Variant report

Variant	rs73491278
Chromosome Location	chr13:50056903-50056904
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs57884356	1.00[AMR][1000 genomes]
rs58258059	1.00[AMR][1000 genomes]
rs58284306	1.00[AMR][1000 genomes]
rs61061574	1.00[AMR][1000 genomes]
rs67714799	0.85[AFR][1000 genomes]
rs7317736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7323574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491209	1.00[AMR][1000 genomes]
rs73491212	1.00[AMR][1000 genomes]
rs73491222	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491238	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491240	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491263	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493208	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493213	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493222	1.00[AMR][1000 genomes]
rs73493244	1.00[AMR][1000 genomes]
rs73493248	1.00[AMR][1000 genomes]
rs73493257	1.00[AMR][1000 genomes]
rs73493259	1.00[AMR][1000 genomes]
rs73493264	1.00[AMR][1000 genomes]
rs73493297	1.00[AMR][1000 genomes]
rs73495301	1.00[AMR][1000 genomes]
rs9568214	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv430558	chr13:49914393-50059354	Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv430559	chr13:49930369-50059354	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv430560	chr13:49930643-50059354	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv430562	chr13:49930643-50067246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv430561	chr13:49930643-50089844	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv430564	chr13:49945247-50059354	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv430566	chr13:49945247-50089844	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv430571	chr13:49961137-50059354	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv430570	chr13:49961137-50089844	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv523648	chr13:50005444-50086266	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv561613	chr13:50013622-50086266	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv900070	chr13:50013622-50087142	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv561614	chr13:50042983-50086253	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv561615	chr13:50042983-50086266	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50020200-50068400	Weak transcription	HMEC	breast
2	chr13:50022000-50069000	Weak transcription	Fetal Brain Male	brain
3	chr13:50023000-50068000	Weak transcription	Hela-S3	cervix
4	chr13:50031800-50068800	Weak transcription	Psoas Muscle	Psoas
5	chr13:50034400-50068800	Weak transcription	NH-A	brain
6	chr13:50036400-50068600	Weak transcription	Stomach Mucosa	stomach
7	chr13:50036600-50068000	Weak transcription	K562	blood
8	chr13:50037800-50064000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr13:50037800-50068400	Weak transcription	HUVEC	blood vessel
10	chr13:50037800-50069000	Weak transcription	Colonic Mucosa	Colon
11	chr13:50038000-50062800	Strong transcription	Primary B cells from peripheral blood	blood
12	chr13:50038000-50063400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr13:50038000-50063600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr13:50038000-50063800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr13:50038000-50068800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr13:50038200-50062400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr13:50038200-50063400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr13:50038400-50062200	Strong transcription	Primary T cells from cord blood	blood
19	chr13:50038400-50066800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr13:50038400-50066800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr13:50038400-50069000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr13:50038400-50069400	Weak transcription	Small Intestine	intestine
23	chr13:50038600-50068800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr13:50038800-50069000	Weak transcription	HSMM	muscle
25	chr13:50039000-50068200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr13:50039200-50068800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr13:50039400-50069200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr13:50040600-50064800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr13:50041000-50068800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr13:50041400-50069400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr13:50041600-50063800	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr13:50042000-50063400	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr13:50042200-50067000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr13:50047400-50063400	Strong transcription	Liver	Liver
35	chr13:50047600-50063600	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr13:50048600-50057200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr13:50048800-50063600	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr13:50049400-50069000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr13:50051200-50060600	Weak transcription	Osteobl	bone
40	chr13:50051200-50068400	Weak transcription	NHLF	lung
41	chr13:50051400-50058000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr13:50051400-50060200	Weak transcription	Aorta	Aorta
43	chr13:50051400-50069000	Weak transcription	Fetal Brain Female	brain
44	chr13:50051400-50069400	Weak transcription	Gastric	stomach
45	chr13:50051600-50057800	Weak transcription	Fetal Intestine Small	intestine
46	chr13:50051600-50058000	Weak transcription	Right Ventricle	heart
47	chr13:50051600-50068400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr13:50051800-50068800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr13:50052000-50068800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr13:50052200-50069200	Weak transcription	Brain Germinal Matrix	brain

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