Variant report

Variant	rs614194
Chromosome Location	chr1:85426807-85426808
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85420041..85422749-chr1:85426305..85427905,2	K562	blood:
2	chr1:85400043..85402617-chr1:85426319..85428955,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10782535	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10873671	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10873675	1.00[ASN][1000 genomes]
rs1458401	1.00[ASN][1000 genomes]
rs2028304	0.80[YRI][hapmap]
rs2039814	1.00[ASN][1000 genomes]
rs486647	1.00[ASN][1000 genomes]
rs4907122	1.00[ASN][1000 genomes]
rs496561	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs499579	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs511765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs517156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs531169	1.00[ASN][1000 genomes]
rs534908	1.00[ASN][1000 genomes]
rs562126	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs586403	1.00[ASN][1000 genomes]
rs589227	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs599137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs599888	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs607298	1.00[ASN][1000 genomes]
rs61769365	1.00[ASN][1000 genomes]
rs641427	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6576737	1.00[ASN][1000 genomes]
rs6576740	0.80[YRI][hapmap];1.00[ASN][1000 genomes]
rs6576742	1.00[ASN][1000 genomes]
rs6576743	0.80[YRI][hapmap];1.00[ASN][1000 genomes]
rs664763	1.00[ASN][1000 genomes]
rs6679539	0.80[YRI][hapmap]
rs6684210	1.00[ASN][1000 genomes]
rs6692907	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs679932	1.00[ASN][1000 genomes]
rs680330	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7519717	0.80[YRI][hapmap];1.00[ASN][1000 genomes]
rs7522239	0.80[YRI][hapmap]
rs7533496	1.00[ASN][1000 genomes]
rs7537692	1.00[ASN][1000 genomes]
rs920340	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9804097	1.00[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	nsv830448	chr1:85294094-85491110	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv470724	chr1:85334788-85585260	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv462383	chr1:85334788-85594466	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv546700	chr1:85334788-85594466	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv947434	chr1:85334915-85594135	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	esv1796871	chr1:85416189-85430851	Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85412200-85430200	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr1:85416200-85435400	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr1:85417200-85428600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:85423200-85430400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr1:85425200-85427000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:85425200-85427000	Enhancers	NHLF	lung
7	chr1:85425200-85427600	Enhancers	Fetal Lung	lung
8	chr1:85425600-85435200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:85425800-85427200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:85425800-85427200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:85425800-85427200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:85425800-85427400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:85425800-85428400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr1:85426000-85427000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:85426000-85427200	Weak transcription	Placenta	Placenta
16	chr1:85426000-85427600	Enhancers	Fetal Heart	heart
17	chr1:85426200-85427000	Enhancers	Placenta Amnion	Placenta Amnion
18	chr1:85426600-85427600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:85426600-85432000	Strong transcription	GM12878-XiMat	blood
20	chr1:85426800-85427000	Flanking Active TSS	Osteobl	bone

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