Variant report

Variant	rs10167889
Chromosome Location	chr2:179144502-179144503
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:179134962..179137702-chr2:179142428..179144943,2	K562	blood:
2	chr2:178996751..178997649-chr2:179144316..179145071,2	MCF-7	breast:
3	chr2:179058030..179060650-chr2:179143594..179145205,2	K562	blood:
4	chr2:179140566..179142281-chr2:179143545..179145094,2	K562	blood:

Variant related genes	Relation type
ENSG00000079156	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12467696	1.00[EUR][1000 genomes]
rs12471986	0.86[EUR][1000 genomes]
rs1992753	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4893850	0.81[EUR][1000 genomes]
rs4894005	0.86[EUR][1000 genomes]
rs4894006	0.99[EUR][1000 genomes]
rs62176069	0.87[EUR][1000 genomes]
rs62176070	0.87[EUR][1000 genomes]
rs62176071	0.83[EUR][1000 genomes]
rs62176072	0.83[EUR][1000 genomes]
rs62176076	0.81[EUR][1000 genomes]
rs62176078	0.81[EUR][1000 genomes]
rs62177255	0.82[EUR][1000 genomes]
rs62177256	0.98[EUR][1000 genomes]
rs62177257	1.00[EUR][1000 genomes]
rs62179160	0.86[EUR][1000 genomes]
rs62179161	0.86[EUR][1000 genomes]
rs62179162	0.97[EUR][1000 genomes]
rs62179163	0.99[EUR][1000 genomes]
rs62179164	0.99[EUR][1000 genomes]
rs62179165	0.86[EUR][1000 genomes]
rs62179167	0.97[EUR][1000 genomes]
rs6433718	0.86[EUR][1000 genomes]
rs6743122	0.86[EUR][1000 genomes]
rs73032523	0.83[EUR][1000 genomes]
rs7349264	0.87[EUR][1000 genomes]
rs7559125	0.83[EUR][1000 genomes]
rs7559527	0.83[EUR][1000 genomes]
rs7570485	0.83[EUR][1000 genomes]
rs7599195	0.81[EUR][1000 genomes]
rs9808049	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1011423	chr2:179084407-179166160	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv834466	chr2:179140792-179284778	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179133800-179146800	Weak transcription	Esophagus	oesophagus
2	chr2:179136800-179146800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:179141000-179146800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:179141200-179146800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:179141600-179145600	Enhancers	Fetal Intestine Small	intestine
6	chr2:179142000-179144600	Enhancers	HSMM	muscle
7	chr2:179142200-179144600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:179142200-179144600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:179142400-179144600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:179142400-179144600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:179142400-179144600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:179142400-179144800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:179142400-179145000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:179142400-179145000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:179142400-179145200	Enhancers	Fetal Intestine Large	intestine
16	chr2:179142400-179145200	Enhancers	NHDF-Ad	bronchial
17	chr2:179142600-179144600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:179142600-179144600	Enhancers	Placenta Amnion	Placenta Amnion
19	chr2:179142800-179144800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:179142800-179145200	Enhancers	HUVEC	blood vessel
21	chr2:179142800-179146600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:179142800-179146800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:179142800-179146800	Weak transcription	Brain Angular Gyrus	brain
24	chr2:179143000-179144600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:179143000-179144600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:179143000-179144600	Enhancers	Osteobl	bone
27	chr2:179143000-179145000	Enhancers	Liver	Liver
28	chr2:179143000-179145000	Enhancers	NH-A	brain
29	chr2:179143000-179146600	Weak transcription	A549	lung
30	chr2:179143000-179146800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr2:179143000-179146800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:179143000-179146800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr2:179143000-179160200	Weak transcription	Fetal Kidney	kidney
34	chr2:179143200-179144600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:179143200-179144600	Enhancers	K562	blood
36	chr2:179143200-179144800	Enhancers	HepG2	liver
37	chr2:179143200-179160800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:179143200-179188600	Weak transcription	Brain Anterior Caudate	brain
39	chr2:179143400-179146800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:179143600-179144600	Enhancers	Hela-S3	cervix
41	chr2:179143600-179144800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:179143600-179145400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:179143600-179146600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:179144000-179144600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:179144000-179144600	Enhancers	Psoas Muscle	Psoas
46	chr2:179144000-179144600	Enhancers	HSMMtube	muscle
47	chr2:179144000-179146800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr2:179144000-179148400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr2:179144200-179144600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:179144200-179144600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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