Variant report

Variant	rs1010033
Chromosome Location	chr1:155917880-155917881
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:155916376..155918441-chr1:155945266..155947635,3	K562	blood:
2	chr1:155916146..155918566-chr1:155947775..155949501,2	K562	blood:
3	chr1:155914514..155917947-chr1:155920172..155923593,3	MCF-7	breast:
4	chr1:155915830..155918443-chr1:155920594..155922369,4	K562	blood:
5	chr1:155901960..155906403-chr1:155912698..155918499,7	MCF-7	breast:
6	chr1:155909425..155917901-chr1:155919093..155927049,14	K562	blood:

Variant related genes	Relation type
ENSG00000116584	Chromatin interaction
ENSG00000132680	Chromatin interaction
ENSG00000273002	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1018730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1055184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10908485	0.97[EUR][1000 genomes]
rs1094558	0.81[ASN][1000 genomes]
rs11264421	0.92[EUR][1000 genomes]
rs12039053	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12129384	0.82[AFR][1000 genomes]
rs12138833	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12747344	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs1544119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1749407	0.89[EUR][1000 genomes]
rs1749408	0.84[EUR][1000 genomes]
rs1749409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1765275	0.85[CEU][hapmap];0.97[EUR][1000 genomes]
rs1964951	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2275071	0.95[ASN][1000 genomes]
rs2275079	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2275081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364404	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28379575	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2886069	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34802187	0.99[EUR][1000 genomes]
rs35138477	0.85[EUR][1000 genomes]
rs35374730	0.96[EUR][1000 genomes]
rs35588936	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs35730001	0.96[EUR][1000 genomes]
rs3738587	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3768280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4412586	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4661160	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4661162	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4661170	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4661172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs493446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs506688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs527113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs536870	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs572609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs605025	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs6660802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6667096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708614	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71628697	0.97[EUR][1000 genomes]
rs71628699	0.86[EUR][1000 genomes]
rs822502	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs822503	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs822519	1.00[CEU][hapmap]
rs822653	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155905000-155945600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:155905400-155918400	Weak transcription	Psoas Muscle	Psoas
3	chr1:155911200-155940000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:155912200-155918200	Weak transcription	Ovary	ovary
5	chr1:155914400-155918000	Strong transcription	NHLF	lung
6	chr1:155914600-155918800	Strong transcription	Hela-S3	cervix
7	chr1:155914800-155921800	Weak transcription	Fetal Heart	heart
8	chr1:155914800-155929600	Strong transcription	Muscle Satellite Cultured Cells	--
9	chr1:155914800-155929800	Strong transcription	Fetal Stomach	stomach
10	chr1:155914800-155930200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:155914800-155931600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:155915000-155918800	Strong transcription	NH-A	brain
13	chr1:155915200-155921600	Weak transcription	Fetal Brain Male	brain
14	chr1:155915200-155927400	Strong transcription	Brain Anterior Caudate	brain
15	chr1:155915200-155930600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:155915200-155936800	Strong transcription	Fetal Brain Female	brain
17	chr1:155915200-155937000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:155915400-155919800	Weak transcription	Fetal Kidney	kidney
19	chr1:155915800-155918000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:155915800-155921400	Strong transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:155915800-155921600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:155915800-155925400	Strong transcription	Placenta Amnion	Placenta Amnion
23	chr1:155915800-155929600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:155915800-155929600	Strong transcription	HMEC	breast
25	chr1:155915800-155929800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:155915800-155929800	Strong transcription	HSMMtube	muscle
27	chr1:155915800-155930000	Strong transcription	Left Ventricle	heart
28	chr1:155915800-155930400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:155915800-155930400	Strong transcription	Osteobl	bone
30	chr1:155915800-155930600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:155915800-155931600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:155915800-155935200	Strong transcription	Brain Germinal Matrix	brain
33	chr1:155915800-155936600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:155916000-155921800	Strong transcription	Esophagus	oesophagus
35	chr1:155916000-155925400	Strong transcription	Gastric	stomach
36	chr1:155916000-155925400	Strong transcription	NHEK	skin
37	chr1:155916000-155926000	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr1:155916000-155930600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:155916000-155931400	Strong transcription	HUVEC	blood vessel
40	chr1:155916000-155937000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:155916200-155918000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:155916200-155918400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
43	chr1:155916200-155918600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:155916200-155918600	Strong transcription	Brain Substantia Nigra	brain
45	chr1:155916200-155918800	Genic enhancers	Primary monocytes fromperipheralblood	blood
46	chr1:155916200-155918800	Strong transcription	NHDF-Ad	bronchial
47	chr1:155916200-155919000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:155916200-155919800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:155916200-155921600	Weak transcription	Stomach Mucosa	stomach
50	chr1:155916200-155925400	Strong transcription	K562	blood

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