Variant report

Variant	rs61396062
Chromosome Location	chr5:14313412-14313413
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14311393..14313647-chr5:14319084..14320830,2	MCF-7	breast:
2	chr5:14309077..14311493-chr5:14313266..14316028,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10062034	1.00[AMR][1000 genomes]
rs10076925	1.00[AMR][1000 genomes]
rs16903350	0.83[AMR][1000 genomes]
rs16903399	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903467	1.00[AMR][1000 genomes]
rs55750919	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55754427	0.91[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]
rs57974400	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58324829	1.00[AMR][1000 genomes]
rs58443103	1.00[AMR][1000 genomes]
rs58716074	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58897996	1.00[AMR][1000 genomes]
rs59499572	0.83[AMR][1000 genomes]
rs59853866	1.00[AMR][1000 genomes]
rs60077210	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60568524	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61180647	0.83[AMR][1000 genomes]
rs61509800	0.83[AMR][1000 genomes]
rs6868596	0.83[AMR][1000 genomes]
rs73748806	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73748810	0.83[AMR][1000 genomes]
rs73748811	1.00[AMR][1000 genomes]
rs73749082	1.00[AMR][1000 genomes]
rs73749083	0.93[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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751323	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751327	0.83[AMR][1000 genomes]
rs73751329	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751335	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751336	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751338	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751339	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751340	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7703674	0.83[AMR][1000 genomes]
rs7705426	0.83[AMR][1000 genomes]
rs7713114	0.83[AMR][1000 genomes]
rs7716460	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7723309	1.00[AMR][1000 genomes]
rs7724084	1.00[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	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

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	chr5:14297800-14316600	Weak transcription	Brain Substantia Nigra	brain
12	chr5:14298000-14316600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:14298000-14316600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr5:14299000-14314400	Strong transcription	Adipose Nuclei	Adipose
15	chr5:14299200-14315400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:14300000-14316800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:14301200-14314000	Strong transcription	HepG2	liver
18	chr5:14303600-14314400	Strong transcription	GM12878-XiMat	blood
19	chr5:14303800-14314400	Strong transcription	Liver	Liver
20	chr5:14303800-14323600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:14304000-14323800	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr5:14304200-14319400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:14304200-14321800	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:14305000-14315000	Strong transcription	HMEC	breast
25	chr5:14305400-14326800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:14305600-14316400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:14305600-14316600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr5:14305600-14316600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr5:14305600-14317600	Strong transcription	HUVEC	blood vessel
30	chr5:14305600-14321200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:14306600-14315200	Strong transcription	A549	lung
32	chr5:14306800-14314200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:14306800-14316400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:14307000-14314200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:14307000-14316400	Weak transcription	Brain Hippocampus Middle	brain
36	chr5:14307200-14313600	Strong transcription	Stomach Smooth Muscle	stomach
37	chr5:14307600-14313800	Weak transcription	Aorta	Aorta
38	chr5:14307600-14316600	Weak transcription	Brain Angular Gyrus	brain
39	chr5:14307600-14316800	Weak transcription	Primary T cells from cord blood	blood
40	chr5:14307600-14321400	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr5:14307600-14321400	Strong transcription	NH-A	brain
42	chr5:14307800-14316400	Weak transcription	Esophagus	oesophagus
43	chr5:14308400-14314400	Strong transcription	NHDF-Ad	bronchial
44	chr5:14308600-14316400	Weak transcription	Ovary	ovary
45	chr5:14309000-14313600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr5:14309000-14314000	Strong transcription	Osteobl	bone
47	chr5:14309000-14314200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:14309000-14315400	Strong transcription	Fetal Intestine Large	intestine
49	chr5:14309000-14316200	Weak transcription	Fetal Kidney	kidney
50	chr5:14309200-14321200	Strong transcription	Primary monocytes fromperipheralblood	blood

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