Variant report

Variant	rs334631
Chromosome Location	chr2:179146446-179146447
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179140423..179143363-chr2:179145106..179148015,2	K562	blood:
2	chr2:179058189..179060134-chr2:179145387..179147817,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000079156	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs333992	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs333993	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs333994	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs333995	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs334002	0.85[EUR][1000 genomes]
rs334616	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs334623	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs334630	0.81[ASN][1000 genomes]
rs7599683	0.82[AMR][1000 genomes];0.82[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:48 , 50 per page) page: 1

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	chr2:179142800-179146600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:179142800-179146800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:179142800-179146800	Weak transcription	Brain Angular Gyrus	brain
8	chr2:179143000-179146600	Weak transcription	A549	lung
9	chr2:179143000-179146800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:179143000-179146800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:179143000-179146800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:179143000-179160200	Weak transcription	Fetal Kidney	kidney
13	chr2:179143200-179160800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:179143200-179188600	Weak transcription	Brain Anterior Caudate	brain
15	chr2:179143400-179146800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:179143600-179146600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:179144000-179146800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:179144000-179148400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:179144200-179163800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:179144400-179146800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:179144400-179153000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:179144400-179154600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:179144600-179146600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:179144600-179146600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:179144600-179146600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr2:179144600-179146600	Weak transcription	Hela-S3	cervix
27	chr2:179144600-179146600	Weak transcription	K562	blood
28	chr2:179144600-179146600	Weak transcription	Osteobl	bone
29	chr2:179144600-179146800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:179144600-179146800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:179144600-179146800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:179144600-179146800	Weak transcription	Psoas Muscle	Psoas
33	chr2:179144600-179147000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:179144600-179147000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:179144600-179149400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:179144600-179149600	Weak transcription	HSMMtube	muscle
37	chr2:179144600-179155000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:179144800-179146600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:179144800-179146600	Weak transcription	NHEK	skin
40	chr2:179145000-179146600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:179145000-179146600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:179145000-179146600	Weak transcription	NH-A	brain
43	chr2:179145000-179146800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:179145000-179159200	Weak transcription	Liver	Liver
45	chr2:179145200-179146600	Weak transcription	HUVEC	blood vessel
46	chr2:179145400-179146600	Weak transcription	HMEC	breast
47	chr2:179146000-179149800	Enhancers	Fetal Intestine Small	intestine
48	chr2:179146400-179150000	Enhancers	Fetal Intestine Large	intestine

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