Variant report

Variant	rs12083300
Chromosome Location	chr1:226953657-226953658
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	chr1:226928679..226930371-chr1:226951340..226954074,2	K562	blood:
2	chr1:226951528..226954320-chr1:226955883..226958265,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12057817	0.83[AFR][1000 genomes]
rs12061458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12062664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12066190	1.00[AMR][1000 genomes]
rs12066208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12085233	0.83[AFR][1000 genomes]
rs12093413	1.00[AMR][1000 genomes]
rs12095568	1.00[AMR][1000 genomes]
rs6664456	0.89[YRI][hapmap];0.85[AFR][1000 genomes]
rs7526563	0.85[AFR][1000 genomes]
rs7533208	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7535863	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7555672	1.00[AMR][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	nsv997468	chr1:226858660-226975311	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv535316	chr1:226858660-226975311	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr1:226947800-226954000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:226949200-226957400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:226950200-226955400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:226950400-226957200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:226950800-226953800	Enhancers	Thymus	Thymus
6	chr1:226950800-226954200	Enhancers	Fetal Thymus	thymus
7	chr1:226951200-226954400	Enhancers	Osteobl	bone
8	chr1:226951400-226954000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:226951400-226954000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:226951400-226954000	Enhancers	NHLF	lung
11	chr1:226951600-226954000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:226952200-226954400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:226952400-226953800	Enhancers	NHDF-Ad	bronchial
14	chr1:226952400-226954000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:226952400-226960200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:226952600-226953800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr1:226952600-226953800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:226952600-226953800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:226952800-226953800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:226952800-226953800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:226952800-226953800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:226952800-226953800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:226952800-226954800	Enhancers	GM12878-XiMat	blood
24	chr1:226953400-226954000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:226953600-226953800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr1:226953600-226953800	Enhancers	A549	lung
27	chr1:226953600-226953800	Enhancers	HMEC	breast
28	chr1:226953600-226954400	Enhancers	H9 Cell Line	embryonic stem cell
29	chr1:226953600-226954400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:226953600-226954400	Enhancers	HUES6 Cell Line	embryonic stem cell

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