Variant report

Variant	rs11112282
Chromosome Location	chr12:105386530-105386531
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105378619..105382506-chr12:105382781..105387261,4	MCF-7	breast:
2	chr12:105384826..105387201-chr12:105391835..105393587,2	K562	blood:

Variant related genes	Relation type
ENSG00000151131	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10507189	0.81[AMR][1000 genomes]
rs10861283	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10861284	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10861285	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10861289	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10861290	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10861298	0.95[ASN][1000 genomes]
rs11112214	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11112216	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11112219	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11112222	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11112226	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11112236	0.81[AMR][1000 genomes]
rs11112239	0.82[ASN][1000 genomes]
rs11112240	0.82[ASN][1000 genomes]
rs11112244	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11112247	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11112255	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11112262	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11112267	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11112272	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11112273	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112274	0.93[EUR][1000 genomes]
rs11112275	0.93[EUR][1000 genomes]
rs11112278	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112280	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112281	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112288	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112289	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112290	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11112298	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11112300	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112301	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112302	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112304	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11112305	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112312	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112317	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112326	0.87[AMR][1000 genomes]
rs11519610	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11519721	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12368856	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12371663	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12372030	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12372069	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12372636	0.84[AMR][1000 genomes]
rs16891	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4405400	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs56741182	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7303811	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9943769	0.95[ASN][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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv869	chr12:105363425-105394904	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105381000-105386800	Weak transcription	Psoas Muscle	Psoas
2	chr12:105381000-105388600	Weak transcription	Right Ventricle	heart
3	chr12:105381600-105387000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:105381600-105388600	Weak transcription	Spleen	Spleen
5	chr12:105381600-105392400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:105381600-105392400	Weak transcription	Stomach Mucosa	stomach
7	chr12:105381800-105386800	Weak transcription	Fetal Brain Male	brain
8	chr12:105381800-105388200	Weak transcription	HSMMtube	muscle
9	chr12:105381800-105388400	Weak transcription	Aorta	Aorta
10	chr12:105381800-105388400	Weak transcription	Brain Germinal Matrix	brain
11	chr12:105381800-105389200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:105381800-105392400	Weak transcription	Right Atrium	heart
13	chr12:105381800-105392800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr12:105381800-105392800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:105381800-105393600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:105381800-105398000	Strong transcription	A549	lung
17	chr12:105381800-105407400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:105381800-105411400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:105382000-105390800	Strong transcription	Fetal Muscle Leg	muscle
20	chr12:105382000-105392000	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr12:105382000-105394600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:105382000-105397800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:105382000-105401400	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr12:105382000-105401400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr12:105382200-105390000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:105382200-105392200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:105382200-105392800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr12:105382200-105395000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:105382200-105395200	Strong transcription	Primary B cells from cord blood	blood
30	chr12:105382200-105395600	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr12:105382200-105401400	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr12:105382200-105402000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:105382200-105402000	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr12:105382200-105402000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:105382200-105402600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:105382400-105387200	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr12:105382400-105387400	Strong transcription	Primary hematopoietic stem cells	blood
38	chr12:105382400-105387400	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr12:105382400-105401200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:105382400-105401400	Strong transcription	Liver	Liver
41	chr12:105382600-105389400	Strong transcription	HSMM	muscle
42	chr12:105382600-105391000	Strong transcription	Fetal Lung	lung
43	chr12:105382600-105397800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:105382800-105390800	Strong transcription	Fetal Thymus	thymus
45	chr12:105382800-105394600	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr12:105382800-105394800	Strong transcription	Primary T cells from cord blood	blood
47	chr12:105382800-105398000	Strong transcription	Adipose Nuclei	Adipose
48	chr12:105383000-105390800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr12:105383000-105391200	Strong transcription	HMEC	breast
50	chr12:105383000-105402000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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