Variant report

Variant	rs2435374
Chromosome Location	chr10:43637614-43637615
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:43634643..43637619-chr10:43638128..43641213,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10793423	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12358897	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1254961	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2115818	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2256550	0.90[ASN][1000 genomes]
rs2435341	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2435379	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2435380	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2505552	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2505556	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2565202	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2742236	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2914985	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2914986	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4648314	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7915431	0.90[ASN][1000 genomes]
rs9787519	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv1038102	chr10:43441601-43642908	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv895082	chr10:43530071-43755506	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv895083	chr10:43549708-43765485	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv1051701	chr10:43555542-43642895	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv916378	chr10:43622151-43868356	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1042310	chr10:43623060-43688505	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	nsv1043661	chr10:43626619-43890162	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription 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	17 gene(s)	inside rSNPs	diseases
10	nsv540574	chr10:43626619-43890162	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43634600-43637800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:43634800-43641000	Weak transcription	Stomach Mucosa	stomach
3	chr10:43634800-43646800	Weak transcription	Left Ventricle	heart
4	chr10:43634800-43652200	Weak transcription	Gastric	stomach
5	chr10:43635000-43638000	Enhancers	Primary T cells fromperipheralblood	blood
6	chr10:43635000-43639000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr10:43635000-43639600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:43635000-43641600	Weak transcription	Psoas Muscle	Psoas
9	chr10:43635200-43638800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr10:43635200-43641800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr10:43635400-43638400	Weak transcription	Colon Smooth Muscle	Colon
12	chr10:43635400-43639200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr10:43635400-43639600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr10:43635400-43641200	Weak transcription	Brain Substantia Nigra	brain
15	chr10:43635400-43642400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr10:43635400-43644200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr10:43635400-43655600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr10:43635600-43638400	Weak transcription	Brain Hippocampus Middle	brain
19	chr10:43635600-43639600	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr10:43635600-43647000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr10:43635600-43689000	Weak transcription	Esophagus	oesophagus
22	chr10:43635800-43638000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr10:43635800-43639000	Weak transcription	Fetal Brain Female	brain
24	chr10:43635800-43639600	Weak transcription	Brain Anterior Caudate	brain
25	chr10:43635800-43642000	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr10:43636000-43641800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr10:43636200-43638000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr10:43636200-43638200	Weak transcription	Brain Angular Gyrus	brain
29	chr10:43636200-43641600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr10:43636400-43638200	Enhancers	Thymus	Thymus
31	chr10:43636400-43639000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr10:43636400-43640200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr10:43636400-43647000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr10:43636600-43638000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr10:43636600-43638200	Enhancers	Primary T cells from cord blood	blood
36	chr10:43636600-43638200	Enhancers	Dnd41	blood
37	chr10:43636600-43638600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr10:43636600-43638600	Enhancers	Primary B cells from cord blood	blood
39	chr10:43636600-43638600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr10:43636600-43639000	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr10:43636600-43639400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr10:43636600-43639400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr10:43636600-43640400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr10:43636600-43640600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr10:43636600-43641000	Weak transcription	A549	lung
46	chr10:43636600-43641400	Weak transcription	Brain Germinal Matrix	brain
47	chr10:43636600-43641800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr10:43636600-43642200	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr10:43636600-43646800	Weak transcription	NHLF	lung
50	chr10:43636600-43654800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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