Variant report

Variant	rs73751749
Chromosome Location	chr5:43572609-43572610
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43566514..43568938-chr5:43571221..43572820,2	K562	blood:
2	chr5:43555077..43559335-chr5:43568297..43574840,9	MCF-7	breast:
3	chr5:43555648..43560164-chr5:43568493..43574062,6	MCF-7	breast:
4	chr5:43553205..43562648-chr5:43565710..43576086,17	K562	blood:
5	chr5:43571768..43573353-chr5:43599438..43601590,2	K562	blood:
6	chr5:43571687..43573439-chr5:43598421..43600933,2	MCF-7	breast:
7	chr5:43558879..43560844-chr5:43571718..43573833,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NNT-5	chr5:43571510-43577741	NONHSAT101320

No data

Variant related genes	Relation type
ENSG00000172239	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10044743	1.00[ASN][1000 genomes]
rs10051788	1.00[ASN][1000 genomes]
rs10052717	1.00[AMR][1000 genomes]
rs10054154	1.00[AMR][1000 genomes]
rs10054206	1.00[AMR][1000 genomes]
rs10054311	1.00[ASN][1000 genomes]
rs10058837	1.00[AMR][1000 genomes]
rs10065095	1.00[AMR][1000 genomes]
rs10067068	1.00[AMR][1000 genomes]
rs10067571	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10071090	1.00[ASN][1000 genomes]
rs10074298	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10078602	1.00[AMR][1000 genomes]
rs10085107	1.00[ASN][1000 genomes]
rs10472384	1.00[AFR][1000 genomes]
rs10472385	1.00[AMR][1000 genomes]
rs10473314	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10473317	1.00[AMR][1000 genomes]
rs13155023	1.00[ASN][1000 genomes]
rs13357169	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13359176	1.00[AMR][1000 genomes]
rs13436624	1.00[AMR][1000 genomes]
rs16873315	1.00[ASN][1000 genomes]
rs28368979	1.00[ASN][1000 genomes]
rs28412681	1.00[ASN][1000 genomes]
rs28451719	1.00[ASN][1000 genomes]
rs28502686	1.00[ASN][1000 genomes]
rs28629332	1.00[AMR][1000 genomes]
rs28710329	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34574158	1.00[ASN][1000 genomes]
rs35748848	1.00[ASN][1000 genomes]
rs36097388	1.00[ASN][1000 genomes]
rs4616901	1.00[ASN][1000 genomes]
rs56222737	1.00[AMR][1000 genomes]
rs56729517	1.00[ASN][1000 genomes]
rs58107242	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58142433	1.00[ASN][1000 genomes]
rs58622160	1.00[ASN][1000 genomes]
rs58623090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59405308	1.00[AMR][1000 genomes]
rs59604594	1.00[AMR][1000 genomes]
rs59661208	1.00[AMR][1000 genomes]
rs59750428	1.00[AMR][1000 genomes]
rs60376053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6883158	1.00[AMR][1000 genomes]
rs6897604	1.00[ASN][1000 genomes]
rs71629106	1.00[ASN][1000 genomes]
rs73751088	1.00[ASN][1000 genomes]
rs73751089	1.00[ASN][1000 genomes]
rs73751704	1.00[ASN][1000 genomes]
rs73751705	1.00[ASN][1000 genomes]
rs73751745	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73751779	0.95[AFR][1000 genomes]
rs73751782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751785	1.00[AMR][1000 genomes]
rs73751787	1.00[AMR][1000 genomes]
rs73751793	1.00[AMR][1000 genomes]
rs73751795	1.00[AMR][1000 genomes]
rs73751798	1.00[AMR][1000 genomes]
rs73751801	1.00[AMR][1000 genomes]
rs73753610	1.00[AMR][1000 genomes]
rs73753611	1.00[AMR][1000 genomes]
rs73754741	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73754743	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7701080	1.00[AMR][1000 genomes]
rs7702908	1.00[AMR][1000 genomes]
rs7719138	1.00[AMR][1000 genomes]
rs7732460	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9292885	1.00[ASN][1000 genomes]
rs9292889	1.00[AMR][1000 genomes]
rs9292890	1.00[AMR][1000 genomes]
rs9654395	0.95[AFR][1000 genomes];1.00[AMR][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	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv3471239	chr5:43541792-43587904	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
5	esv3471240	chr5:43541792-43587904	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43557800-43584600	Weak transcription	Psoas Muscle	Psoas
2	chr5:43560200-43584400	Weak transcription	K562	blood
3	chr5:43564000-43574800	Weak transcription	Fetal Intestine Small	intestine
4	chr5:43564600-43575000	Weak transcription	Fetal Stomach	stomach
5	chr5:43564600-43580200	Weak transcription	Fetal Kidney	kidney
6	chr5:43564800-43575400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:43565400-43579000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:43565400-43601800	Weak transcription	Fetal Thymus	thymus
9	chr5:43565600-43575000	Weak transcription	Fetal Muscle Leg	muscle
10	chr5:43565600-43581800	Weak transcription	Dnd41	blood
11	chr5:43566200-43590400	Weak transcription	Thymus	Thymus
12	chr5:43566400-43580200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:43566800-43586000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:43567000-43575000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:43567000-43575200	Weak transcription	Primary T cells from cord blood	blood
16	chr5:43567200-43575200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:43567200-43575200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:43567200-43577000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:43567400-43602000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr5:43568000-43601800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr5:43568000-43602400	Weak transcription	Pancreas	Pancrea
22	chr5:43568400-43581800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:43568600-43601800	Weak transcription	Fetal Brain Female	brain
24	chr5:43569000-43601400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr5:43569200-43591800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr5:43569400-43574600	Enhancers	Fetal Heart	heart
27	chr5:43570000-43582000	Weak transcription	Liver	Liver
28	chr5:43570200-43581600	Weak transcription	Left Ventricle	heart
29	chr5:43570200-43601800	Weak transcription	Right Ventricle	heart
30	chr5:43570600-43574400	Enhancers	Fetal Lung	lung
31	chr5:43570600-43577200	Weak transcription	Primary B cells from cord blood	blood
32	chr5:43571200-43574800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr5:43571400-43572800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr5:43571800-43573000	Enhancers	Rectal Smooth Muscle	rectum
35	chr5:43572000-43573000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr5:43572000-43573000	Enhancers	Adipose Nuclei	Adipose
37	chr5:43572000-43573600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:43572000-43573600	Enhancers	Osteobl	bone
39	chr5:43572000-43574000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:43572000-43579600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr5:43572000-43591800	Weak transcription	Aorta	Aorta
42	chr5:43572000-43602400	Weak transcription	Ovary	ovary
43	chr5:43572200-43572800	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr5:43572200-43573000	Enhancers	HSMMtube	muscle
45	chr5:43572200-43574000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:43572200-43574200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:43572400-43572800	Enhancers	Colon Smooth Muscle	Colon
48	chr5:43572400-43572800	Enhancers	GM12878-XiMat	blood
49	chr5:43572400-43573800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr5:43572400-43582600	Weak transcription	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links