Variant report

Variant	rs71452571
Chromosome Location	chr12:12498225-12498226
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12496602..12498278-chr12:12498388..12501729,3	K562	blood:
2	chr12:12497428..12499912-chr12:12500992..12503884,2	MCF-7	breast:
3	chr12:12493698..12498336-chr12:12499976..12504386,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111261	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12814622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12821572	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs35033580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35190429	0.90[EUR][1000 genomes]
rs71457144	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71457148	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs71457149	1.00[AFR][1000 genomes];0.83[AMR][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	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
4	nsv898809	chr12:12488067-12509314	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 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	chr12:12473600-12502000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:12473800-12502400	Weak transcription	NHLF	lung
4	chr12:12480400-12502400	Weak transcription	Right Ventricle	heart
5	chr12:12481200-12502200	Weak transcription	Fetal Heart	heart
6	chr12:12481800-12502400	Weak transcription	Psoas Muscle	Psoas
7	chr12:12482400-12502200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:12483600-12502800	Weak transcription	Spleen	Spleen
9	chr12:12485400-12500200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:12485400-12502400	Weak transcription	Esophagus	oesophagus
11	chr12:12485400-12502800	Weak transcription	Gastric	stomach
12	chr12:12485400-12502800	Weak transcription	Small Intestine	intestine
13	chr12:12487200-12502600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr12:12487400-12502200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:12487400-12502200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:12487600-12502200	Weak transcription	Colonic Mucosa	Colon
17	chr12:12488000-12502000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:12489600-12502400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr12:12489600-12502600	Weak transcription	Placenta	Placenta
20	chr12:12489800-12502400	Weak transcription	Pancreas	Pancrea
21	chr12:12490800-12502400	Weak transcription	Brain Germinal Matrix	brain
22	chr12:12492000-12502400	Weak transcription	Aorta	Aorta
23	chr12:12492200-12502200	Weak transcription	Primary B cells from cord blood	blood
24	chr12:12492200-12502200	Weak transcription	Primary T cells from cord blood	blood
25	chr12:12492200-12502600	Weak transcription	Lung	lung
26	chr12:12492200-12502800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:12492400-12502000	Weak transcription	HUVEC	blood vessel
28	chr12:12492400-12502600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr12:12492800-12502000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:12493000-12501400	Weak transcription	K562	blood
31	chr12:12494200-12502200	Weak transcription	Brain Substantia Nigra	brain
32	chr12:12494200-12502600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr12:12494400-12502800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr12:12494600-12501800	Weak transcription	Brain Angular Gyrus	brain
35	chr12:12495000-12502000	Weak transcription	Fetal Brain Female	brain
36	chr12:12495200-12500200	Weak transcription	Fetal Intestine Small	intestine
37	chr12:12495200-12502000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr12:12495200-12502000	Weak transcription	Fetal Stomach	stomach
39	chr12:12495200-12502200	Weak transcription	Liver	Liver
40	chr12:12495200-12502200	Weak transcription	Fetal Brain Male	brain
41	chr12:12495200-12502600	Weak transcription	Left Ventricle	heart
42	chr12:12495400-12502600	Weak transcription	Ovary	ovary
43	chr12:12496200-12500000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:12496200-12501000	Weak transcription	Fetal Intestine Large	intestine
45	chr12:12496200-12501400	Weak transcription	Brain Anterior Caudate	brain
46	chr12:12496200-12501400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr12:12496200-12501800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:12496200-12502000	Weak transcription	Brain Hippocampus Middle	brain
49	chr12:12496200-12502000	Weak transcription	Colon Smooth Muscle	Colon
50	chr12:12496200-12502800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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