Variant report

Variant	rs17124220
Chromosome Location	chr12:50369305-50369306
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50368103..50369610-chr12:50371234..50372946,2	K562	blood:
2	chr12:50367636..50371210-chr12:50373031..50375237,3	K562	blood:
3	chr12:50015023..50017139-chr12:50367561..50369518,2	K562	blood:
4	chr12:50361097..50363136-chr12:50368065..50369960,2	MCF-7	breast:
5	chr12:50258974..50260618-chr12:50366779..50369622,2	MCF-7	breast:
6	chr12:50368076..50369916-chr12:50370500..50372771,2	MCF-7	breast:
7	chr12:50367709..50369586-chr12:50462445..50464458,2	MCF-7	breast:
8	chr12:50367042..50370413-chr12:50441830..50446012,4	K562	blood:

No data

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12306363	1.00[EUR][1000 genomes]
rs17124205	0.90[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17124219	1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3741560	0.84[ASW][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59481807	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv832407	chr12:50243268-50412236	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv558835	chr12:50275137-50433234	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv899072	chr12:50326176-50379667	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	esv1827130	chr12:50349765-50379667	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv469374	chr12:50349765-50467769	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv469375	chr12:50349765-50467769	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv558837	chr12:50349765-50467769	Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50361400-50372800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:50362000-50371200	Weak transcription	Fetal Brain Female	brain
3	chr12:50362600-50385800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:50364200-50371000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:50366200-50369800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr12:50366400-50374600	Weak transcription	Fetal Kidney	kidney
7	chr12:50366600-50377400	Weak transcription	NHEK	skin
8	chr12:50367000-50369600	Enhancers	Fetal Intestine Large	intestine
9	chr12:50367000-50369800	Enhancers	Fetal Intestine Small	intestine
10	chr12:50367000-50378000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:50367400-50401200	Weak transcription	Gastric	stomach
12	chr12:50367600-50374800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:50367800-50370000	Enhancers	Fetal Heart	heart
14	chr12:50367800-50370800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr12:50368000-50369400	Enhancers	Fetal Muscle Leg	muscle
16	chr12:50368000-50369400	Enhancers	Placenta	Placenta
17	chr12:50368000-50369600	Enhancers	Ovary	ovary
18	chr12:50368000-50372000	Enhancers	Brain Germinal Matrix	brain
19	chr12:50368200-50369400	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr12:50368200-50369600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr12:50368200-50369800	Enhancers	Fetal Brain Male	brain
22	chr12:50368200-50370000	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr12:50368200-50370000	Enhancers	Fetal Stomach	stomach
24	chr12:50368400-50369600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:50368400-50374600	Weak transcription	Pancreas	Pancrea
26	chr12:50368400-50376000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:50368600-50369400	Enhancers	Brain Angular Gyrus	brain
28	chr12:50368600-50369400	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr12:50368600-50369600	Enhancers	Brain Hippocampus Middle	brain
30	chr12:50368600-50369600	Enhancers	Colonic Mucosa	Colon
31	chr12:50368600-50369800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr12:50368600-50369800	Enhancers	Brain Cingulate Gyrus	brain
33	chr12:50368600-50370000	Enhancers	Colon Smooth Muscle	Colon
34	chr12:50368600-50372800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:50368800-50369400	Weak transcription	Lung	lung
36	chr12:50368800-50369600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:50368800-50369800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:50368800-50369800	Enhancers	Brain Anterior Caudate	brain
39	chr12:50368800-50370000	Enhancers	Brain Substantia Nigra	brain
40	chr12:50368800-50373600	Weak transcription	GM12878-XiMat	blood
41	chr12:50369000-50369400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr12:50369000-50369400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:50369000-50369600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr12:50369000-50369600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:50369000-50369600	Flanking Active TSS	HepG2	liver
46	chr12:50369000-50369600	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr12:50369000-50370600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:50369000-50372400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr12:50369200-50369400	Enhancers	Fetal Thymus	thymus
50	chr12:50369200-50369400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion

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