Variant report

Variant	rs12314544
Chromosome Location	chr12:123321497-123321498
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123317720..123322313-chr12:123372173..123377754,7	MCF-7	breast:
2	chr12:123319192..123322007-chr12:123336993..123339222,2	MCF-7	breast:
3	chr12:123319262..123321924-chr12:123450152..123453465,3	K562	blood:
4	chr12:123321295..123323539-chr12:123344367..123346467,3	MCF-7	breast:
5	chr12:123321243..123322853-chr12:123379142..123381791,2	MCF-7	breast:
6	chr12:123321334..123323006-chr12:123430937..123432965,2	MCF-7	breast:
7	chr12:123318351..123322726-chr12:123344658..123350717,8	MCF-7	breast:
8	chr12:123213106..123215069-chr12:123321149..123322935,2	MCF-7	breast:
9	chr12:123320203..123322846-chr12:123716653..123718204,2	MCF-7	breast:
10	chr12:123320093..123322586-chr12:123715495..123717565,2	K562	blood:
11	chr12:123321291..123323892-chr12:123444965..123447071,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000256152	Chromatin interaction
ENSG00000139722	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000130787	Chromatin interaction
ENSG00000051825	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10773627	0.86[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs10773657	0.90[ASN][1000 genomes]
rs10847826	0.90[ASN][1000 genomes]
rs10847869	0.90[ASN][1000 genomes]
rs11059711	0.80[CHB][hapmap]
rs11060064	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11060065	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11060208	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11060209	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12255	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs12297553	0.81[EUR][1000 genomes]
rs12298151	0.87[ASN][1000 genomes]
rs12298664	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12303328	1.00[CEU][hapmap]
rs12305822	0.80[CHB][hapmap]
rs12307038	0.80[CHB][hapmap]
rs12310386	0.80[CHB][hapmap]
rs12312837	0.80[CHB][hapmap]
rs12313006	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs12314494	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314976	1.00[CEU][hapmap]
rs12319654	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321131	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12321556	0.80[CHB][hapmap]
rs12426809	0.90[ASN][1000 genomes]
rs1532835	0.88[ASN][1000 genomes]
rs1587856	0.80[ASN][1000 genomes]
rs1671685	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1696326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1696349	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1799618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979237	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2100500	1.00[ASN][1000 genomes]
rs2135014	0.81[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs2271050	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs2271051	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2292131	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292132	0.88[ASN][1000 genomes]
rs2292134	0.82[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs2292135	0.84[ASN][1000 genomes]
rs2292136	0.90[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs2292138	0.80[ASN][1000 genomes]
rs2292139	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2343108	0.88[ASN][1000 genomes]
rs2343109	0.80[ASN][1000 genomes]
rs2343685	0.90[ASN][1000 genomes]
rs2649908	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2649909	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2880678	0.90[ASN][1000 genomes]
rs3817094	0.87[ASN][1000 genomes]
rs3817095	0.80[CHB][hapmap]
rs3825143	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs3852536	0.86[ASN][1000 genomes]
rs3852537	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs4759355	0.90[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs4759382	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs4759389	0.86[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs4759392	0.81[ASN][1000 genomes]
rs4759393	0.86[CHB][hapmap]
rs56272219	1.00[ASN][1000 genomes]
rs58182048	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59192320	0.85[ASN][1000 genomes]
rs59922385	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60308342	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7138398	0.91[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs7294991	0.86[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs7303024	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7309225	0.86[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs7311386	0.81[CHB][hapmap]
rs73421642	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs735378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7398546	0.84[ASN][1000 genomes]
rs754080	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs839360	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs897385	0.80[ASN][1000 genomes]
rs897386	0.90[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs897391	0.86[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs897392	0.90[ASN][1000 genomes]
rs897393	0.86[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs921808	0.86[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs936083	0.82[ASN][1000 genomes]
rs937520	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs937766	0.88[ASN][1000 genomes]
rs9788290	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
6	nsv899574	chr12:123316566-123360151	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	esv3373177	chr12:123318824-123321872	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	esv3321940	chr12:123319399-123321597	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123318800-123321600	Active TSS	Brain Hippocampus Middle	brain
2	chr12:123318800-123321600	Active TSS	Ovary	ovary
3	chr12:123318800-123321600	Active TSS	Stomach Smooth Muscle	stomach
4	chr12:123318800-123322400	Active TSS	Brain Angular Gyrus	brain
5	chr12:123318800-123322400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr12:123319000-123321600	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr12:123319000-123321600	Active TSS	Left Ventricle	heart
8	chr12:123319000-123321600	Active TSS	Right Ventricle	heart
9	chr12:123319000-123321800	Active TSS	Right Atrium	heart
10	chr12:123319000-123322000	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr12:123319200-123321600	Active TSS	Esophagus	oesophagus
12	chr12:123319200-123321600	Active TSS	Sigmoid Colon	Sigmoid Colon
13	chr12:123319200-123321800	Active TSS	Aorta	Aorta
14	chr12:123319200-123321800	Active TSS	Brain Substantia Nigra	brain
15	chr12:123319600-123321600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:123319600-123321600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr12:123319600-123321600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:123319600-123321600	Active TSS	Colonic Mucosa	Colon
19	chr12:123319600-123321600	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr12:123319600-123321600	Active TSS	Small Intestine	intestine
21	chr12:123319600-123321600	Active TSS	HSMMtube	muscle
22	chr12:123319600-123321800	Active TSS	Pancreas	Pancrea
23	chr12:123319800-123321600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:123319800-123321600	Active TSS	Fetal Intestine Large	intestine
25	chr12:123319800-123321600	Active TSS	Psoas Muscle	Psoas
26	chr12:123320600-123321600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
27	chr12:123320600-123321600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr12:123320600-123321600	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr12:123320600-123321600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:123320600-123321600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:123320600-123321600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
32	chr12:123320600-123321600	Flanking Active TSS	Dnd41	blood
33	chr12:123320600-123321800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:123320600-123321800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr12:123320600-123321800	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr12:123320600-123321800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
37	chr12:123320600-123322400	Active TSS	Fetal Kidney	kidney
38	chr12:123320800-123321600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:123320800-123321600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:123320800-123321600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
41	chr12:123320800-123321600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr12:123320800-123321600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr12:123320800-123321600	Flanking Active TSS	K562	blood
44	chr12:123320800-123321600	Flanking Active TSS	NH-A	brain
45	chr12:123320800-123321600	Flanking Active TSS	Osteobl	bone
46	chr12:123320800-123321800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:123320800-123321800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr12:123320800-123321800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr12:123320800-123322000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr12:123320800-123322800	Flanking Active TSS	Liver	Liver

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