Variant report

Variant	rs1968422
Chromosome Location	chr5:57138990-57138991
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:57138883..57141351-chr5:57755276..57756971,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145632	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10940579	0.88[CEU][hapmap];0.90[AMR][1000 genomes]
rs12659683	1.00[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1835874	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1972768	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4323195	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[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	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830310	chr5:56989346-57176006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2763454	chr5:57006531-57161140	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57130200-57139200	Enhancers	HMEC	breast
2	chr5:57131400-57140000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:57131400-57141000	Weak transcription	Left Ventricle	heart
4	chr5:57132800-57139000	Enhancers	NHDF-Ad	bronchial
5	chr5:57136800-57141200	Enhancers	Fetal Muscle Leg	muscle
6	chr5:57137000-57139000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:57137000-57139000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:57137000-57139000	Enhancers	NHLF	lung
9	chr5:57137200-57139000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:57137200-57139000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:57137600-57142800	Weak transcription	Fetal Brain Male	brain
12	chr5:57137800-57141000	Weak transcription	Right Ventricle	heart
13	chr5:57138000-57140200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr5:57138000-57143000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:57138200-57139200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr5:57138200-57139200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:57138200-57139400	Weak transcription	Placenta	Placenta
18	chr5:57138200-57139400	Enhancers	Osteobl	bone
19	chr5:57138200-57139800	Enhancers	HSMM	muscle
20	chr5:57138200-57141000	Enhancers	NHEK	skin
21	chr5:57138200-57142800	Weak transcription	Fetal Lung	lung
22	chr5:57138200-57143600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:57138400-57139400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:57138400-57140400	Weak transcription	Adipose Nuclei	Adipose
25	chr5:57138400-57140400	Weak transcription	Brain Germinal Matrix	brain
26	chr5:57138400-57143400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:57138600-57141200	Enhancers	HUVEC	blood vessel
28	chr5:57138800-57139600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr5:57138800-57142600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:57138800-57151800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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