Variant report

Variant	rs2925172
Chromosome Location	chr5:114701789-114701790
allele	C/T
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: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10477531	0.89[CEU][hapmap];0.84[GIH][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs11241322	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11740600	0.89[EUR][1000 genomes]
rs11745205	0.81[EUR][1000 genomes]
rs13162208	0.86[EUR][1000 genomes]
rs17137667	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17137708	0.86[EUR][1000 genomes]
rs17383865	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1812674	0.89[EUR][1000 genomes]
rs2016888	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs2198712	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[EUR][1000 genomes]
rs2925170	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2963747	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2963749	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2963758	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2963765	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2964560	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35389100	0.86[EUR][1000 genomes]
rs6887728	0.83[EUR][1000 genomes]
rs751485	0.96[CEU][hapmap];0.82[CHB][hapmap];0.95[GIH][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs7714928	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs897478	0.96[CEU][hapmap];0.81[CHB][hapmap];0.86[EUR][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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114696400-114701800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr5:114696600-114701800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:114696800-114702000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:114696800-114704200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:114699600-114702600	Enhancers	Fetal Muscle Leg	muscle
6	chr5:114699800-114706600	Weak transcription	Gastric	stomach
7	chr5:114700000-114703000	Enhancers	HUVEC	blood vessel
8	chr5:114700000-114704200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr5:114700200-114715800	Weak transcription	Pancreas	Pancrea
10	chr5:114701000-114703000	Enhancers	NHDF-Ad	bronchial
11	chr5:114701200-114703000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr5:114701400-114701800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:114701400-114701800	Enhancers	HSMMtube	muscle
14	chr5:114701400-114702000	Enhancers	Placenta	Placenta
15	chr5:114701400-114702000	Enhancers	Psoas Muscle	Psoas
16	chr5:114701400-114702000	Enhancers	Right Ventricle	heart
17	chr5:114701400-114702200	Enhancers	Left Ventricle	heart
18	chr5:114701400-114702200	Enhancers	Placenta Amnion	Placenta Amnion
19	chr5:114701400-114702200	Enhancers	NHLF	lung
20	chr5:114701400-114702400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:114701400-114702400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:114701400-114702600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr5:114701400-114702600	Enhancers	Hela-S3	cervix
24	chr5:114701400-114702600	Enhancers	HMEC	breast
25	chr5:114701400-114702600	Enhancers	NH-A	brain
26	chr5:114701400-114702600	Enhancers	NHEK	skin
27	chr5:114701400-114702800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:114701400-114702800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:114701400-114703000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:114701400-114703000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr5:114701400-114703000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr5:114701400-114703400	Enhancers	HSMM	muscle
33	chr5:114701600-114702000	Enhancers	Right Atrium	heart
34	chr5:114701600-114702200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:114701600-114702200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:114701600-114702400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:114701600-114702400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:114701600-114702600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:114701600-114702600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:114701600-114702600	Enhancers	A549	lung
41	chr5:114701600-114702600	Enhancers	Osteobl	bone

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