Variant report

Variant	rs73348059
Chromosome Location	chr14:45488230-45488231
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	chr14:45382331..45385097-chr14:45486659..45488651,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11846891	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11847071	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11850713	0.84[EUR][1000 genomes]
rs45590239	1.00[EUR][1000 genomes]
rs59017481	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59073313	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73334137	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73334178	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73334919	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73340630	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73340634	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73346308	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73346324	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73348082	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73348279	0.84[AFR][1000 genomes]
rs73349815	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73350005	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73353671	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv1042585	chr14:45401506-45497907	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv1038384	chr14:45447187-45521583	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1260	chr14:45457666-45502671	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv933364	chr14:45467086-45705844	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 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	chr14:45437000-45496000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr14:45437000-45507400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:45437000-45514600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr14:45438000-45501800	Weak transcription	Fetal Kidney	kidney
5	chr14:45450000-45501800	Weak transcription	Lung	lung
6	chr14:45458200-45501400	Weak transcription	Colon Smooth Muscle	Colon
7	chr14:45458200-45507400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:45458800-45503400	Weak transcription	HUVEC	blood vessel
9	chr14:45459400-45507600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr14:45460800-45495800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:45461200-45501800	Weak transcription	HSMMtube	muscle
12	chr14:45461800-45501400	Weak transcription	NHEK	skin
13	chr14:45462400-45506200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr14:45463600-45507000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr14:45464400-45507400	Weak transcription	Spleen	Spleen
16	chr14:45464600-45507400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr14:45464600-45507600	Weak transcription	Hela-S3	cervix
18	chr14:45465600-45507800	Weak transcription	Fetal Heart	heart
19	chr14:45465800-45490200	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr14:45465800-45524000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr14:45465800-45552600	Weak transcription	HMEC	breast
22	chr14:45466200-45508600	Weak transcription	HepG2	liver
23	chr14:45466400-45503000	Weak transcription	Esophagus	oesophagus
24	chr14:45466400-45508000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr14:45466600-45496000	Weak transcription	Pancreas	Pancrea
26	chr14:45466600-45501000	Weak transcription	Aorta	Aorta
27	chr14:45467600-45495800	Weak transcription	Brain Substantia Nigra	brain
28	chr14:45468400-45492000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr14:45468600-45507400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:45469400-45506200	Weak transcription	Psoas Muscle	Psoas
31	chr14:45470400-45493000	Weak transcription	Fetal Thymus	thymus
32	chr14:45470400-45507400	Weak transcription	Right Ventricle	heart
33	chr14:45470600-45492200	Weak transcription	Ovary	ovary
34	chr14:45470600-45501400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr14:45470600-45507600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr14:45471000-45492600	Weak transcription	Fetal Brain Female	brain
37	chr14:45476400-45507600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr14:45476600-45498200	Weak transcription	NH-A	brain
39	chr14:45477400-45502600	Weak transcription	A549	lung
40	chr14:45477800-45498600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr14:45479000-45506000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr14:45480400-45507600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr14:45480800-45489000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr14:45480800-45501800	Weak transcription	Colonic Mucosa	Colon
45	chr14:45481200-45489200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:45481800-45489400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr14:45482200-45492800	Strong transcription	Fetal Muscle Leg	muscle
48	chr14:45482600-45489200	Weak transcription	Primary T cells from cord blood	blood
49	chr14:45482800-45545400	Weak transcription	NHDF-Ad	bronchial
50	chr14:45483000-45501400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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