Variant report

Variant	rs61509800
Chromosome Location	chr5:14261569-14261570
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	chr5:14260701..14263279-chr5:14263395..14266329,3	K562	blood:
2	chr5:14257321..14259050-chr5:14260298..14262168,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10062034	0.83[AMR][1000 genomes]
rs10076925	0.83[AMR][1000 genomes]
rs16903321	0.87[AFR][1000 genomes]
rs16903322	0.87[AFR][1000 genomes]
rs16903350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903376	0.92[AFR][1000 genomes]
rs16903399	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16903467	0.83[AMR][1000 genomes]
rs2015269	0.83[AMR][1000 genomes]
rs55750919	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55754427	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55773296	0.83[AMR][1000 genomes]
rs56114434	0.83[AMR][1000 genomes]
rs56140232	0.85[AFR][1000 genomes]
rs56141029	0.83[AMR][1000 genomes]
rs56227025	0.83[AMR][1000 genomes]
rs56664186	0.83[AMR][1000 genomes]
rs56712870	0.83[AMR][1000 genomes]
rs57560019	0.83[AMR][1000 genomes]
rs57764801	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57974400	0.83[AMR][1000 genomes]
rs58324829	0.83[AMR][1000 genomes]
rs58443103	0.83[AMR][1000 genomes]
rs58716074	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58897996	0.83[AMR][1000 genomes]
rs59499572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59853866	0.83[AMR][1000 genomes]
rs60077210	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60568524	0.83[AFR][1000 genomes]
rs61011080	0.85[AFR][1000 genomes]
rs61396062	0.83[AMR][1000 genomes]
rs61665335	0.85[AFR][1000 genomes]
rs6868596	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73748687	0.80[AFR][1000 genomes]
rs73748806	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73748811	0.83[AMR][1000 genomes]
rs73749082	0.83[AMR][1000 genomes]
rs73749083	0.83[AMR][1000 genomes]
rs73749085	0.83[AMR][1000 genomes]
rs73749234	0.83[AMR][1000 genomes]
rs73749235	0.83[AMR][1000 genomes]
rs73751311	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751322	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751323	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751329	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751335	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751336	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751337	0.83[AMR][1000 genomes]
rs73751338	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751339	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751340	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751342	0.85[AMR][1000 genomes]
rs7703674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7705426	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7713114	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7716460	0.83[AMR][1000 genomes]
rs7723309	0.83[AMR][1000 genomes]
rs7724084	0.83[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	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14253800-14264400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:14255400-14262400	Enhancers	HUVEC	blood vessel
3	chr5:14256200-14264200	Enhancers	H1 Cell Line	embryonic stem cell
4	chr5:14256400-14265400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:14256600-14264400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:14256800-14261800	Enhancers	Colon Smooth Muscle	Colon
7	chr5:14257000-14264600	Enhancers	NH-A	brain
8	chr5:14257200-14264800	Weak transcription	Stomach Mucosa	stomach
9	chr5:14257200-14265000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:14257600-14261800	Weak transcription	Brain Angular Gyrus	brain
11	chr5:14258200-14261800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:14258400-14264600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr5:14258600-14261800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:14258800-14264400	Weak transcription	Fetal Intestine Small	intestine
15	chr5:14258800-14265000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr5:14259000-14261800	Enhancers	NHLF	lung
17	chr5:14259000-14264600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr5:14259000-14264600	Weak transcription	Fetal Brain Male	brain
19	chr5:14259000-14268400	Weak transcription	Esophagus	oesophagus
20	chr5:14259200-14262000	Weak transcription	Pancreas	Pancrea
21	chr5:14259200-14262200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:14259200-14263400	Weak transcription	HepG2	liver
23	chr5:14259200-14263800	Weak transcription	Primary B cells from cord blood	blood
24	chr5:14259200-14264400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr5:14259200-14264600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr5:14259200-14264600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr5:14259200-14264600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr5:14259200-14264600	Enhancers	Brain Germinal Matrix	brain
29	chr5:14259200-14264600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr5:14259200-14264600	Weak transcription	Psoas Muscle	Psoas
31	chr5:14259200-14264600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr5:14259200-14264600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr5:14259200-14265000	Weak transcription	Colonic Mucosa	Colon
34	chr5:14259200-14267400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr5:14259200-14268400	Weak transcription	Spleen	Spleen
36	chr5:14259200-14268600	Weak transcription	Gastric	stomach
37	chr5:14259400-14262400	Weak transcription	Ovary	ovary
38	chr5:14259400-14264400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:14259600-14263800	Enhancers	A549	lung
40	chr5:14259600-14264600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr5:14259600-14264800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr5:14259600-14265000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr5:14259800-14262000	Weak transcription	HMEC	breast
44	chr5:14259800-14262800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:14259800-14263200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:14259800-14264800	Weak transcription	Brain Hippocampus Middle	brain
47	chr5:14260000-14262200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr5:14260000-14263800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr5:14260000-14264000	Genic enhancers	HSMM	muscle
50	chr5:14260000-14264600	Enhancers	HUES64 Cell Line	embryonic stem cell

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