Variant report

Variant	rs1066392
Chromosome Location	chr12:67717288-67717289
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:67712989..67715089-chr12:67716509..67719238,2	K562	blood:
2	chr12:67713525..67718128-chr12:67719850..67722693,5	MCF-7	breast:
3	chr12:67712478..67714489-chr12:67715652..67718009,2	K562	blood:
4	chr12:67716222..67717888-chr12:67718984..67721962,2	MCF-7	breast:
5	chr12:67714913..67718592-chr12:67718971..67722103,3	K562	blood:
6	chr12:67701166..67703768-chr12:67717126..67719527,2	MCF-7	breast:
7	chr12:67661017..67663110-chr12:67715146..67717539,2	K562	blood:

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]
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]
rs1186260	1.00[YRI][hapmap];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[YRI][hapmap];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	nsv756	chr12:67703587-67744743	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67700200-67717600	Weak transcription	Gastric	stomach
2	chr12:67700600-67717400	Weak transcription	Psoas Muscle	Psoas
3	chr12:67706600-67720600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:67708800-67717800	Weak transcription	Brain Anterior Caudate	brain
5	chr12:67710000-67717400	Strong transcription	A549	lung
6	chr12:67711000-67717600	Weak transcription	HUVEC	blood vessel
7	chr12:67711200-67717400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:67711200-67721400	Weak transcription	Fetal Brain Female	brain
9	chr12:67712800-67718000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr12:67713400-67718000	Weak transcription	NHLF	lung
11	chr12:67713400-67725000	Weak transcription	Dnd41	blood
12	chr12:67713600-67720800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr12:67714200-67717800	Strong transcription	HSMMtube	muscle
14	chr12:67714400-67719000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:67715200-67718000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
16	chr12:67715200-67718200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr12:67715400-67717400	Weak transcription	Primary T cells from cord blood	blood
18	chr12:67715400-67717600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:67715600-67718400	Weak transcription	NHEK	skin
20	chr12:67715800-67717600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:67715800-67717800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:67715800-67718000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
23	chr12:67716000-67717600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:67716200-67717400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:67716200-67717400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:67716200-67717400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:67716200-67717800	Weak transcription	Osteobl	bone
28	chr12:67716400-67717400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:67716400-67717600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:67716400-67718800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
31	chr12:67716600-67717800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr12:67716600-67732000	Weak transcription	HMEC	breast
33	chr12:67716600-67748000	Weak transcription	HSMM	muscle
34	chr12:67716800-67718600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:67717000-67717400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:67717000-67717400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:67717000-67717400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:67717000-67718600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr12:67717000-67718600	Weak transcription	NH-A	brain
40	chr12:67717000-67721400	Weak transcription	Thymus	Thymus
41	chr12:67717200-67717800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr12:67717200-67718000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:67717200-67718800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:67717200-67718800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:67717200-67718800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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