Variant report

Variant	rs55821064
Chromosome Location	chr5:126879894-126879895
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:126879845-126879970	ProgFib	skin:	n/a	n/a

Variant related genes	Relation type
PRRC1	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10491250	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519947	0.81[EUR][1000 genomes]
rs12110288	1.00[EUR][1000 genomes]
rs17164824	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164828	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164854	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17839687	0.81[EUR][1000 genomes]
rs2108888	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41298316	0.88[EUR][1000 genomes]
rs56157640	0.88[EUR][1000 genomes]
rs60681812	0.88[EUR][1000 genomes]
rs60998265	0.88[EUR][1000 genomes]
rs6892624	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73348744	0.88[EUR][1000 genomes]
rs7728864	0.81[EUR][1000 genomes]
rs929781	0.88[EUR][1000 genomes]
rs929782	0.88[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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv830479	chr5:126849254-127053121	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126855400-126883200	Weak transcription	Stomach Mucosa	stomach
2	chr5:126860600-126880000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:126860600-126889400	Weak transcription	Esophagus	oesophagus
4	chr5:126869600-126880000	Weak transcription	Fetal Intestine Small	intestine
5	chr5:126870600-126898000	Weak transcription	Colon Smooth Muscle	Colon
6	chr5:126871000-126892800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr5:126871200-126880000	Weak transcription	Fetal Stomach	stomach
8	chr5:126871200-126883600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:126871200-126889400	Weak transcription	Aorta	Aorta
10	chr5:126871200-126889400	Weak transcription	Gastric	stomach
11	chr5:126871200-126889400	Weak transcription	Pancreas	Pancrea
12	chr5:126871200-126889400	Weak transcription	Spleen	Spleen
13	chr5:126871200-126896800	Weak transcription	Colonic Mucosa	Colon
14	chr5:126871400-126880000	Weak transcription	Thymus	Thymus
15	chr5:126871400-126887600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr5:126871400-126891600	Weak transcription	Right Ventricle	heart
17	chr5:126871600-126880000	Weak transcription	Lung	lung
18	chr5:126871600-126887400	Weak transcription	Brain Angular Gyrus	brain
19	chr5:126871600-126888000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr5:126871600-126889000	Weak transcription	Small Intestine	intestine
21	chr5:126871800-126901400	Weak transcription	Brain Substantia Nigra	brain
22	chr5:126875200-126880000	Weak transcription	Ovary	ovary
23	chr5:126875200-126886400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr5:126875200-126887400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr5:126875400-126883400	Weak transcription	HMEC	breast
26	chr5:126875600-126887400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:126875600-126889000	Weak transcription	NHEK	skin
28	chr5:126875800-126880200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr5:126875800-126883000	Weak transcription	HepG2	liver
30	chr5:126875800-126887400	Weak transcription	Brain Hippocampus Middle	brain
31	chr5:126875800-126887400	Weak transcription	Fetal Kidney	kidney
32	chr5:126875800-126887400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr5:126875800-126889600	Weak transcription	Psoas Muscle	Psoas
34	chr5:126876000-126880000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:126876000-126880000	Weak transcription	Left Ventricle	heart
36	chr5:126876000-126881600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr5:126876000-126885600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr5:126876000-126886200	Weak transcription	Brain Anterior Caudate	brain
39	chr5:126876000-126891400	Weak transcription	Fetal Heart	heart
40	chr5:126876000-126898000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr5:126876200-126881600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr5:126876200-126884800	Weak transcription	NHLF	lung
43	chr5:126876200-126887400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:126876400-126880000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr5:126876400-126880000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:126876400-126880000	Weak transcription	Brain Germinal Matrix	brain
47	chr5:126876400-126880000	Weak transcription	Fetal Thymus	thymus
48	chr5:126876400-126881400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr5:126876400-126881400	Weak transcription	HSMM	muscle
50	chr5:126876400-126881600	Weak transcription	NH-A	brain

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