Variant report

Variant	rs321322
Chromosome Location	chr6:45684556-45684557
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45677669..45679804-chr6:45680986..45684570,3	MCF-7	breast:
2	chr6:45386507..45391476-chr6:45680273..45684660,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124813	Chromatin interaction
ENSG00000271857	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1491139	0.81[AMR][1000 genomes]
rs1932040	0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs2637578	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2637580	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2782658	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2782659	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2782660	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2782663	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2782666	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs321321	0.94[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];0.88[YRI][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs321324	0.86[CHB][hapmap];0.86[YRI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs321325	0.83[CEU][hapmap];0.86[CHB][hapmap];0.86[YRI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4714864	0.81[AMR][1000 genomes]
rs9349324	0.80[AMR][1000 genomes]
rs9472557	0.83[CEU][hapmap];0.86[CHB][hapmap];0.80[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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45680200-45684800	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr6:45682200-45690600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:45682800-45686200	Weak transcription	Osteobl	bone
4	chr6:45682800-45690400	Weak transcription	NHEK	skin
5	chr6:45683000-45686000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:45683000-45686000	Weak transcription	NHDF-Ad	bronchial
7	chr6:45683000-45686200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:45683200-45685400	Weak transcription	HSMMtube	muscle
9	chr6:45683200-45686000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr6:45683200-45686000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:45683200-45686200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:45683200-45686200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:45683200-45686400	Weak transcription	NH-A	brain
14	chr6:45683400-45684600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:45683400-45685400	Weak transcription	HSMM	muscle
16	chr6:45684000-45684600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:45684000-45684600	Enhancers	HMEC	breast
18	chr6:45684400-45684600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:45684400-45684800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:45684400-45685000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:45684400-45685000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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