Variant report

Variant	rs2765254
Chromosome Location	chr1:62753063-62753064
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:62750494..62753386-chr1:62754498..62756263,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10889316	0.95[CHB][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11207950	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs11207956	0.80[CEU][hapmap]
rs11579934	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs11584786	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs12043263	0.83[EUR][1000 genomes]
rs12127930	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs1325738	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1886830	0.88[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1925825	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2666467	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[YRI][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2765255	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2765260	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2765262	0.88[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[YRI][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3850632	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs3850633	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3903928	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4915810	1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs6680736	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6691591	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1009398	chr1:62656660-62780644	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1013582	chr1:62723703-62910632	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62750800-62753200	Enhancers	HMEC	breast
2	chr1:62751200-62753400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:62751400-62753200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
4	chr1:62751600-62753200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:62751600-62753200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:62751600-62753200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr1:62751600-62753200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr1:62751600-62753400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
9	chr1:62751600-62754200	Enhancers	Placenta	Placenta
10	chr1:62751600-62754800	Enhancers	Fetal Heart	heart
11	chr1:62751600-62755000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:62751600-62756200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:62751800-62753200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:62751800-62754800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:62752000-62753200	Bivalent Enhancer	Esophagus	oesophagus
16	chr1:62752000-62753200	Enhancers	Fetal Muscle Trunk	muscle
17	chr1:62752000-62753200	Enhancers	Pancreas	Pancrea
18	chr1:62752000-62753200	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr1:62752000-62753400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:62752200-62753600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
21	chr1:62752200-62753600	Enhancers	Fetal Kidney	kidney
22	chr1:62752400-62753200	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
23	chr1:62752400-62753200	Enhancers	Lung	lung
24	chr1:62752400-62753400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:62752400-62753600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
26	chr1:62752400-62754400	Enhancers	Placenta Amnion	Placenta Amnion
27	chr1:62752600-62753200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:62752600-62753200	Bivalent Enhancer	Brain Angular Gyrus	brain
29	chr1:62752600-62753200	Enhancers	Gastric	stomach
30	chr1:62752600-62753200	Enhancers	Right Atrium	heart
31	chr1:62752600-62753400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:62752600-62754600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr1:62752600-62755600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr1:62752800-62753200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
35	chr1:62752800-62753200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:62752800-62753200	Bivalent Enhancer	Brain Anterior Caudate	brain
37	chr1:62752800-62753200	Enhancers	Fetal Muscle Leg	muscle
38	chr1:62752800-62753200	Bivalent Enhancer	NHEK	skin
39	chr1:62752800-62753400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
40	chr1:62752800-62753400	Enhancers	Adipose Nuclei	Adipose
41	chr1:62752800-62753400	Bivalent Enhancer	Brain Hippocampus Middle	brain
42	chr1:62753000-62753200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
43	chr1:62753000-62753200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
44	chr1:62753000-62753200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
45	chr1:62753000-62753200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:62753000-62753200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:62753000-62753200	Bivalent Enhancer	Brain Substantia Nigra	brain
48	chr1:62753000-62753200	Bivalent Enhancer	Fetal Lung	lung
49	chr1:62753000-62753200	Enhancers	Fetal Stomach	stomach
50	chr1:62753000-62753200	Enhancers	Rectal Mucosa Donor 31	rectum

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