Variant report

Variant	rs41383647
Chromosome Location	chr1:85426256-85426257
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	chr1:85424847..85426779-chr1:85430134..85432715,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10782538	1.00[CHB][hapmap]
rs11161516	1.00[CHB][hapmap]
rs17099213	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs17119333	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.84[MKK][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17119338	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17120570	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes]
rs1962897	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41461649	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs4907127	1.00[CHB][hapmap]
rs55640042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55663547	0.85[EUR][1000 genomes]
rs55814348	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56101051	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56314577	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6576745	1.00[CHB][hapmap]
rs6576747	1.00[CHB][hapmap]
rs6681402	1.00[CHB][hapmap]
rs6681619	1.00[CHB][hapmap]
rs6684766	1.00[CHB][hapmap]
rs6695223	1.00[CHB][hapmap]
rs6697585	0.84[CHB][hapmap]
rs7517849	1.00[AMR][1000 genomes]
rs7529904	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs898035	1.00[CHB][hapmap]

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:31 , 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	chr1:85425000-85426400	Enhancers	Osteobl	bone
6	chr1:85425000-85426600	Genic enhancers	GM12878-XiMat	blood
7	chr1:85425200-85426400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:85425200-85426400	Enhancers	NHDF-Ad	bronchial
9	chr1:85425200-85426600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:85425200-85427000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:85425200-85427000	Enhancers	NHLF	lung
12	chr1:85425200-85427600	Enhancers	Fetal Lung	lung
13	chr1:85425600-85435200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:85425800-85427200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:85425800-85427200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:85425800-85427200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr1:85425800-85427400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:85425800-85428400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:85426000-85426400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:85426000-85426400	Enhancers	Adipose Nuclei	Adipose
21	chr1:85426000-85426400	Enhancers	NH-A	brain
22	chr1:85426000-85426600	Enhancers	Hela-S3	cervix
23	chr1:85426000-85426600	Enhancers	HMEC	breast
24	chr1:85426000-85427000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:85426000-85427200	Weak transcription	Placenta	Placenta
26	chr1:85426000-85427600	Enhancers	Fetal Heart	heart
27	chr1:85426200-85426400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:85426200-85426600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:85426200-85426600	Enhancers	Ovary	ovary
30	chr1:85426200-85426800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:85426200-85427000	Enhancers	Placenta Amnion	Placenta Amnion

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