Variant report

Variant	rs1323067
Chromosome Location	chr4:20262768-20262769
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	chr4:20254313..20256018-chr4:20262688..20264505,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145147	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12641426	0.81[EUR][1000 genomes]
rs13142886	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs1323062	0.84[CEU][hapmap];0.91[TSI][hapmap]
rs13434430	0.85[CEU][hapmap];0.88[TSI][hapmap]
rs1815266	0.93[EUR][1000 genomes]
rs1865759	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1923839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2322460	0.80[ASN][1000 genomes]
rs2322461	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4443279	0.85[CEU][hapmap]
rs6831088	0.98[EUR][1000 genomes]
rs7664347	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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	nsv878736	chr4:20233035-20279858	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv878737	chr4:20233035-20282334	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv878738	chr4:20255306-20300192	Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv878739	chr4:20255306-20307922	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv461287	chr4:20261786-20292239	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv593791	chr4:20261786-20292239	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20257600-20266200	Weak transcription	HMEC	breast
2	chr4:20257600-20268200	Weak transcription	Brain Angular Gyrus	brain
3	chr4:20257800-20268400	Weak transcription	Brain Hippocampus Middle	brain
4	chr4:20258000-20264400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:20258000-20275400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:20258200-20299400	Weak transcription	Fetal Stomach	stomach
7	chr4:20258400-20266200	Weak transcription	NHEK	skin
8	chr4:20258400-20274000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:20259000-20269600	Weak transcription	HUVEC	blood vessel
10	chr4:20259200-20267600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:20259400-20266000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:20260000-20265800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:20260000-20273600	Weak transcription	Fetal Kidney	kidney
14	chr4:20260000-20273800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr4:20260000-20276200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr4:20260400-20262800	Genic enhancers	NHDF-Ad	bronchial
17	chr4:20261600-20263400	Weak transcription	Osteobl	bone
18	chr4:20261600-20263800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:20261600-20264400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:20261600-20268000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:20261800-20273200	Weak transcription	NHLF	lung
22	chr4:20262400-20264400	Genic enhancers	Fetal Lung	lung
23	chr4:20262400-20265600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:20262400-20266800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:20262600-20262800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:20262600-20263000	Enhancers	Colon Smooth Muscle	Colon
27	chr4:20262600-20268000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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