Variant report

Variant	rs73074830
Chromosome Location	chr3:49577017-49577018
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:49575867..49578786-chr3:49708422..49711347,4	K562	blood:
2	chr3:49576104..49578514-chr3:49684857..49687792,2	MCF-7	breast:
3	chr3:49575786..49578987-chr3:49707977..49712490,8	MCF-7	breast:
4	chr3:49573308..49575381-chr3:49575652..49577687,3	K562	blood:
5	chr3:49576405..49578999-chr3:49581800..49584941,3	K562	blood:
6	chr3:49576958..49577768-chr3:49740601..49741371,2	K562	blood:
7	chr3:49575972..49578026-chr3:49699559..49702173,2	K562	blood:
8	chr3:49576201..49578760-chr3:49706386..49709294,3	MCF-7	breast:
9	chr3:49576858..49578074-chr3:49708760..49709826,8	K562	blood:
10	chr3:49576877..49577439-chr3:49693908..49694498,2	K562	blood:
11	chr3:49576717..49578036-chr3:49708771..49709800,6	MCF-7	breast:
12	chr3:49576811..49578018-chr3:49708915..49709864,14	MCF-7	breast:
13	chr3:49576883..49577589-chr3:49694011..49694826,2	MCF-7	breast:
14	chr3:49573308..49575381-chr3:49575652..49577242,2	K562	blood:
15	chr3:49576824..49578736-chr3:49583122..49584807,2	MCF-7	breast:
16	chr3:49576628..49579352-chr3:49585412..49588058,3	K562	blood:
17	chr3:49574299..49577116-chr3:49756241..49758538,2	K562	blood:
18	chr3:49575966..49579494-chr3:49711391..49714969,5	K562	blood:
19	chr3:49576046..49579272-chr3:49710812..49713330,3	K562	blood:
20	chr3:49575816..49577786-chr3:49710626..49712248,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164068	Chromatin interaction
ENSG00000176020	Chromatin interaction
ENSG00000164062	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs6774721	1.00[ASN][1000 genomes]
rs73073005	1.00[ASN][1000 genomes]
rs73073007	1.00[ASN][1000 genomes]
rs73074855	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077107	1.00[ASN][1000 genomes]
rs73077157	1.00[ASN][1000 genomes]
rs73079003	1.00[ASN][1000 genomes]
rs73079014	1.00[ASN][1000 genomes]
rs73088122	1.00[ASN][1000 genomes]
rs73088161	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7623687	1.00[ASN][1000 genomes]
rs7638643	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834687	chr3:49448632-49631788	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49548400-49577400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr3:49569800-49577400	Weak transcription	Fetal Kidney	kidney
3	chr3:49570200-49577200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr3:49570200-49577400	Weak transcription	Small Intestine	intestine
5	chr3:49570400-49577400	Weak transcription	GM12878-XiMat	blood
6	chr3:49570600-49577400	Weak transcription	HUVEC	blood vessel
7	chr3:49570800-49577200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr3:49570800-49577400	Weak transcription	Aorta	Aorta
9	chr3:49571000-49577400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr3:49571200-49577400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:49571200-49577400	Weak transcription	Primary B cells from cord blood	blood
12	chr3:49571200-49577400	Weak transcription	A549	lung
13	chr3:49571400-49577200	Weak transcription	Primary T cells from cord blood	blood
14	chr3:49571400-49577400	Weak transcription	Lung	lung
15	chr3:49571600-49577200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr3:49571600-49577400	Weak transcription	Esophagus	oesophagus
17	chr3:49571600-49577400	Weak transcription	Left Ventricle	heart
18	chr3:49572200-49577200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr3:49572200-49577400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr3:49573000-49577400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:49573400-49577400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:49573400-49577600	Weak transcription	Gastric	stomach
23	chr3:49573600-49577400	Weak transcription	Psoas Muscle	Psoas
24	chr3:49573800-49577400	Weak transcription	NH-A	brain
25	chr3:49573800-49577400	Weak transcription	NHLF	lung
26	chr3:49573800-49577600	Weak transcription	Fetal Brain Male	brain
27	chr3:49574200-49577400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr3:49574200-49577400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr3:49574200-49577400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr3:49574400-49577400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr3:49574400-49577400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr3:49574600-49577200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr3:49574600-49577400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:49574600-49577400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:49574600-49577400	Weak transcription	Ovary	ovary
36	chr3:49574600-49577400	Weak transcription	Osteobl	bone
37	chr3:49576200-49577400	Enhancers	Liver	Liver
38	chr3:49576600-49577400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr3:49576800-49577200	Enhancers	Primary T cells fromperipheralblood	blood
40	chr3:49576800-49577200	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr3:49576800-49577200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr3:49576800-49577200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr3:49576800-49577200	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr3:49576800-49577200	Enhancers	Fetal Muscle Trunk	muscle
45	chr3:49576800-49577200	Enhancers	Fetal Thymus	thymus
46	chr3:49576800-49577200	Flanking Active TSS	Hela-S3	cervix
47	chr3:49576800-49577200	Flanking Active TSS	HepG2	liver
48	chr3:49576800-49577400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr3:49576800-49577400	Enhancers	Brain Hippocampus Middle	brain
50	chr3:49576800-49577400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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