Variant report

Variant	rs73913928
Chromosome Location	chr2:10093003-10093004
allele	A/G
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:9982271..9986804-chr2:10090021..10093067,7	K562	blood:
2	chr2:10091739..10097867-chr2:10098252..10106254,13	K562	blood:
3	chr2:9982092..9985559-chr2:10088577..10093200,6	MCF-7	breast:
4	chr2:10092110..10094474-chr2:10182208..10184991,2	K562	blood:
5	chr2:10090913..10094433-chr2:10181887..10185131,5	K562	blood:
6	chr2:10091367..10094043-chr2:10260841..10262617,2	K562	blood:
7	chr2:10090511..10093177-chr2:10182491..10184266,3	MCF-7	breast:
8	chr2:9777094..9779295-chr2:10091033..10093180,2	MCF-7	breast:
9	chr2:9932897..9935597-chr2:10092783..10094532,2	MCF-7	breast:
10	chr2:9982271..9985181-chr2:10090033..10093358,4	K562	blood:
11	chr2:9938284..9940065-chr2:10092605..10094538,2	MCF-7	breast:
12	chr2:10090160..10094173-chr2:10181224..10185885,6	MCF-7	breast:
13	chr2:9983066..9987186-chr2:10091615..10095343,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000134317	Chromatin interaction
ENSG00000171848	Chromatin interaction
ENSG00000240687	Chromatin interaction
ENSG00000115750	Chromatin interaction
ENSG00000172059	Chromatin interaction
ENSG00000272524	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16867260	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16867277	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41264179	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59015435	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73913932	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7575106	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats 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	83 gene(s)	inside rSNPs	diseases
5	nsv1002769	chr2:10064511-10157028	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	esv3369173	chr2:10090451-10093249	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	esv3326017	chr2:10090726-10093274	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10090800-10093400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:10090800-10093400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr2:10090800-10093600	Active TSS	Esophagus	oesophagus
4	chr2:10091000-10093200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:10091000-10093400	Active TSS	Placenta Amnion	Placenta Amnion
6	chr2:10091200-10094000	Active TSS	Placenta	Placenta
7	chr2:10092200-10093400	Flanking Active TSS	Dnd41	blood
8	chr2:10092200-10095600	Bivalent Enhancer	Fetal Lung	lung
9	chr2:10092400-10093200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
10	chr2:10092400-10093200	Flanking Active TSS	Hela-S3	cervix
11	chr2:10092400-10093200	Flanking Active TSS	K562	blood
12	chr2:10092400-10093200	Bivalent/Poised TSS	NHDF-Ad	bronchial
13	chr2:10092400-10093800	Flanking Active TSS	Liver	Liver
14	chr2:10092600-10093200	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:10092600-10093200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
16	chr2:10092600-10093200	Bivalent Enhancer	Primary B cells from cord blood	blood
17	chr2:10092600-10093200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
18	chr2:10092600-10093200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:10092600-10093200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
20	chr2:10092600-10093200	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr2:10092600-10094400	Weak transcription	Pancreas	Pancrea
22	chr2:10092600-10094600	Weak transcription	Gastric	stomach
23	chr2:10092600-10104200	Weak transcription	Lung	lung
24	chr2:10092600-10112600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:10092600-10113400	Weak transcription	Left Ventricle	heart
26	chr2:10092800-10093200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:10092800-10093200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
28	chr2:10092800-10093200	Active TSS	Adipose Nuclei	Adipose
29	chr2:10092800-10093200	Active TSS	Aorta	Aorta
30	chr2:10092800-10093200	Enhancers	Brain Anterior Caudate	brain
31	chr2:10092800-10093200	Enhancers	Brain Substantia Nigra	brain
32	chr2:10092800-10093600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr2:10092800-10093600	Flanking Active TSS	HepG2	liver
34	chr2:10092800-10094400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr2:10092800-10094600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:10092800-10101000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:10092800-10101200	Weak transcription	Brain Angular Gyrus	brain
38	chr2:10092800-10110600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:10093000-10093200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
40	chr2:10093000-10093200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:10093000-10093200	Bivalent Enhancer	Brain Germinal Matrix	brain
42	chr2:10093000-10093200	Bivalent Enhancer	Stomach Mucosa	stomach
43	chr2:10093000-10094400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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