Variant report

Variant	rs6604682
Chromosome Location	chr1:222052686-222052687
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221915716..221917980-chr1:222052338..222055276,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10779461	0.97[ASN][1000 genomes]
rs10863665	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11118876	0.82[ASN][1000 genomes]
rs11118877	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11118878	0.84[ASN][1000 genomes]
rs11118879	0.98[ASN][1000 genomes]
rs11118882	0.98[ASN][1000 genomes]
rs11583667	0.82[ASN][1000 genomes]
rs11586814	0.83[ASN][1000 genomes]
rs12047353	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12140184	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12144971	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12562188	0.82[ASN][1000 genomes]
rs12566801	0.82[ASN][1000 genomes]
rs12567671	0.82[ASN][1000 genomes]
rs12568711	0.84[ASN][1000 genomes]
rs4240931	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4846731	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6604679	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6604680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7339876	0.87[ASN][1000 genomes]
rs7540791	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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	chr1:222043200-222052800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:222047800-222054600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:222048600-222073600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:222048800-222060800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:222049800-222052800	Enhancers	Primary hematopoietic stem cells	blood
6	chr1:222050200-222053000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:222050400-222054000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:222051000-222053000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:222051000-222053800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr1:222051000-222056000	Enhancers	NHDF-Ad	bronchial
11	chr1:222051200-222053000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:222051400-222053000	Enhancers	HMEC	breast
13	chr1:222051400-222053000	Enhancers	HSMM	muscle
14	chr1:222051400-222054000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:222051400-222054000	Enhancers	Osteobl	bone
16	chr1:222051400-222054600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr1:222051600-222055800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:222051800-222053000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:222051800-222053400	Enhancers	NHLF	lung
20	chr1:222052000-222054200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:222052200-222053000	Enhancers	Ovary	ovary
22	chr1:222052200-222053000	Enhancers	GM12878-XiMat	blood
23	chr1:222052400-222053000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:222052400-222053000	Enhancers	Placenta	Placenta
25	chr1:222052400-222055000	Enhancers	Adipose Nuclei	Adipose
26	chr1:222052400-222059400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:222052600-222053000	Enhancers	Aorta	Aorta
28	chr1:222052600-222053000	Enhancers	Fetal Lung	lung
29	chr1:222052600-222053000	Enhancers	HSMMtube	muscle
30	chr1:222052600-222058600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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