Variant report

Variant	rs560485316
Chromosome Location	chr12:118624859-118624860
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118623962..118626821-chr12:118810133..118812850,4	MCF-7	breast:
2	chr12:118624725..118626657-chr12:118814280..118815876,2	K562	blood:
3	chr12:118624725..118628075-chr12:118814088..118815876,3	K562	blood:

Variant related genes	Relation type
ENSG00000111707	Chromatin interaction
ENSG00000135090	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1054703	chr12:118575000-118638613	Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv541611	chr12:118575000-118638613	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1035497	chr12:118599539-118732144	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv541612	chr12:118599539-118732144	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv524938	chr12:118624736-118740675	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118584000-118627600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:118599800-118625600	Weak transcription	Pancreas	Pancrea
3	chr12:118603600-118625400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:118610600-118625400	Weak transcription	Psoas Muscle	Psoas
5	chr12:118610600-118627600	Weak transcription	Esophagus	oesophagus
6	chr12:118612400-118626800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:118614400-118625600	Weak transcription	Right Ventricle	heart
8	chr12:118615200-118625400	Weak transcription	K562	blood
9	chr12:118617200-118625600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:118617200-118625600	Weak transcription	NH-A	brain
11	chr12:118617200-118634400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:118617400-118625400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:118619200-118625000	Weak transcription	Aorta	Aorta
14	chr12:118619200-118625600	Weak transcription	Placenta	Placenta
15	chr12:118619200-118626600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:118619200-118627600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:118619200-118638600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:118619400-118625400	Weak transcription	HSMMtube	muscle
19	chr12:118619400-118625600	Weak transcription	Ovary	ovary
20	chr12:118619400-118626200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:118619400-118626600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr12:118619400-118626600	Weak transcription	Left Ventricle	heart
23	chr12:118619400-118626800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr12:118619400-118626800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:118619400-118627400	Weak transcription	Lung	lung
26	chr12:118619400-118627600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:118619400-118627600	Weak transcription	Colonic Mucosa	Colon
28	chr12:118619400-118635200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:118619400-118635800	Weak transcription	Gastric	stomach
30	chr12:118619400-118635800	Weak transcription	Spleen	Spleen
31	chr12:118619600-118625400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:118619600-118625400	Weak transcription	Primary T cells from cord blood	blood
33	chr12:118619600-118625400	Weak transcription	Fetal Muscle Leg	muscle
34	chr12:118619600-118625400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:118619600-118625600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:118619600-118625600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr12:118619600-118625600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:118619600-118625600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr12:118619600-118625600	Weak transcription	Thymus	Thymus
40	chr12:118619600-118631000	Weak transcription	Fetal Thymus	thymus
41	chr12:118619600-118632800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr12:118619600-118635800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr12:118619800-118625400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:118619800-118625800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:118620200-118625400	Weak transcription	Brain Germinal Matrix	brain
46	chr12:118620200-118625600	Weak transcription	Primary B cells from peripheral blood	blood
47	chr12:118620200-118625600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:118620200-118626600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr12:118620200-118627600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr12:118620200-118635200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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