Variant report

Variant	rs73277493
Chromosome Location	chr12:12495067-12495068
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12492591..12496628-chr12:12508387..12511489,3	K562	blood:
2	chr12:12493055..12495438-chr12:12763586..12765777,2	MCF-7	breast:
3	chr12:12492591..12498034-chr12:12508387..12511659,4	K562	blood:
4	chr12:12493042..12496407-chr12:12508406..12511511,3	MCF-7	breast:
5	chr12:12419645..12421343-chr12:12493271..12495911,2	MCF-7	breast:
6	chr12:12493698..12498336-chr12:12499976..12504386,5	MCF-7	breast:
7	chr12:12494246..12497461-chr12:12509029..12511759,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165714	Chromatin interaction
ENSG00000070018	Chromatin interaction
ENSG00000205791	Chromatin interaction
ENSG00000111269	Chromatin interaction
ENSG00000111261	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs34668262	0.92[AFR][1000 genomes]
rs59783239	1.00[EUR][1000 genomes]
rs61082937	1.00[EUR][1000 genomes]
rs61445660	1.00[EUR][1000 genomes]
rs73277470	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73277472	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73277481	1.00[AFR][1000 genomes]
rs73279312	1.00[AFR][1000 genomes]
rs74061119	1.00[EUR][1000 genomes]
rs74061139	1.00[EUR][1000 genomes]
rs74061144	1.00[EUR][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:60 , 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	chr12:12481200-12495400	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:12481200-12502200	Weak transcription	Fetal Heart	heart
7	chr12:12481800-12502400	Weak transcription	Psoas Muscle	Psoas
8	chr12:12482400-12502200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:12483600-12502800	Weak transcription	Spleen	Spleen
10	chr12:12485400-12500200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:12485400-12502400	Weak transcription	Esophagus	oesophagus
12	chr12:12485400-12502800	Weak transcription	Gastric	stomach
13	chr12:12485400-12502800	Weak transcription	Small Intestine	intestine
14	chr12:12487200-12502600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr12:12487400-12502200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:12487400-12502200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:12487600-12502200	Weak transcription	Colonic Mucosa	Colon
18	chr12:12488000-12495800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:12488000-12495800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr12:12488000-12502000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:12488200-12495800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:12489200-12497600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:12489600-12502400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:12489600-12502600	Weak transcription	Placenta	Placenta
25	chr12:12489800-12502400	Weak transcription	Pancreas	Pancrea
26	chr12:12490800-12502400	Weak transcription	Brain Germinal Matrix	brain
27	chr12:12491200-12496400	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr12:12491200-12496400	Strong transcription	Stomach Smooth Muscle	stomach
29	chr12:12491600-12495200	Strong transcription	Fetal Stomach	stomach
30	chr12:12491800-12495400	Strong transcription	Ovary	ovary
31	chr12:12492000-12497200	Weak transcription	Stomach Mucosa	stomach
32	chr12:12492000-12502400	Weak transcription	Aorta	Aorta
33	chr12:12492200-12502200	Weak transcription	Primary B cells from cord blood	blood
34	chr12:12492200-12502200	Weak transcription	Primary T cells from cord blood	blood
35	chr12:12492200-12502600	Weak transcription	Lung	lung
36	chr12:12492200-12502800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:12492400-12502000	Weak transcription	HUVEC	blood vessel
38	chr12:12492400-12502600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:12492800-12495200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:12492800-12496200	Strong transcription	Brain Anterior Caudate	brain
41	chr12:12492800-12496400	Strong transcription	Duodenum Mucosa	Duodenum
42	chr12:12492800-12502000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:12493000-12501400	Weak transcription	K562	blood
44	chr12:12493200-12496200	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:12493600-12496400	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr12:12493600-12496400	Weak transcription	Thymus	Thymus
47	chr12:12493800-12495200	Strong transcription	Primary hematopoietic stem cells	blood
48	chr12:12494000-12495200	Strong transcription	Fetal Intestine Small	intestine
49	chr12:12494000-12495600	Weak transcription	Adipose Nuclei	Adipose
50	chr12:12494000-12496200	Strong transcription	Brain Hippocampus Middle	brain

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