Variant report

Variant	rs183949
Chromosome Location	chr13:51088052-51088053
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:51085819..51089100-chr13:51090794..51093089,4	K562	blood:
2	chr13:51087212..51089990-chr13:51483181..51484978,2	K562	blood:
3	chr13:50569721..50571547-chr13:51085881..51088680,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136104	Chromatin interaction
ENSG00000204977	Chromatin interaction
ENSG00000264864	Chromatin interaction
ENSG00000233672	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12584983	0.81[CHB][hapmap]
rs1262772	0.90[ASN][1000 genomes]
rs1262774	0.90[ASN][1000 genomes]
rs1262775	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs1262778	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs157164	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs157168	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs157175	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1630605	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs1638703	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs1753633	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs183950	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs190704	0.91[ASN][1000 genomes]
rs192492	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs495838	0.90[CHB][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	nsv1045237	chr13:50976560-51102386	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1040	chr13:51041591-51090903	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1835159	chr13:51061044-51091390	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1815534	chr13:51061044-51092946	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv1816672	chr13:51061044-51092946	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv1830736	chr13:51061044-51092946	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv1834352	chr13:51061044-51092946	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv1841390	chr13:51061044-51092946	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv1843375	chr13:51061044-51092946	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51084200-51093200	Weak transcription	Spleen	Spleen
2	chr13:51084400-51093000	Weak transcription	Lung	lung
3	chr13:51085600-51089200	Enhancers	Fetal Intestine Small	intestine
4	chr13:51086000-51088200	Enhancers	Fetal Stomach	stomach
5	chr13:51086200-51093000	Weak transcription	Placenta	Placenta
6	chr13:51086400-51092400	Weak transcription	Pancreas	Pancrea
7	chr13:51086800-51089200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr13:51086800-51089200	Enhancers	Fetal Intestine Large	intestine
9	chr13:51087000-51088200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr13:51087000-51088200	Enhancers	HSMMtube	muscle
11	chr13:51087000-51088800	Weak transcription	Aorta	Aorta
12	chr13:51087000-51089200	Enhancers	Primary hematopoietic stem cells	blood
13	chr13:51087000-51089200	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr13:51087000-51089400	Enhancers	Fetal Thymus	thymus
15	chr13:51087200-51088200	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr13:51087200-51088400	Enhancers	Primary B cells from peripheral blood	blood
17	chr13:51087200-51088600	Enhancers	Colon Smooth Muscle	Colon
18	chr13:51087200-51088600	Enhancers	Fetal Muscle Leg	muscle
19	chr13:51087200-51088600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr13:51087200-51089200	Enhancers	Fetal Lung	lung
21	chr13:51087200-51089400	Enhancers	Thymus	Thymus
22	chr13:51087200-51092200	Weak transcription	Brain Angular Gyrus	brain
23	chr13:51087200-51095400	Weak transcription	Right Ventricle	heart
24	chr13:51087400-51088200	Enhancers	Primary B cells from cord blood	blood
25	chr13:51087400-51088200	Enhancers	Primary T cells from cord blood	blood
26	chr13:51087400-51088200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr13:51087400-51088200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr13:51087400-51088200	Enhancers	Brain Cingulate Gyrus	brain
29	chr13:51087400-51088200	Enhancers	Duodenum Mucosa	Duodenum
30	chr13:51087400-51088200	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr13:51087400-51088400	Enhancers	Brain Anterior Caudate	brain
32	chr13:51087400-51088400	Enhancers	Brain Substantia Nigra	brain
33	chr13:51087400-51089000	Enhancers	Fetal Heart	heart
34	chr13:51087400-51089200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr13:51087600-51088200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr13:51087600-51088200	Enhancers	Brain Hippocampus Middle	brain
37	chr13:51087600-51088200	Enhancers	Rectal Smooth Muscle	rectum
38	chr13:51087600-51088600	Enhancers	HepG2	liver
39	chr13:51087600-51089400	Enhancers	Dnd41	blood
40	chr13:51087600-51092200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr13:51087600-51092400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr13:51087600-51092400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr13:51087600-51093000	Weak transcription	Psoas Muscle	Psoas
44	chr13:51087600-51094800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr13:51087600-51095200	Weak transcription	Small Intestine	intestine
46	chr13:51087600-51095600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr13:51087800-51088400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr13:51087800-51088400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr13:51087800-51089000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr13:51087800-51089200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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