Variant report

Variant	rs79165720
Chromosome Location	chr12:122687531-122687532
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr12:122687489-122689016	SK-N-SH	brain:	n/a	chr12:122688411-122688426
2	E2F6	chr12:122687529-122688660	A549	lung:	n/a	chr12:122688480-122688490 chr12:122688016-122688027
3	EP300	chr12:122686053-122688248	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr12:122687520-122687629	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:122686753..122691904-chr12:122708300..122712516,9	MCF-7	breast:
2	chr12:122459108..122461135-chr12:122685513..122688465,2	K562	blood:
3	chr12:122459025..122460608-chr12:122685513..122688221,2	K562	blood:
4	chr12:122614284..122615813-chr12:122686761..122688798,2	MCF-7	breast:
5	chr12:122612652..122615876-chr12:122685490..122688136,3	K562	blood:
6	chr12:122685663..122693033-chr12:122702446..122708793,8	K562	blood:
7	chr12:122684854..122691366-chr12:122708809..122712343,7	K562	blood:

Variant related genes	Relation type
B3GNT4	TF binding region
ENSG00000184047	Chromatin interaction
ENSG00000175727	Chromatin interaction
ENSG00000110987	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv1038827	chr12:122627371-122687913	Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv3363771	chr12:122687274-122690547	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122683400-122687600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:122687000-122687600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:122687000-122687800	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr12:122687000-122687800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr12:122687200-122687600	Bivalent Enhancer	Primary B cells from cord blood	blood
6	chr12:122687200-122687600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
7	chr12:122687200-122687600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr12:122687200-122687600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:122687200-122687600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
10	chr12:122687200-122687600	Bivalent Enhancer	Fetal Intestine Large	intestine
11	chr12:122687200-122687600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr12:122687200-122687800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:122687200-122687800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:122687400-122687600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:122687400-122687600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
16	chr12:122687400-122687600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:122687400-122687600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr12:122687400-122687600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:122687400-122687600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
20	chr12:122687400-122687600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:122687400-122687600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:122687400-122687600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:122687400-122687600	Enhancers	Brain Anterior Caudate	brain
24	chr12:122687400-122687600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
25	chr12:122687400-122687600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
26	chr12:122687400-122687600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr12:122687400-122687600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr12:122687400-122687600	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr12:122687400-122687600	Bivalent Enhancer	Placenta	Placenta
30	chr12:122687400-122687600	Bivalent Enhancer	Fetal Stomach	stomach
31	chr12:122687400-122687600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
32	chr12:122687400-122687600	Enhancers	Right Ventricle	heart
33	chr12:122687400-122687600	Enhancers	HMEC	breast
34	chr12:122687400-122687600	Enhancers	NHEK	skin
35	chr12:122687400-122687800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:122687400-122687800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
37	chr12:122687400-122687800	Enhancers	Liver	Liver
38	chr12:122687400-122687800	Bivalent Enhancer	Colonic Mucosa	Colon
39	chr12:122687400-122687800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
40	chr12:122687400-122687800	Enhancers	Esophagus	oesophagus
41	chr12:122687400-122687800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
42	chr12:122687400-122687800	Bivalent Enhancer	Fetal Thymus	thymus
43	chr12:122687400-122687800	Enhancers	Gastric	stomach
44	chr12:122687400-122687800	Enhancers	Lung	lung
45	chr12:122687400-122687800	Bivalent/Poised TSS	Ovary	ovary
46	chr12:122687400-122687800	Enhancers	Pancreas	Pancrea
47	chr12:122687400-122687800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
48	chr12:122687400-122687800	Bivalent Enhancer	Stomach Mucosa	stomach
49	chr12:122687400-122687800	Enhancers	Spleen	Spleen
50	chr12:122687400-122688000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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