Variant report

Variant	rs1186260
Chromosome Location	chr12:67702701-67702702
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:67701153..67702973-chr12:67706397..67708069,2	MCF-7	breast:
2	chr12:67701166..67703768-chr12:67717126..67719527,2	MCF-7	breast:
3	chr12:67699472..67703250-chr12:67704428..67707950,5	K562	blood:
4	chr12:67661581..67665640-chr12:67700038..67707681,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111530	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1066392	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1066397	1.00[AMR][1000 genomes]
rs1082703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082707	1.00[AFR][1000 genomes]
rs1082712	1.00[AFR][1000 genomes]
rs1082719	1.00[AFR][1000 genomes]
rs1143757	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1143946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1143955	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1152891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1152899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1152903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1252363	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1252409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1252411	1.00[AMR][1000 genomes]
rs1252420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1252433	1.00[AFR][1000 genomes]
rs1392588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1392589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1658782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1697249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1732541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55873224	1.00[AMR][1000 genomes]
rs710621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs710799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74099404	1.00[AMR][1000 genomes]
rs74099424	1.00[AMR][1000 genomes]
rs74099464	1.00[AMR][1000 genomes]
rs775311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775640	1.00[AMR][1000 genomes]
rs775642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775649	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs812882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs812883	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][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	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
2	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
3	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	chr12:67674600-67708000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:67674800-67706400	Weak transcription	Stomach Mucosa	stomach
3	chr12:67681000-67714200	Weak transcription	Spleen	Spleen
4	chr12:67682200-67709000	Strong transcription	Dnd41	blood
5	chr12:67682200-67715200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:67682400-67707600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:67682600-67710600	Weak transcription	Right Ventricle	heart
8	chr12:67683400-67710600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:67684400-67708400	Strong transcription	GM12878-XiMat	blood
10	chr12:67685800-67708000	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr12:67686000-67717000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:67686200-67708800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:67686200-67711200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:67686200-67716200	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:67686400-67707800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:67686400-67708800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:67686400-67708800	Strong transcription	Primary B cells from peripheral blood	blood
18	chr12:67686400-67708800	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr12:67686400-67709000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:67686400-67709000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:67686400-67716000	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr12:67686600-67708600	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr12:67686600-67708800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:67686600-67708800	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr12:67686800-67709000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr12:67687200-67708600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr12:67687600-67708200	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr12:67687600-67708600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:67687600-67708800	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:67687600-67708800	Strong transcription	Liver	Liver
31	chr12:67687600-67708800	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr12:67687800-67715400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:67688000-67708400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:67688000-67709000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:67688200-67711400	Strong transcription	Placenta	Placenta
36	chr12:67688200-67717000	Strong transcription	NH-A	brain
37	chr12:67688400-67716000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:67688600-67707000	Strong transcription	Primary T cells from cord blood	blood
39	chr12:67688800-67711800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:67690000-67708800	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr12:67691000-67709400	Strong transcription	HSMM	muscle
42	chr12:67691000-67716000	Weak transcription	Fetal Intestine Small	intestine
43	chr12:67692200-67709200	Strong transcription	A549	lung
44	chr12:67694000-67703000	Weak transcription	Fetal Heart	heart
45	chr12:67695400-67706400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr12:67695400-67707000	Strong transcription	Primary hematopoietic stem cells	blood
47	chr12:67695400-67708600	Strong transcription	Osteobl	bone
48	chr12:67695400-67709000	Strong transcription	HMEC	breast
49	chr12:67695600-67708800	Strong transcription	HUVEC	blood vessel
50	chr12:67695800-67706600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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