Variant report

Variant	rs17854617
Chromosome Location	chr12:67700124-67700125
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:67691505..67693452-chr12:67698059..67700311,2	K562	blood:
2	chr12:67697781..67702337-chr12:67703261..67707738,6	K562	blood:
3	chr12:67699472..67703250-chr12:67704428..67707950,5	K562	blood:
4	chr12:67661581..67665640-chr12:67700038..67707681,9	MCF-7	breast:
5	chr12:67660830..67663060-chr12:67697055..67700742,3	K562	blood:

Variant related genes	Relation type
ENSG00000111530	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11176600	1.00[AMR][1000 genomes]
rs11176632	1.00[AMR][1000 genomes]
rs11176648	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11176649	1.00[AMR][1000 genomes]
rs12301230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12301290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12301392	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12301453	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12302266	1.00[AMR][1000 genomes]
rs12302524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12305775	1.00[AMR][1000 genomes]
rs12310041	1.00[AMR][1000 genomes]
rs12312066	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312713	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12315232	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12316486	1.00[AMR][1000 genomes]
rs12319094	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322809	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377685	1.00[AMR][1000 genomes]
rs28545106	1.00[AMR][1000 genomes]
rs28646880	1.00[AMR][1000 genomes]
rs28677001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35314758	1.00[AMR][1000 genomes]
rs61685902	1.00[AMR][1000 genomes]
rs7298233	1.00[AMR][1000 genomes]
rs7967952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7970098	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7976779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7978475	1.00[AMR][1000 genomes]
rs9652023	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv525023	chr12:67672870-67708669	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67666000-67701000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr12:67674600-67708000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:67674800-67706400	Weak transcription	Stomach Mucosa	stomach
4	chr12:67681000-67714200	Weak transcription	Spleen	Spleen
5	chr12:67682200-67709000	Strong transcription	Dnd41	blood
6	chr12:67682200-67715200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:67682400-67707600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:67682600-67710600	Weak transcription	Right Ventricle	heart
9	chr12:67683400-67710600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:67684400-67708400	Strong transcription	GM12878-XiMat	blood
11	chr12:67685800-67708000	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:67686000-67717000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:67686200-67708800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:67686200-67711200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:67686200-67716200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:67686400-67707800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:67686400-67708800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:67686400-67708800	Strong transcription	Primary B cells from peripheral blood	blood
19	chr12:67686400-67708800	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr12:67686400-67709000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:67686400-67709000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:67686400-67716000	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:67686600-67708600	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr12:67686600-67708800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:67686600-67708800	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr12:67686800-67709000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr12:67687200-67708600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr12:67687600-67708200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr12:67687600-67708600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:67687600-67708800	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:67687600-67708800	Strong transcription	Liver	Liver
32	chr12:67687600-67708800	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr12:67687800-67715400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr12:67688000-67708400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:67688000-67709000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:67688200-67711400	Strong transcription	Placenta	Placenta
37	chr12:67688200-67717000	Strong transcription	NH-A	brain
38	chr12:67688400-67716000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:67688600-67707000	Strong transcription	Primary T cells from cord blood	blood
40	chr12:67688800-67711800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:67690000-67708800	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr12:67690200-67701000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:67691000-67709400	Strong transcription	HSMM	muscle
44	chr12:67691000-67716000	Weak transcription	Fetal Intestine Small	intestine
45	chr12:67692200-67709200	Strong transcription	A549	lung
46	chr12:67694000-67703000	Weak transcription	Fetal Heart	heart
47	chr12:67695400-67706400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr12:67695400-67707000	Strong transcription	Primary hematopoietic stem cells	blood
49	chr12:67695400-67708600	Strong transcription	Osteobl	bone
50	chr12:67695400-67709000	Strong transcription	HMEC	breast

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