Variant report

Variant	rs2642186
Chromosome Location	chr1:84571005-84571006
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	chr1:84547425..84549381-chr1:84569524..84571663,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1021491	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10874427	1.00[CEU][hapmap];0.86[GIH][hapmap];0.87[JPT][hapmap];0.94[TSI][hapmap];0.94[EUR][1000 genomes]
rs12756327	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1603000	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2250806	0.93[CEU][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2792973	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2792975	1.00[CEU][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2792976	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs594631	0.83[CEU][hapmap];0.90[EUR][1000 genomes]
rs599686	0.94[EUR][1000 genomes]
rs603939	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs617568	0.91[EUR][1000 genomes]
rs638545	0.90[EUR][1000 genomes]
rs648856	0.94[EUR][1000 genomes]
rs650629	0.90[EUR][1000 genomes]
rs652489	0.86[EUR][1000 genomes]
rs6576959	0.91[EUR][1000 genomes]
rs6701486	1.00[CEU][hapmap];0.88[GIH][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.99[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	nsv546689	chr1:84531117-84670816	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv546690	chr1:84562265-84655238	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84569000-84573200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:84569000-84585000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:84569200-84573400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:84569200-84573400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:84569200-84573400	Weak transcription	Fetal Intestine Large	intestine
6	chr1:84569200-84573600	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:84569200-84581400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:84569200-84587400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:84569200-84599600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:84569400-84572600	Weak transcription	HMEC	breast
11	chr1:84569400-84573000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:84569400-84573600	Weak transcription	Fetal Lung	lung
13	chr1:84569400-84579800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:84569400-84587400	Weak transcription	Ovary	ovary
15	chr1:84569600-84572600	Weak transcription	HSMMtube	muscle
16	chr1:84569600-84572800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:84569600-84572800	Weak transcription	NHEK	skin
18	chr1:84569600-84573000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:84569600-84573000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:84569600-84573000	Weak transcription	Osteobl	bone
21	chr1:84569600-84573400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:84569600-84573400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:84569800-84572000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:84569800-84572600	Weak transcription	NHDF-Ad	bronchial
25	chr1:84569800-84572800	Weak transcription	NH-A	brain
26	chr1:84569800-84572800	Weak transcription	NHLF	lung
27	chr1:84569800-84573000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:84569800-84573000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:84569800-84573000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:84569800-84583600	Weak transcription	HSMM	muscle
31	chr1:84570000-84572600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:84570800-84571200	Weak transcription	K562	blood

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