Variant report

Variant	rs2900263
Chromosome Location	chr12:12486233-12486234
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12419232..12421863-chr12:12485161..12488276,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070018	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12818821	0.89[ASN][1000 genomes]
rs1544684	0.85[EUR][1000 genomes]
rs1861676	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2111280	0.90[EUR][1000 genomes]
rs34796573	0.89[EUR][1000 genomes]
rs4763282	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61922041	0.89[EUR][1000 genomes]
rs61922042	0.89[EUR][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	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	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
3	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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12473200-12501600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:12473600-12493200	Weak transcription	Fetal Brain Female	brain
3	chr12:12473600-12502000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:12473800-12487600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:12473800-12491800	Weak transcription	Left Ventricle	heart
6	chr12:12473800-12502400	Weak transcription	NHLF	lung
7	chr12:12474000-12489200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:12474200-12486600	Weak transcription	Brain Substantia Nigra	brain
9	chr12:12476000-12486400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:12477000-12487600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr12:12477200-12491800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:12480400-12487400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr12:12480400-12490800	Weak transcription	Right Atrium	heart
14	chr12:12480400-12502400	Weak transcription	Right Ventricle	heart
15	chr12:12480800-12486400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr12:12480800-12486600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr12:12481000-12486400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr12:12481000-12486400	Weak transcription	Primary T cells from cord blood	blood
19	chr12:12481000-12486400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr12:12481000-12486400	Weak transcription	Dnd41	blood
21	chr12:12481000-12486400	Weak transcription	GM12878-XiMat	blood
22	chr12:12481000-12486600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr12:12481000-12487400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:12481200-12486400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr12:12481200-12486400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr12:12481200-12486600	Weak transcription	HepG2	liver
27	chr12:12481200-12487400	Weak transcription	A549	lung
28	chr12:12481200-12491000	Weak transcription	Hela-S3	cervix
29	chr12:12481200-12495400	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:12481200-12502200	Weak transcription	Fetal Heart	heart
31	chr12:12481800-12502400	Weak transcription	Psoas Muscle	Psoas
32	chr12:12482400-12502200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:12483600-12486400	Weak transcription	Aorta	Aorta
34	chr12:12483600-12486400	Weak transcription	Ovary	ovary
35	chr12:12483600-12487400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:12483600-12487400	Weak transcription	Adipose Nuclei	Adipose
37	chr12:12483600-12487600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:12483600-12487600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr12:12483600-12488400	Enhancers	Stomach Mucosa	stomach
40	chr12:12483600-12502800	Weak transcription	Spleen	Spleen
41	chr12:12484200-12486400	Weak transcription	Liver	Liver
42	chr12:12484200-12488200	Enhancers	Fetal Intestine Large	intestine
43	chr12:12484200-12488200	Enhancers	Fetal Lung	lung
44	chr12:12484400-12486600	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr12:12484600-12488200	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr12:12484800-12487800	Weak transcription	Placenta	Placenta
47	chr12:12484800-12491800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:12485000-12486400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr12:12485000-12487600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr12:12485200-12486400	Weak transcription	Brain Anterior Caudate	brain

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