Variant report

Variant	rs73751339
Chromosome Location	chr5:14314111-14314112
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14309077..14311493-chr5:14313266..14316028,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10062034	0.83[AMR][1000 genomes]
rs10076925	0.83[AMR][1000 genomes]
rs16903350	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903376	0.96[AFR][1000 genomes]
rs16903399	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16903467	0.83[AMR][1000 genomes]
rs2015269	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55750919	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55754427	0.83[AMR][1000 genomes]
rs55773296	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56114434	0.83[AMR][1000 genomes]
rs56141029	0.83[AMR][1000 genomes]
rs56227025	0.83[AMR][1000 genomes]
rs56664186	0.83[AMR][1000 genomes]
rs56712870	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs57560019	0.83[AMR][1000 genomes]
rs57764801	0.94[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58897996	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59499572	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59853866	0.83[AMR][1000 genomes]
rs60077210	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60568524	0.90[AFR][1000 genomes]
rs61396062	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61509800	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6868596	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73748806	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73748810	0.80[AFR][1000 genomes]
rs73748811	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73749082	0.80[AFR][1000 genomes];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	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751318	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751322	0.83[AMR][1000 genomes]
rs73751323	0.83[AMR][1000 genomes]
rs73751327	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751329	0.83[AMR][1000 genomes]
rs73751335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751337	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751342	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7703674	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7705426	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7713114	0.96[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:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	esv2421652	chr5:14312802-14316381	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv442938	chr5:14312802-14316381	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3333747	chr5:14314079-14314413	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14278000-14341200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:14283000-14319400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:14286200-14320400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:14286400-14321000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:14286600-14314400	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:14287000-14315000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr5:14288000-14324000	Strong transcription	Primary B cells from peripheral blood	blood
8	chr5:14290800-14321200	Strong transcription	Primary B cells from cord blood	blood
9	chr5:14291400-14316600	Weak transcription	Thymus	Thymus
10	chr5:14297800-14316600	Weak transcription	Brain Substantia Nigra	brain
11	chr5:14298000-14316600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:14298000-14316600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr5:14299000-14314400	Strong transcription	Adipose Nuclei	Adipose
14	chr5:14299200-14315400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:14300000-14316800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:14303600-14314400	Strong transcription	GM12878-XiMat	blood
17	chr5:14303800-14314400	Strong transcription	Liver	Liver
18	chr5:14303800-14323600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:14304000-14323800	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr5:14304200-14319400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:14304200-14321800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr5:14305000-14315000	Strong transcription	HMEC	breast
23	chr5:14305400-14326800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:14305600-14316400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:14305600-14316600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr5:14305600-14316600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr5:14305600-14317600	Strong transcription	HUVEC	blood vessel
28	chr5:14305600-14321200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:14306600-14315200	Strong transcription	A549	lung
30	chr5:14306800-14314200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:14306800-14316400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:14307000-14314200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:14307000-14316400	Weak transcription	Brain Hippocampus Middle	brain
34	chr5:14307600-14316600	Weak transcription	Brain Angular Gyrus	brain
35	chr5:14307600-14316800	Weak transcription	Primary T cells from cord blood	blood
36	chr5:14307600-14321400	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr5:14307600-14321400	Strong transcription	NH-A	brain
38	chr5:14307800-14316400	Weak transcription	Esophagus	oesophagus
39	chr5:14308400-14314400	Strong transcription	NHDF-Ad	bronchial
40	chr5:14308600-14316400	Weak transcription	Ovary	ovary
41	chr5:14309000-14314200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:14309000-14315400	Strong transcription	Fetal Intestine Large	intestine
43	chr5:14309000-14316200	Weak transcription	Fetal Kidney	kidney
44	chr5:14309200-14321200	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr5:14309600-14326600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:14309800-14314200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr5:14310000-14314200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:14310000-14316400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr5:14310200-14322200	Weak transcription	Fetal Brain Male	brain
50	chr5:14310400-14318800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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