Variant report

Variant	rs34980163
Chromosome Location	chr2:187501447-187501448
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:187497162..187500369-chr2:187500989..187503573,4	MCF-7	breast:
2	chr2:187453625..187456390-chr2:187498410..187502710,4	K562	blood:
3	chr2:187499878..187502863-chr2:187506604..187509520,2	K562	blood:

Variant related genes	Relation type
ENSG00000138448	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11678190	0.83[EUR][1000 genomes]
rs11685758	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12151442	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12615659	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12998294	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13001028	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13006483	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13016261	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13027560	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13028817	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1448424	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17334303	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1839121	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1839123	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1839124	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2084448	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34483988	0.84[EUR][1000 genomes]
rs35251833	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3816386	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56136540	0.99[ASN][1000 genomes]
rs6748509	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6753438	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7419327	0.81[ASN][1000 genomes]
rs7575516	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7589470	0.93[ASN][1000 genomes]
rs9333289	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9333290	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv875552	chr2:187393729-187505486	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187456200-187508600	Weak transcription	Esophagus	oesophagus
2	chr2:187456200-187533000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:187456400-187504000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:187456600-187514000	Weak transcription	Thymus	Thymus
5	chr2:187456600-187520000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:187456800-187534400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:187457200-187506000	Weak transcription	Liver	Liver
8	chr2:187457200-187533800	Weak transcription	Spleen	Spleen
9	chr2:187458000-187511400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr2:187458000-187529000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:187459400-187505600	Weak transcription	NHLF	lung
12	chr2:187460200-187506200	Weak transcription	Small Intestine	intestine
13	chr2:187462800-187515400	Weak transcription	Gastric	stomach
14	chr2:187464800-187536200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:187465800-187529200	Weak transcription	Dnd41	blood
16	chr2:187466800-187533200	Weak transcription	Colonic Mucosa	Colon
17	chr2:187467200-187528600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:187467400-187515800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr2:187467600-187506000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:187468800-187504000	Weak transcription	NHDF-Ad	bronchial
21	chr2:187469000-187501800	Weak transcription	Fetal Intestine Small	intestine
22	chr2:187471400-187502200	Weak transcription	NHEK	skin
23	chr2:187471600-187521000	Weak transcription	Aorta	Aorta
24	chr2:187476000-187519800	Weak transcription	K562	blood
25	chr2:187476600-187508600	Weak transcription	Lung	lung
26	chr2:187476800-187536200	Weak transcription	Fetal Brain Male	brain
27	chr2:187477400-187502400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:187478600-187502600	Weak transcription	GM12878-XiMat	blood
29	chr2:187482200-187533800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:187482800-187506000	Weak transcription	Fetal Kidney	kidney
31	chr2:187482800-187519600	Weak transcription	Brain Anterior Caudate	brain
32	chr2:187482800-187527800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:187482800-187533200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:187482800-187533600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr2:187482800-187533800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:187482800-187533800	Weak transcription	Psoas Muscle	Psoas
37	chr2:187483200-187502400	Weak transcription	Colon Smooth Muscle	Colon
38	chr2:187483400-187519800	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:187486400-187506000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr2:187486600-187531400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:187487200-187506200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr2:187487800-187510800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr2:187489200-187502400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:187489200-187503000	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr2:187489200-187504000	Weak transcription	Fetal Muscle Leg	muscle
46	chr2:187489200-187504000	Weak transcription	Right Ventricle	heart
47	chr2:187489400-187502400	Weak transcription	Adipose Nuclei	Adipose
48	chr2:187489400-187503600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:187489400-187504000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:187489400-187504200	Weak transcription	Fetal Thymus	thymus

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