Variant report

Variant	rs17112562
Chromosome Location	chr1:56107317-56107318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17101352	1.00[YRI][hapmap]
rs17112489	1.00[TSI][hapmap]
rs17112508	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17112514	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17112535	1.00[AFR][1000 genomes]
rs17112565	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17112578	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17112594	1.00[TSI][hapmap];1.00[YRI][hapmap]
rs17112601	1.00[CHB][hapmap]
rs17112607	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs17417072	0.85[GIH][hapmap]
rs72669744	1.00[ASN][1000 genomes]
rs72669746	1.00[ASN][1000 genomes]
rs72669747	1.00[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	nsv461617	chr1:56055190-56123510	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv546303	chr1:56055190-56123510	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv1014866	chr1:56059054-56129092	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv526148	chr1:56101597-56146450	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56105000-56107400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:56105200-56107400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:56105800-56107400	Enhancers	Fetal Stomach	stomach
4	chr1:56106000-56107600	Enhancers	NHLF	lung
5	chr1:56106400-56107400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:56106400-56107400	Active TSS	Stomach Smooth Muscle	stomach
7	chr1:56106400-56107400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr1:56106600-56107400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:56106600-56107400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:56106600-56107400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:56106600-56107400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr1:56106600-56107400	Active TSS	Brain Angular Gyrus	brain
13	chr1:56106600-56107400	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr1:56106600-56107400	Enhancers	Fetal Heart	heart
15	chr1:56106600-56107400	Enhancers	Fetal Kidney	kidney
16	chr1:56106600-56107400	Enhancers	Fetal Lung	lung
17	chr1:56106600-56107400	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr1:56106600-56107400	Flanking Active TSS	HSMMtube	muscle
19	chr1:56106600-56107400	Flanking Active TSS	NHDF-Ad	bronchial
20	chr1:56106800-56107400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:56106800-56107400	Bivalent/Poised TSS	HepG2	liver
22	chr1:56107000-56107400	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr1:56107000-56107400	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr1:56107000-56107400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr1:56107000-56107600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:56107000-56107600	Enhancers	Fetal Muscle Leg	muscle
27	chr1:56107000-56107600	Enhancers	HMEC	breast
28	chr1:56107000-56110800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:56107200-56107400	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr1:56107200-56107400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr1:56107200-56107400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:56107200-56107400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr1:56107200-56107400	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr1:56107200-56107400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr1:56107200-56107400	Flanking Active TSS	Brain Substantia Nigra	brain
36	chr1:56107200-56107400	Enhancers	Colon Smooth Muscle	Colon
37	chr1:56107200-56107400	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr1:56107200-56107400	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr1:56107200-56107400	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr1:56107200-56107400	Enhancers	GM12878-XiMat	blood
41	chr1:56107200-56107400	Enhancers	HUVEC	blood vessel
42	chr1:56107200-56107600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr1:56107200-56107600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:56107200-56107600	Enhancers	Primary B cells from peripheral blood	blood
45	chr1:56107200-56107600	Enhancers	Brain Cingulate Gyrus	brain
46	chr1:56107200-56107600	Enhancers	Osteobl	bone
47	chr1:56107200-56108200	Weak transcription	Ovary	ovary
48	chr1:56107200-56110800	Weak transcription	NHEK	skin
49	chr1:56107200-56115800	Weak transcription	Aorta	Aorta

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