Variant report

Variant	rs661049
Chromosome Location	chr13:30696259-30696260
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs499135	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs527603	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs533910	0.80[AFR][1000 genomes]
rs533937	0.80[AFR][1000 genomes]
rs548982	1.00[MEX][hapmap]
rs550775	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs550786	1.00[GIH][hapmap];0.91[YRI][hapmap];1.00[EUR][1000 genomes]
rs584999	0.80[AFR][1000 genomes]
rs585049	0.83[AFR][1000 genomes]
rs587669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs603466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7321451	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74043025	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040215	chr13:30621351-30741022	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv541745	chr13:30621351-30741022	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv832572	chr13:30650005-30835256	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30689600-30697400	Weak transcription	Aorta	Aorta
2	chr13:30689600-30697800	Weak transcription	Spleen	Spleen
3	chr13:30690200-30699800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:30691200-30699400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr13:30692400-30696400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:30692400-30696600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr13:30692600-30696400	Enhancers	Thymus	Thymus
8	chr13:30692800-30696600	Enhancers	Fetal Thymus	thymus
9	chr13:30692800-30697000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr13:30693000-30696400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr13:30693200-30696600	Enhancers	Primary hematopoietic stem cells	blood
12	chr13:30693200-30697200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr13:30693400-30696600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr13:30693400-30696600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr13:30693800-30696800	Enhancers	Primary B cells from cord blood	blood
16	chr13:30694000-30696400	Enhancers	Primary T cells from cord blood	blood
17	chr13:30694000-30696400	Enhancers	NHEK	skin
18	chr13:30694000-30696800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr13:30694200-30696400	Enhancers	HMEC	breast
20	chr13:30694400-30698200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr13:30694400-30699600	Weak transcription	NH-A	brain
22	chr13:30694400-30699800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr13:30694400-30707000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr13:30694600-30696600	Enhancers	Dnd41	blood
25	chr13:30694600-30699400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr13:30694600-30699400	Weak transcription	Osteobl	bone
27	chr13:30694600-30699600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr13:30694600-30699600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr13:30694600-30699600	Weak transcription	HSMM	muscle
30	chr13:30694600-30699600	Weak transcription	NHDF-Ad	bronchial
31	chr13:30694800-30698400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr13:30694800-30699800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr13:30695000-30698400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr13:30695000-30699400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr13:30695000-30701000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr13:30695400-30696400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr13:30695600-30696600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr13:30695600-30696600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr13:30695600-30697800	Weak transcription	Colon Smooth Muscle	Colon
40	chr13:30695800-30696400	Enhancers	Primary T cells fromperipheralblood	blood
41	chr13:30695800-30696600	Enhancers	Primary B cells from peripheral blood	blood
42	chr13:30695800-30696600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr13:30696000-30696400	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr13:30696000-30697000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr13:30696000-30699600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr13:30696200-30699400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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