Variant report

Variant	rs17853062
Chromosome Location	chr12:49724155-49724156
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49659208..49661762-chr12:49723498..49725947,3	K562	blood:
2	chr12:49722840..49725192-chr12:49730603..49732392,2	MCF-7	breast:
3	chr12:49666758..49668347-chr12:49722296..49724734,2	K562	blood:
4	chr12:49721808..49725568-chr12:49752625..49757232,4	MCF-7	breast:
5	chr12:49724052..49726858-chr12:49947435..49949990,2	K562	blood:
6	chr12:49690281..49692402-chr12:49721783..49724364,2	K562	blood:

Variant related genes	Relation type
ENSG00000186897	Chromatin interaction
ENSG00000135519	Chromatin interaction
ENSG00000258232	Chromatin interaction
ENSG00000135406	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11830820	1.00[AMR][1000 genomes]
rs11836976	1.00[AMR][1000 genomes]
rs56005192	1.00[AMR][1000 genomes]
rs56014465	1.00[AMR][1000 genomes]
rs56140046	1.00[AMR][1000 genomes]
rs56330550	1.00[AMR][1000 genomes]
rs57546911	1.00[AMR][1000 genomes]
rs58557116	1.00[AMR][1000 genomes]
rs59493874	1.00[AMR][1000 genomes]
rs60712360	1.00[AMR][1000 genomes]
rs60865902	1.00[AMR][1000 genomes]
rs61110708	1.00[AMR][1000 genomes]
rs7296117	1.00[AMR][1000 genomes]
rs7299056	1.00[AMR][1000 genomes]
rs7309243	1.00[AMR][1000 genomes]
rs74089008	1.00[AMR][1000 genomes]
rs74089010	1.00[AMR][1000 genomes]
rs74089028	1.00[AMR][1000 genomes]
rs74089030	1.00[AMR][1000 genomes]
rs74089031	1.00[AMR][1000 genomes]
rs74089060	1.00[AMR][1000 genomes]
rs74089561	1.00[AMR][1000 genomes]
rs74089565	1.00[AMR][1000 genomes]
rs74091029	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
5	nsv1042122	chr12:49678529-49823168	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
6	nsv1039176	chr12:49678529-49832618	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv899068	chr12:49714103-49924637	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv832405	chr12:49720279-49910862	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49717400-49726800	Weak transcription	Right Atrium	heart
2	chr12:49717600-49725000	Weak transcription	Pancreas	Pancrea
3	chr12:49717800-49727000	Weak transcription	Esophagus	oesophagus
4	chr12:49718000-49724600	Weak transcription	Spleen	Spleen
5	chr12:49718000-49724800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:49718000-49725000	Weak transcription	Colonic Mucosa	Colon
7	chr12:49718000-49725000	Weak transcription	Fetal Heart	heart
8	chr12:49718000-49725000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:49718000-49725200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:49718000-49725200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:49718000-49725200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr12:49718000-49725400	Weak transcription	Placenta	Placenta
13	chr12:49718000-49726200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr12:49718000-49726400	Weak transcription	Primary B cells from cord blood	blood
15	chr12:49718000-49730200	Weak transcription	Gastric	stomach
16	chr12:49718200-49724400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:49718200-49725200	Weak transcription	Fetal Brain Female	brain
18	chr12:49718200-49725400	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:49718200-49725600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:49718200-49725600	Weak transcription	Fetal Kidney	kidney
21	chr12:49718400-49724200	Strong transcription	K562	blood
22	chr12:49718400-49724800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:49718400-49724800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:49718600-49725000	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:49718600-49725400	Strong transcription	NHEK	skin
26	chr12:49718600-49725600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:49719000-49724600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:49719200-49724200	Strong transcription	Fetal Muscle Trunk	muscle
29	chr12:49719200-49724400	Strong transcription	HepG2	liver
30	chr12:49719200-49724600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:49719200-49724600	Strong transcription	Fetal Muscle Leg	muscle
32	chr12:49719200-49724800	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:49719200-49725000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:49719200-49725000	Strong transcription	Fetal Intestine Small	intestine
35	chr12:49719200-49725200	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr12:49719200-49725200	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:49719200-49725200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:49719200-49725400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:49719200-49725400	Strong transcription	NHLF	lung
40	chr12:49719200-49725600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:49719200-49725600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr12:49719400-49724400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr12:49719400-49725400	Strong transcription	Fetal Thymus	thymus
44	chr12:49719400-49725400	Strong transcription	Thymus	Thymus
45	chr12:49719600-49724600	Strong transcription	GM12878-XiMat	blood
46	chr12:49719600-49725000	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr12:49719800-49724800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:49719800-49725200	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr12:49720000-49724200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr12:49720000-49725000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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