Variant report

Variant	rs11054814
Chromosome Location	chr12:12480360-12480361
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12479190..12481721-chr12:12482518..12485352,2	MCF-7	breast:
2	chr12:12479198..12480920-chr12:12483064..12485250,2	K562	blood:
3	chr12:12419769..12421659-chr12:12478987..12480796,2	MCF-7	breast:
4	chr12:12480106..12480918-chr12:27090779..27091584,2	Hela-S3	cervix:
5	chr12:12419210..12421739-chr12:12479012..12482155,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111790	Chromatin interaction
ENSG00000070018	Chromatin interaction
ENSG00000064102	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11054810	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11054812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054813	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv832332	chr12:12344027-12484966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv898807	chr12:12448948-12502001	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv898808	chr12:12463407-12549503	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12466000-12484600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:12467000-12484400	Weak transcription	Small Intestine	intestine
3	chr12:12470600-12480800	Weak transcription	K562	blood
4	chr12:12472800-12480400	Weak transcription	Brain Angular Gyrus	brain
5	chr12:12473000-12482800	Weak transcription	Gastric	stomach
6	chr12:12473000-12483000	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:12473200-12485200	Weak transcription	HSMMtube	muscle
8	chr12:12473200-12501600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:12473400-12483000	Weak transcription	Aorta	Aorta
10	chr12:12473400-12484200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:12473600-12482600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:12473600-12485200	Weak transcription	NH-A	brain
13	chr12:12473600-12493200	Weak transcription	Fetal Brain Female	brain
14	chr12:12473600-12502000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:12473800-12483000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr12:12473800-12483000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:12473800-12484600	Weak transcription	Lung	lung
18	chr12:12473800-12486200	Weak transcription	Colonic Mucosa	Colon
19	chr12:12473800-12487600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:12473800-12491800	Weak transcription	Left Ventricle	heart
21	chr12:12473800-12502400	Weak transcription	NHLF	lung
22	chr12:12474000-12482800	Weak transcription	Ovary	ovary
23	chr12:12474000-12484400	Weak transcription	Pancreas	Pancrea
24	chr12:12474000-12489200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr12:12474200-12480400	Weak transcription	Fetal Intestine Small	intestine
26	chr12:12474200-12483000	Weak transcription	Fetal Intestine Large	intestine
27	chr12:12474200-12486600	Weak transcription	Brain Substantia Nigra	brain
28	chr12:12474400-12483000	Weak transcription	Fetal Stomach	stomach
29	chr12:12475600-12480600	Weak transcription	HepG2	liver
30	chr12:12476000-12484200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:12476000-12486400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr12:12477000-12480400	Weak transcription	A549	lung
33	chr12:12477000-12480600	Weak transcription	Fetal Kidney	kidney
34	chr12:12477000-12487600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr12:12477200-12486200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:12477200-12491800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:12478800-12480600	Weak transcription	Hela-S3	cervix
38	chr12:12479600-12480400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:12480000-12481200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr12:12480000-12481200	Enhancers	Liver	Liver
41	chr12:12480200-12480400	Enhancers	Right Atrium	heart
42	chr12:12480200-12480400	Enhancers	Right Ventricle	heart
43	chr12:12480200-12480400	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr12:12480200-12480400	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr12:12480200-12480400	Enhancers	Spleen	Spleen
46	chr12:12480200-12480800	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr12:12480200-12480800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr12:12480200-12481000	Enhancers	Primary T cells from cord blood	blood
49	chr12:12480200-12481000	Enhancers	Primary T cells fromperipheralblood	blood
50	chr12:12480200-12481000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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