Variant report

Variant	rs73751336
Chromosome Location	chr5:14306106-14306107
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14304339..14306802-chr5:14309090..14311429,2	MCF-7	breast:
2	chr5:14298239..14300379-chr5:14303550..14306461,2	MCF-7	breast:
3	chr5:14305343..14307454-chr5:14308968..14310631,2	K562	blood:

Extended variants
information (count: 58 )
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]
rs73751337	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751339	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:3 , 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

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14270400-14313600	Weak transcription	Small Intestine	intestine
2	chr5:14278000-14341200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:14283000-14319400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:14286200-14320400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:14286400-14321000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:14286600-14314400	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:14287000-14315000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr5:14288000-14324000	Strong transcription	Primary B cells from peripheral blood	blood
9	chr5:14290800-14321200	Strong transcription	Primary B cells from cord blood	blood
10	chr5:14291400-14316600	Weak transcription	Thymus	Thymus
11	chr5:14291600-14308400	Weak transcription	Fetal Kidney	kidney
12	chr5:14294600-14308200	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:14295600-14313400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:14297800-14306200	Weak transcription	Brain Angular Gyrus	brain
15	chr5:14297800-14316600	Weak transcription	Brain Substantia Nigra	brain
16	chr5:14298000-14308600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:14298000-14316600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:14298000-14316600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr5:14298200-14306600	Weak transcription	Esophagus	oesophagus
20	chr5:14298200-14307800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:14298200-14308800	Weak transcription	Gastric	stomach
22	chr5:14298400-14309400	Weak transcription	Fetal Brain Male	brain
23	chr5:14299000-14314400	Strong transcription	Adipose Nuclei	Adipose
24	chr5:14299200-14315400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:14299600-14306200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:14299600-14308600	Weak transcription	Colon Smooth Muscle	Colon
27	chr5:14299800-14308400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:14300000-14306600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:14300000-14311600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr5:14300000-14313200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr5:14300000-14316800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:14300400-14310200	Weak transcription	Fetal Thymus	thymus
33	chr5:14301200-14314000	Strong transcription	HepG2	liver
34	chr5:14301600-14306600	Weak transcription	Brain Anterior Caudate	brain
35	chr5:14301600-14307200	Weak transcription	Placenta	Placenta
36	chr5:14301800-14310400	Weak transcription	Spleen	Spleen
37	chr5:14302000-14310400	Weak transcription	Fetal Lung	lung
38	chr5:14302000-14313200	Weak transcription	Psoas Muscle	Psoas
39	chr5:14303000-14307600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:14303000-14311400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:14303200-14308600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr5:14303400-14312200	Strong transcription	Fetal Stomach	stomach
43	chr5:14303600-14306200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:14303600-14306200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:14303600-14306800	Genic enhancers	HSMM	muscle
46	chr5:14303600-14308600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:14303600-14309000	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr5:14303600-14312000	Strong transcription	Fetal Intestine Small	intestine
49	chr5:14303600-14312200	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr5:14303600-14314400	Strong transcription	GM12878-XiMat	blood

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