Variant report

Variant	rs12312066
Chromosome Location	chr12:67716668-67716669
allele	A/G
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	chr12:67662800..67665177-chr12:67715531..67717213,2	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: 33 )
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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11176649	1.00[AMR][1000 genomes]
rs12301230	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12301290	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12301392	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12301453	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12302266	1.00[AMR][1000 genomes]
rs12302524	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12305775	1.00[AMR][1000 genomes]
rs12310041	1.00[AMR][1000 genomes]
rs12312713	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12315232	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12316486	1.00[AMR][1000 genomes]
rs12319094	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322809	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377685	1.00[AMR][1000 genomes]
rs17854617	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28545106	1.00[AMR][1000 genomes]
rs28646880	1.00[AMR][1000 genomes]
rs28677001	0.97[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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7970098	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7976779	0.97[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: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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67686000-67717000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:67688200-67717000	Strong transcription	NH-A	brain
3	chr12:67700200-67717600	Weak transcription	Gastric	stomach
4	chr12:67700600-67717400	Weak transcription	Psoas Muscle	Psoas
5	chr12:67706600-67720600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:67708800-67717200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:67708800-67717800	Weak transcription	Brain Anterior Caudate	brain
8	chr12:67709800-67716800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:67710000-67717400	Strong transcription	A549	lung
10	chr12:67710400-67716800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:67710400-67717000	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr12:67710600-67717000	Strong transcription	Thymus	Thymus
13	chr12:67710800-67717200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:67711000-67717600	Weak transcription	HUVEC	blood vessel
15	chr12:67711200-67717400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:67711200-67721400	Weak transcription	Fetal Brain Female	brain
17	chr12:67712000-67717200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:67712800-67718000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:67713400-67716800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:67713400-67718000	Weak transcription	NHLF	lung
21	chr12:67713400-67725000	Weak transcription	Dnd41	blood
22	chr12:67713600-67720800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:67714200-67717800	Strong transcription	HSMMtube	muscle
24	chr12:67714400-67719000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:67715200-67716800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr12:67715200-67718000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
27	chr12:67715200-67718200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr12:67715400-67717400	Weak transcription	Primary T cells from cord blood	blood
29	chr12:67715400-67717600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:67715600-67718400	Weak transcription	NHEK	skin
31	chr12:67715800-67717600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:67715800-67717800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:67715800-67718000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
34	chr12:67716000-67717000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
35	chr12:67716000-67717000	ZNF genes & repeats	Fetal Intestine Small	intestine
36	chr12:67716000-67717200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:67716000-67717200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:67716000-67717200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:67716000-67717600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:67716200-67716800	ZNF genes & repeats	Placenta	Placenta
41	chr12:67716200-67717000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:67716200-67717000	ZNF genes & repeats	Fetal Muscle Leg	muscle
43	chr12:67716200-67717400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:67716200-67717400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr12:67716200-67717400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:67716200-67717800	Weak transcription	Osteobl	bone
47	chr12:67716400-67716800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:67716400-67716800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr12:67716400-67716800	Genic enhancers	Fetal Muscle Trunk	muscle
50	chr12:67716400-67717400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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