Variant report

Variant	rs56402249
Chromosome Location	chr5:114797999-114798000
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114787173..114789116-chr5:114797971..114800586,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10035674	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10037534	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478233	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478234	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12153505	0.95[EUR][1000 genomes]
rs13189995	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17137847	0.94[EUR][1000 genomes]
rs1833716	0.94[EUR][1000 genomes]
rs269522	0.83[EUR][1000 genomes]
rs28650823	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2900095	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7735894	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114787000-114799400	Weak transcription	Fetal Lung	lung
2	chr5:114794400-114798000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:114794400-114799200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:114794800-114798600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:114795000-114798000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:114795000-114798200	Enhancers	HUVEC	blood vessel
7	chr5:114795000-114798400	Enhancers	Hela-S3	cervix
8	chr5:114795000-114798600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:114795200-114798200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:114795200-114798400	Enhancers	HSMMtube	muscle
11	chr5:114795200-114798600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:114795200-114798600	Enhancers	HMEC	breast
13	chr5:114795400-114806800	Weak transcription	Right Ventricle	heart
14	chr5:114795800-114798200	Enhancers	NHLF	lung
15	chr5:114795800-114798400	Enhancers	GM12878-XiMat	blood
16	chr5:114796200-114799200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:114796200-114805600	Weak transcription	Left Ventricle	heart
18	chr5:114796400-114798200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr5:114796800-114798200	Flanking Active TSS	A549	lung
20	chr5:114797000-114798200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:114797200-114798400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr5:114797200-114798400	Enhancers	Fetal Heart	heart
23	chr5:114797400-114798000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:114797400-114798400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:114797400-114798600	Enhancers	NHEK	skin
26	chr5:114797400-114799400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr5:114797400-114799800	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:114797600-114798000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:114797600-114798400	Enhancers	Osteobl	bone
30	chr5:114797600-114802800	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr5:114797800-114798000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:114797800-114798000	Enhancers	Psoas Muscle	Psoas
33	chr5:114797800-114798200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:114797800-114798200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr5:114797800-114798200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:114797800-114798200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:114797800-114798200	Flanking Active TSS	HSMM	muscle
38	chr5:114797800-114798200	Flanking Active TSS	NH-A	brain
39	chr5:114797800-114798200	Flanking Active TSS	NHDF-Ad	bronchial

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