Variant report

Variant	rs7716460
Chromosome Location	chr5:14301837-14301838
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14035194..14037958-chr5:14300932..14303719,2	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10062034	1.00[AMR][1000 genomes]
rs10076925	1.00[AMR][1000 genomes]
rs16903269	0.84[YRI][hapmap]
rs16903322	0.86[YRI][hapmap]
rs16903350	0.86[YRI][hapmap];0.83[AMR][1000 genomes]
rs16903376	0.83[AFR][1000 genomes]
rs16903399	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs16903467	1.00[AMR][1000 genomes]
rs55750919	1.00[AMR][1000 genomes]
rs55754427	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55773296	1.00[AMR][1000 genomes]
rs56114434	1.00[AMR][1000 genomes]
rs56141029	1.00[AMR][1000 genomes]
rs56227025	1.00[AMR][1000 genomes]
rs56664186	1.00[AMR][1000 genomes]
rs56712870	1.00[AMR][1000 genomes]
rs57560019	1.00[AMR][1000 genomes]
rs57764801	0.81[AFR][1000 genomes]
rs57974400	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58324829	1.00[AMR][1000 genomes]
rs58443103	1.00[AMR][1000 genomes]
rs58716074	0.83[AMR][1000 genomes]
rs58897996	1.00[AMR][1000 genomes]
rs59499572	0.83[AMR][1000 genomes]
rs59853866	1.00[AMR][1000 genomes]
rs60077210	1.00[AMR][1000 genomes]
rs60568524	0.83[AMR][1000 genomes]
rs61180647	0.83[AMR][1000 genomes]
rs61396062	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61509800	0.83[AMR][1000 genomes]
rs6868596	0.83[AMR][1000 genomes]
rs73748806	1.00[AMR][1000 genomes]
rs73748810	0.83[AMR][1000 genomes]
rs73748811	1.00[AMR][1000 genomes]
rs73749082	1.00[AMR][1000 genomes]
rs73749083	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749085	1.00[AMR][1000 genomes]
rs73749234	1.00[AMR][1000 genomes]
rs73749235	1.00[AMR][1000 genomes]
rs73751307	0.83[AMR][1000 genomes]
rs73751311	0.83[AMR][1000 genomes]
rs73751318	0.83[AMR][1000 genomes]
rs73751322	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751323	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751327	0.83[AMR][1000 genomes]
rs73751329	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751335	0.83[AMR][1000 genomes]
rs73751336	0.83[AMR][1000 genomes]
rs73751337	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751338	0.83[AMR][1000 genomes]
rs73751339	0.83[AMR][1000 genomes]
rs73751340	0.83[AMR][1000 genomes]
rs7703674	0.83[AMR][1000 genomes]
rs7705426	0.83[AMR][1000 genomes]
rs7713114	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7723309	1.00[AMR][1000 genomes]
rs7724084	1.00[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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14270400-14305200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:14270400-14313600	Weak transcription	Small Intestine	intestine
3	chr5:14278000-14341200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:14283000-14319400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:14285800-14304200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:14286200-14302200	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr5:14286200-14320400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:14286400-14302000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:14286400-14321000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr5:14286600-14302200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:14286600-14314400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:14287000-14302000	Strong transcription	Fetal Stomach	stomach
13	chr5:14287000-14315000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr5:14288000-14324000	Strong transcription	Primary B cells from peripheral blood	blood
15	chr5:14289400-14302800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:14290000-14302800	Strong transcription	Fetal Intestine Large	intestine
17	chr5:14290800-14321200	Strong transcription	Primary B cells from cord blood	blood
18	chr5:14291400-14316600	Weak transcription	Thymus	Thymus
19	chr5:14291600-14308400	Weak transcription	Fetal Kidney	kidney
20	chr5:14292400-14302000	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr5:14293600-14303600	Strong transcription	HSMM	muscle
22	chr5:14293800-14303000	Strong transcription	HSMMtube	muscle
23	chr5:14293800-14304600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr5:14294600-14308200	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr5:14295200-14302000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:14295600-14313400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:14296400-14302200	Strong transcription	Fetal Muscle Leg	muscle
28	chr5:14296800-14303000	Strong transcription	Duodenum Mucosa	Duodenum
29	chr5:14297400-14304600	Weak transcription	Fetal Heart	heart
30	chr5:14297800-14306200	Weak transcription	Brain Angular Gyrus	brain
31	chr5:14297800-14316600	Weak transcription	Brain Substantia Nigra	brain
32	chr5:14298000-14304400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr5:14298000-14308600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr5:14298000-14316600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:14298000-14316600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr5:14298200-14302000	Strong transcription	Fetal Muscle Trunk	muscle
37	chr5:14298200-14302000	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr5:14298200-14305200	Weak transcription	Colonic Mucosa	Colon
39	chr5:14298200-14306600	Weak transcription	Esophagus	oesophagus
40	chr5:14298200-14307800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr5:14298200-14308800	Weak transcription	Gastric	stomach
42	chr5:14298400-14302600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:14298400-14303800	Weak transcription	Fetal Brain Female	brain
44	chr5:14298400-14309400	Weak transcription	Fetal Brain Male	brain
45	chr5:14298800-14304000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:14299000-14304000	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr5:14299000-14305000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:14299000-14314400	Strong transcription	Adipose Nuclei	Adipose
49	chr5:14299200-14302000	Strong transcription	Fetal Intestine Small	intestine
50	chr5:14299200-14302600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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