Variant report

Variant	rs12594536
Chromosome Location	chr15:41210620-41210621
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:41208534..41211234-chr15:41247874..41250474,2	K562	blood:
2	chr15:41206507..41209083-chr15:41209333..41212226,2	K562	blood:
3	chr15:41210020..41211868-chr15:41220331..41223014,2	MCF-7	breast:
4	chr15:41203448..41205626-chr15:41209190..41211696,4	MCF-7	breast:
5	chr15:41209031..41211718-chr15:41213584..41216163,3	MCF-7	breast:
6	chr15:41198006..41200154-chr15:41209910..41212635,2	K562	blood:

Variant related genes	Relation type
ENSG00000251161	Chromatin interaction
ENSG00000128917	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11070309	0.85[AMR][1000 genomes]
rs2412575	0.85[AMR][1000 genomes]
rs2899003	0.85[AMR][1000 genomes]
rs58368241	0.85[AMR][1000 genomes]
rs7162246	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7174607	0.85[AMR][1000 genomes]
rs8024791	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv904103	chr15:41123172-41275014	Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv904104	chr15:41149824-41234932	Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv904105	chr15:41149824-41275014	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
6	esv1819792	chr15:41184722-41234825	Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41203600-41214400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr15:41206200-41212200	Enhancers	Spleen	Spleen
3	chr15:41206600-41214400	Weak transcription	Fetal Kidney	kidney
4	chr15:41206800-41211800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr15:41207200-41211000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:41207200-41211000	Weak transcription	Right Atrium	heart
7	chr15:41207200-41211800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr15:41209400-41212000	Enhancers	Fetal Muscle Leg	muscle
9	chr15:41209600-41211600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
10	chr15:41209600-41212000	Enhancers	HUVEC	blood vessel
11	chr15:41209600-41215800	Enhancers	Fetal Intestine Large	intestine
12	chr15:41209800-41210800	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr15:41209800-41211000	Enhancers	Fetal Brain Male	brain
14	chr15:41209800-41211200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:41209800-41211400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr15:41209800-41211600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr15:41209800-41212000	Bivalent Enhancer	Fetal Stomach	stomach
18	chr15:41209800-41216000	Enhancers	Fetal Intestine Small	intestine
19	chr15:41210000-41210800	Active TSS	Left Ventricle	heart
20	chr15:41210000-41210800	Weak transcription	Lung	lung
21	chr15:41210000-41210800	Active TSS	Right Ventricle	heart
22	chr15:41210000-41211400	Enhancers	Fetal Lung	lung
23	chr15:41210000-41211600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr15:41210000-41212000	Enhancers	Placenta	Placenta
25	chr15:41210200-41210800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr15:41210200-41210800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:41210200-41210800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr15:41210200-41211200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr15:41210200-41211200	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr15:41210200-41211600	Enhancers	NH-A	brain
31	chr15:41210200-41211800	Enhancers	Brain Cingulate Gyrus	brain
32	chr15:41210200-41212200	Flanking Bivalent TSS/Enh	HepG2	liver
33	chr15:41210400-41210800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr15:41210400-41211000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr15:41210400-41211200	Enhancers	Brain Hippocampus Middle	brain
36	chr15:41210400-41211400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
37	chr15:41210400-41211400	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr15:41210400-41211600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr15:41210400-41211800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr15:41210600-41210800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
41	chr15:41210600-41211000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr15:41210600-41211000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr15:41210600-41211400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
44	chr15:41210600-41214600	Weak transcription	Colonic Mucosa	Colon

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