Variant report

Variant	rs56290996
Chromosome Location	chr13:98015239-98015240
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs56380302	0.90[AFR][1000 genomes]
rs56880548	0.90[AFR][1000 genomes]
rs57599496	0.81[AFR][1000 genomes]
rs58108137	0.90[AFR][1000 genomes]
rs58380779	0.90[AFR][1000 genomes]
rs59754396	0.90[AFR][1000 genomes]
rs60023497	0.90[AFR][1000 genomes]
rs60109203	0.90[AFR][1000 genomes]
rs61153632	0.90[AFR][1000 genomes]
rs74105070	0.90[AFR][1000 genomes]
rs74105074	0.90[AFR][1000 genomes]
rs74105075	0.90[AFR][1000 genomes]
rs74105078	0.90[AFR][1000 genomes]
rs74105079	0.90[AFR][1000 genomes]
rs74105081	0.90[AFR][1000 genomes]
rs74105084	0.90[AFR][1000 genomes]
rs74105085	0.90[AFR][1000 genomes]
rs74105086	0.90[AFR][1000 genomes]
rs74105087	0.90[AFR][1000 genomes]
rs74105123	1.00[AFR][1000 genomes]
rs74105126	1.00[AFR][1000 genomes]
rs74105128	1.00[AFR][1000 genomes]
rs74105131	0.90[AFR][1000 genomes]
rs74105172	0.90[AFR][1000 genomes]
rs74105175	0.90[AFR][1000 genomes]
rs74105178	0.90[AFR][1000 genomes]
rs74105179	0.90[AFR][1000 genomes]
rs74105182	0.90[AFR][1000 genomes]
rs74105469	0.90[AFR][1000 genomes]
rs74105470	0.90[AFR][1000 genomes]
rs74105471	0.90[AFR][1000 genomes]
rs74105472	0.90[AFR][1000 genomes]
rs74105478	0.90[AFR][1000 genomes]
rs74105488	0.90[AFR][1000 genomes]
rs74105491	0.90[AFR][1000 genomes]
rs74105492	0.90[AFR][1000 genomes]
rs74105495	0.90[AFR][1000 genomes]
rs74106249	0.90[AFR][1000 genomes]
rs74106936	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832694	chr13:97930561-98137882	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1038798	chr13:98008467-98068130	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:97982600-98020800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr13:97991600-98020800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr13:97992800-98020800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr13:97994200-98016200	Weak transcription	NHDF-Ad	bronchial
5	chr13:97995400-98050200	Weak transcription	Small Intestine	intestine
6	chr13:97996200-98019400	Weak transcription	GM12878-XiMat	blood
7	chr13:97997400-98019000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr13:97998400-98015800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr13:97999600-98019200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr13:98002400-98027200	Weak transcription	Lung	lung
11	chr13:98002400-98039600	Weak transcription	Spleen	Spleen
12	chr13:98002600-98021600	Weak transcription	Colonic Mucosa	Colon
13	chr13:98003200-98021200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr13:98003800-98018000	Weak transcription	Fetal Brain Male	brain
15	chr13:98003800-98019000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr13:98004000-98018600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr13:98004000-98019200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr13:98004000-98021000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr13:98004400-98019400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr13:98005400-98021600	Weak transcription	Thymus	Thymus
21	chr13:98006600-98020600	Strong transcription	HUVEC	blood vessel
22	chr13:98006800-98018600	Weak transcription	HSMMtube	muscle
23	chr13:98009200-98019200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:98009600-98019000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr13:98010000-98027400	Weak transcription	Esophagus	oesophagus
26	chr13:98010800-98027400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr13:98011000-98015800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:98011600-98017400	Strong transcription	Primary hematopoietic stem cells	blood
29	chr13:98011800-98019200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr13:98011800-98020800	Weak transcription	Stomach Mucosa	stomach
31	chr13:98012000-98019400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr13:98012200-98020400	Strong transcription	Fetal Lung	lung
33	chr13:98012400-98019000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr13:98012600-98015400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr13:98012600-98017200	Strong transcription	Fetal Muscle Trunk	muscle
36	chr13:98012600-98017400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr13:98012600-98017400	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr13:98012800-98015600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr13:98012800-98016200	Strong transcription	Fetal Stomach	stomach
40	chr13:98012800-98016400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr13:98012800-98017400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr13:98012800-98018600	Strong transcription	Primary B cells from cord blood	blood
43	chr13:98012800-98019200	Strong transcription	Placenta	Placenta
44	chr13:98012800-98019200	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr13:98012800-98019400	Strong transcription	Duodenum Mucosa	Duodenum
46	chr13:98012800-98020200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr13:98013000-98017400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr13:98013000-98017600	Strong transcription	Stomach Smooth Muscle	stomach
49	chr13:98013000-98018600	Strong transcription	Fetal Muscle Leg	muscle
50	chr13:98013000-98020200	Strong transcription	Primary T cells from cord blood	blood

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