Variant report

Variant	rs11112312
Chromosome Location	chr12:105415326-105415327
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105380067..105381853-chr12:105414528..105417011,2	MCF-7	breast:
2	chr12:105414089..105415786-chr12:105418611..105420211,2	K562	blood:

Variant related genes	Relation type
ENSG00000151131	Chromatin interaction

Extended variants
information (count: 54 )
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];0.90[ASN][1000 genomes]
rs11112262	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11112267	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11112272	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11112273	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112274	0.87[EUR][1000 genomes]
rs11112275	0.87[EUR][1000 genomes]
rs11112278	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112280	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112281	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112282	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112289	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112290	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11112298	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11112300	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112301	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112302	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112304	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11112305	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112326	0.87[AMR][1000 genomes]
rs11519610	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11519721	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4405400	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs56741182	0.94[AMR][1000 genomes];0.98[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:3 , 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

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105389000-105430600	Weak transcription	Hela-S3	cervix
2	chr12:105393200-105418200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:105393400-105421200	Weak transcription	NHLF	lung
4	chr12:105393800-105417400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:105394000-105418000	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:105394200-105422800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:105394200-105435000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:105394800-105434200	Weak transcription	Brain Substantia Nigra	brain
9	chr12:105397400-105419400	Weak transcription	Fetal Brain Male	brain
10	chr12:105397400-105443200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:105407200-105419800	Weak transcription	Fetal Brain Female	brain
12	chr12:105407400-105418400	Weak transcription	Right Ventricle	heart
13	chr12:105407800-105415600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:105407800-105415800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:105407800-105416000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:105407800-105419400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:105407800-105419400	Weak transcription	Fetal Lung	lung
18	chr12:105407800-105425000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:105407800-105426000	Weak transcription	Fetal Intestine Small	intestine
20	chr12:105407800-105430200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:105407800-105434400	Weak transcription	Brain Hippocampus Middle	brain
22	chr12:105408000-105419800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr12:105408000-105434400	Weak transcription	Brain Angular Gyrus	brain
24	chr12:105408000-105434400	Weak transcription	Brain Anterior Caudate	brain
25	chr12:105408800-105418800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:105409200-105418000	Weak transcription	NH-A	brain
27	chr12:105409200-105425000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr12:105409200-105446800	Weak transcription	Left Ventricle	heart
29	chr12:105409400-105428800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:105409400-105465200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:105409600-105417000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr12:105409600-105418200	Weak transcription	Ovary	ovary
33	chr12:105409600-105418600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:105409600-105424000	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr12:105409600-105424600	Weak transcription	Dnd41	blood
36	chr12:105409600-105427800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr12:105409800-105424000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr12:105410200-105419400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:105410200-105424600	Weak transcription	A549	lung
40	chr12:105410600-105418800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:105410800-105415800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:105410800-105418400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:105410800-105419600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr12:105410800-105425000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:105410800-105430600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr12:105410800-105446400	Weak transcription	K562	blood
47	chr12:105411200-105419600	Strong transcription	Osteobl	bone
48	chr12:105412200-105417800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr12:105412200-105418200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:105412200-105424400	Weak transcription	Primary B cells from cord blood	blood

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