Variant report

Variant	rs13345497
Chromosome Location	chr19:40910846-40910847
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40909995..40911526-chr19:41108177..41110853,2	K562	blood:
2	chr19:40908782..40911420-chr19:40938326..40940378,2	K562	blood:
3	chr19:40904937..40906540-chr19:40908365..40910929,3	K562	blood:
4	chr19:40900949..40906608-chr19:40907759..40912304,10	K562	blood:
5	chr19:40908161..40911637-chr19:40970374..40973536,7	K562	blood:
6	chr19:40908613..40911116-chr19:40938326..40941382,3	K562	blood:
7	chr19:40907373..40910987-chr19:40948839..40951846,4	K562	blood:
8	chr19:40908387..40911091-chr19:40944867..40946978,2	MCF-7	breast:
9	chr19:40902943..40904707-chr19:40908617..40910993,2	MCF-7	breast:
10	chr19:40789702..40793254-chr19:40909786..40911752,3	K562	blood:
11	chr19:40908162..40912725-chr19:40970116..40973536,6	K562	blood:
12	chr19:40909509..40911149-chr19:40940124..40941735,2	MCF-7	breast:
13	chr19:40909481..40912395-chr19:40929611..40933133,4	MCF-7	breast:
14	chr19:40907450..40910987-chr19:40927474..40932273,7	K562	blood:
15	chr19:40909454..40911607-chr19:40919634..40923164,3	K562	blood:
16	chr19:40906949..40911838-chr19:40925099..40928868,7	MCF-7	breast:
17	chr19:40907794..40914181-chr19:40946949..40951155,9	K562	blood:
18	chr19:40901324..40904216-chr19:40909488..40911186,3	K562	blood:
19	chr19:40852895..40856586-chr19:40907979..40911025,3	MCF-7	breast:
20	chr19:40908742..40911097-chr19:40920892..40923647,2	MCF-7	breast:
21	chr19:40908895..40911827-chr19:40929658..40933266,7	MCF-7	breast:
22	chr19:40909288..40910944-chr19:40971424..40972987,2	MCF-7	breast:
23	chr19:40908687..40911192-chr19:40912571..40916737,4	K562	blood:
24	chr19:40898268..40902759-chr19:40908036..40910900,5	MCF-7	breast:
25	chr19:40909493..40911572-chr19:40948194..40951173,2	MCF-7	breast:
26	chr19:40884158..40887666-chr19:40907881..40910948,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160460	Chromatin interaction
ENSG00000197019	Chromatin interaction
ENSG00000105227	Chromatin interaction
ENSG00000268366	Chromatin interaction
ENSG00000167565	Chromatin interaction
ENSG00000090013	Chromatin interaction
ENSG00000105223	Chromatin interaction
ENSG00000160392	Chromatin interaction
ENSG00000105221	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10408405	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10412156	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10422945	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10424704	1.00[EUR][1000 genomes]
rs11879375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11881681	0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13346024	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs268659	1.00[EUR][1000 genomes]
rs28407044	1.00[EUR][1000 genomes]
rs28529139	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs28679850	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28728269	1.00[EUR][1000 genomes]
rs3730257	1.00[EUR][1000 genomes]
rs4150984	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4150995	1.00[TSI][hapmap]
rs55646097	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55860305	1.00[EUR][1000 genomes]
rs55954198	1.00[EUR][1000 genomes]
rs59129285	1.00[EUR][1000 genomes]
rs60115762	1.00[EUR][1000 genomes]
rs61018633	1.00[EUR][1000 genomes]
rs73559625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73559626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73559635	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73933256	1.00[EUR][1000 genomes]
rs73933258	1.00[EUR][1000 genomes]
rs73933265	1.00[EUR][1000 genomes]
rs73933270	1.00[EUR][1000 genomes]
rs73933276	1.00[EUR][1000 genomes]
rs9676315	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv911706	chr19:40842529-40969203	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv911707	chr19:40855255-40948202	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv911708	chr19:40855255-40982375	Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
7	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40909400-40914000	Weak transcription	Stomach Mucosa	stomach
2	chr19:40910200-40911000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:40910200-40911000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:40910200-40911000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr19:40910200-40911200	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr19:40910200-40911200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr19:40910200-40911200	Enhancers	Placenta	Placenta
8	chr19:40910200-40911400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr19:40910200-40911400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr19:40910200-40911400	Enhancers	Adipose Nuclei	Adipose
11	chr19:40910200-40911400	Enhancers	Fetal Stomach	stomach
12	chr19:40910200-40911400	Enhancers	Stomach Smooth Muscle	stomach
13	chr19:40910200-40911400	Enhancers	GM12878-XiMat	blood
14	chr19:40910200-40911400	Enhancers	NHDF-Ad	bronchial
15	chr19:40910200-40913600	Weak transcription	Primary B cells from cord blood	blood
16	chr19:40910200-40913600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr19:40910200-40913600	Weak transcription	Lung	lung
18	chr19:40910200-40913600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr19:40910200-40913800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr19:40910200-40913800	Weak transcription	Colonic Mucosa	Colon
21	chr19:40910200-40913800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr19:40910200-40913800	Weak transcription	Spleen	Spleen
23	chr19:40910200-40914000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr19:40910200-40916800	Weak transcription	Right Atrium	heart
25	chr19:40910200-40917000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr19:40910200-40917000	Weak transcription	Esophagus	oesophagus
27	chr19:40910200-40917000	Weak transcription	Psoas Muscle	Psoas
28	chr19:40910200-40919000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr19:40910200-40926800	Weak transcription	Gastric	stomach
30	chr19:40910400-40911000	Enhancers	H9 Cell Line	embryonic stem cell
31	chr19:40910400-40911000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr19:40910400-40911200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr19:40910400-40911200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr19:40910400-40911400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr19:40910400-40911400	Enhancers	Fetal Muscle Trunk	muscle
36	chr19:40910400-40911400	Enhancers	A549	lung
37	chr19:40910400-40913800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr19:40910400-40913800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr19:40910400-40913800	Weak transcription	Left Ventricle	heart
40	chr19:40910600-40911000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr19:40910600-40911000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr19:40910600-40911200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:40910600-40911200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr19:40910600-40911200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr19:40910600-40911200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr19:40910600-40911400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr19:40910600-40911400	Enhancers	Hela-S3	cervix
48	chr19:40910600-40911400	Enhancers	K562	blood
49	chr19:40910600-40913400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr19:40910600-40913600	Weak transcription	Primary monocytes fromperipheralblood	blood

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