702400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:114701600-114702400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:114701600-114702600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:114701600-114702600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:114701600-114702600	Enhancers	A549	lung
37	chr5:114701600-114702600	Enhancers	Osteobl	bone
38	chr5:114701800-114702000	Flanking Active TSS	HSMMtube	muscle
39	chr5:114701800-114702200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:114701800-114702200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:114701800-114702200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr5:114701800-114702200	Enhancers	Brain Anterior Caudate	brain
43	chr5:114701800-114702200	Enhancers	Esophagus	oesophagus
44	chr5:114701800-114702400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr5:114701800-114702400	Enhancers	K562	blood
46	chr5:114701800-114702600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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