Variant report

Variant	rs116918050
Chromosome Location	chr12:123610753-123610754
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123609913..123612055-chr12:123613874..123616292,2	K562	blood:
2	chr12:123604029..123607309-chr12:123609256..123611485,3	K562	blood:
3	chr12:123609922..123611870-chr12:123629946..123632018,2	K562	blood:
4	chr12:123609306..123612030-chr12:123621213..123623739,2	K562	blood:
5	chr12:123577013..123578546-chr12:123609752..123612251,2	K562	blood:
6	chr12:123602721..123605164-chr12:123609329..123611695,2	MCF-7	breast:
7	chr12:123610238..123613639-chr12:123613854..123616666,3	K562	blood:
8	chr12:123603321..123605934-chr12:123608527..123611657,3	K562	blood:

No data

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

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1042550	chr12:123532028-123659500	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv870326	chr12:123585990-123719323	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	esv3405030	chr12:123610199-123614397	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123592800-123611200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:123594600-123634000	Weak transcription	Brain Germinal Matrix	brain
3	chr12:123595200-123610800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:123597800-123610800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:123599200-123624600	Weak transcription	Fetal Brain Female	brain
6	chr12:123600000-123611200	Weak transcription	Aorta	Aorta
7	chr12:123600600-123610800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:123600600-123610800	Weak transcription	Fetal Intestine Small	intestine
9	chr12:123600600-123610800	Weak transcription	Stomach Mucosa	stomach
10	chr12:123600600-123611000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:123600600-123611000	Weak transcription	Small Intestine	intestine
12	chr12:123601400-123611000	Weak transcription	Psoas Muscle	Psoas
13	chr12:123601600-123615800	Weak transcription	Pancreas	Pancrea
14	chr12:123602800-123610800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:123602800-123610800	Weak transcription	Fetal Heart	heart
16	chr12:123605000-123616000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:123605600-123610800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:123605800-123610800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:123605800-123610800	Weak transcription	Fetal Intestine Large	intestine
20	chr12:123605800-123610800	Weak transcription	Right Ventricle	heart
21	chr12:123605800-123610800	Weak transcription	Spleen	Spleen
22	chr12:123605800-123611000	Weak transcription	Brain Angular Gyrus	brain
23	chr12:123605800-123614200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:123605800-123624400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:123606000-123610800	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:123606000-123610800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:123606000-123610800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr12:123606000-123610800	Weak transcription	HSMMtube	muscle
29	chr12:123606000-123614600	Weak transcription	Colonic Mucosa	Colon
30	chr12:123606400-123610800	Weak transcription	Right Atrium	heart
31	chr12:123606600-123610800	Weak transcription	Esophagus	oesophagus
32	chr12:123606600-123610800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr12:123606600-123610800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr12:123606800-123610800	Weak transcription	Lung	lung
35	chr12:123606800-123610800	Weak transcription	Hela-S3	cervix
36	chr12:123607200-123610800	Weak transcription	Liver	Liver
37	chr12:123607200-123610800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:123607400-123610800	Weak transcription	Left Ventricle	heart
39	chr12:123607600-123619600	Genic enhancers	Fetal Thymus	thymus
40	chr12:123607800-123610800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr12:123607800-123610800	Weak transcription	Brain Anterior Caudate	brain
42	chr12:123607800-123610800	Weak transcription	Brain Hippocampus Middle	brain
43	chr12:123607800-123611000	Weak transcription	Primary B cells from cord blood	blood
44	chr12:123608000-123610800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:123608000-123610800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr12:123608000-123610800	Weak transcription	Colon Smooth Muscle	Colon
47	chr12:123608000-123614200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr12:123608200-123610800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr12:123608200-123611000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr12:123608400-123610800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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