Variant report

Variant	rs61922045
Chromosome Location	chr12:12494394-12494395
allele	A/C
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
ENSG00000111269	Chromatin interaction
ENSG00000111261	Chromatin interaction
ENSG00000205791	Chromatin interaction
ENSG00000070018	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1544684	0.91[AFR][1000 genomes]
rs17303178	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17375328	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2160588	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28372890	0.91[EUR][1000 genomes]
rs3741798	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825259	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55865572	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55892345	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56829405	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57725255	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61922023	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61922024	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61922025	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61922026	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61922027	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61922028	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61922044	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61922046	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61922047	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61922049	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61922052	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61922054	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61922057	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73277486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73277491	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73279305	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980482	0.84[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	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	chr12:12481200-12495400	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	chr12:12488000-12495000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:12488000-12495800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr12:12488000-12495800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:12488000-12502000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr12:12488200-12495800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:12489200-12497600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:12489600-12502400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr12:12489600-12502600	Weak transcription	Placenta	Placenta
26	chr12:12489800-12494600	Weak transcription	Liver	Liver
27	chr12:12489800-12502400	Weak transcription	Pancreas	Pancrea
28	chr12:12490800-12502400	Weak transcription	Brain Germinal Matrix	brain
29	chr12:12491200-12496400	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr12:12491200-12496400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr12:12491600-12495200	Strong transcription	Fetal Stomach	stomach
32	chr12:12491800-12494600	Strong transcription	Brain Angular Gyrus	brain
33	chr12:12491800-12495400	Strong transcription	Ovary	ovary
34	chr12:12492000-12497200	Weak transcription	Stomach Mucosa	stomach
35	chr12:12492000-12502400	Weak transcription	Aorta	Aorta
36	chr12:12492200-12494400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr12:12492200-12494400	Weak transcription	Left Ventricle	heart
38	chr12:12492200-12502200	Weak transcription	Primary B cells from cord blood	blood
39	chr12:12492200-12502200	Weak transcription	Primary T cells from cord blood	blood
40	chr12:12492200-12502600	Weak transcription	Lung	lung
41	chr12:12492200-12502800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:12492400-12502000	Weak transcription	HUVEC	blood vessel
43	chr12:12492400-12502600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr12:12492800-12494600	Genic enhancers	Fetal Intestine Large	intestine
45	chr12:12492800-12495200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:12492800-12496200	Strong transcription	Brain Anterior Caudate	brain
47	chr12:12492800-12496400	Strong transcription	Duodenum Mucosa	Duodenum
48	chr12:12492800-12502000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:12493000-12501400	Weak transcription	K562	blood
50	chr12:12493200-12495000	Strong transcription	Fetal Brain Female	brain

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