Variant report

Variant	rs12429615
Chromosome Location	chr13:39583127-39583128
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:39581808..39584670-chr13:39588176..39590668,3	K562	blood:
2	chr13:39582312..39584090-chr13:39587893..39590374,2	MCF-7	breast:
3	chr13:39581567..39584670-chr13:39588176..39591409,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12428338	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12428487	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12430798	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12431010	0.90[EUR][1000 genomes]
rs12431327	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17226184	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17226219	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17226809	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17826253	0.90[EUR][1000 genomes]
rs41286945	0.93[AMR][1000 genomes];0.90[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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2753642	chr13:39522300-39649000	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2753553	chr13:39526600-39649000	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39571600-39583800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:39572200-39584600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr13:39573400-39584800	Weak transcription	K562	blood
4	chr13:39574600-39585000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:39577000-39584600	Weak transcription	Left Ventricle	heart
6	chr13:39579000-39585000	Weak transcription	Gastric	stomach
7	chr13:39580000-39584400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr13:39580000-39584400	Weak transcription	Dnd41	blood
9	chr13:39580200-39584400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr13:39580200-39584400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr13:39580200-39584600	Weak transcription	Fetal Muscle Leg	muscle
12	chr13:39580200-39584800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:39580200-39585000	Weak transcription	Fetal Stomach	stomach
14	chr13:39580200-39585000	Weak transcription	NH-A	brain
15	chr13:39580400-39584600	Weak transcription	Fetal Brain Female	brain
16	chr13:39580400-39585000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr13:39580400-39585000	Weak transcription	Lung	lung
18	chr13:39580600-39583200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr13:39580600-39584400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr13:39580800-39583200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:39580800-39584400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr13:39580800-39584400	Weak transcription	Fetal Lung	lung
23	chr13:39580800-39584800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr13:39580800-39584800	Weak transcription	Colon Smooth Muscle	Colon
25	chr13:39580800-39586200	Weak transcription	Colonic Mucosa	Colon
26	chr13:39581000-39583200	Weak transcription	Adipose Nuclei	Adipose
27	chr13:39581000-39584200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr13:39581000-39584400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr13:39581000-39584600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr13:39581000-39584600	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr13:39581200-39583400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr13:39581200-39583800	Weak transcription	Liver	Liver
33	chr13:39581200-39584400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr13:39581200-39584400	Weak transcription	Fetal Kidney	kidney
35	chr13:39581200-39584600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr13:39581200-39585000	Weak transcription	Aorta	Aorta
37	chr13:39581200-39585000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr13:39581200-39585000	Weak transcription	Thymus	Thymus
39	chr13:39581400-39583400	Strong transcription	Primary B cells from cord blood	blood
40	chr13:39581400-39584200	Weak transcription	Osteobl	bone
41	chr13:39581400-39584600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr13:39581400-39584600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr13:39581400-39584600	Weak transcription	A549	lung
44	chr13:39581400-39584600	Weak transcription	HMEC	breast
45	chr13:39581400-39584600	Weak transcription	NHEK	skin
46	chr13:39581400-39585400	Weak transcription	Fetal Intestine Small	intestine
47	chr13:39581600-39583200	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr13:39581600-39583200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr13:39581600-39583200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr13:39581600-39584600	Weak transcription	HepG2	liver

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