Variant report

Variant	rs372481273
Chromosome Location	chr12:120425820-120425821
allele	C/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120425735..120427312-chr12:120553344..120556119,2	MCF-7	breast:
2	chr12:120424652..120426403-chr12:120728776..120730834,2	MCF-7	breast:
3	chr12:120420153..120423656-chr12:120424541..120427660,4	MCF-7	breast:
4	chr12:120313729..120318058-chr12:120425281..120428238,3	K562	blood:
5	chr12:120424138..120428272-chr12:120728453..120731316,5	K562	blood:
6	chr12:120425209..120429306-chr12:120552934..120555400,5	MCF-7	breast:
7	chr12:120424699..120427677-chr12:120728453..120732318,6	K562	blood:
8	chr12:120420772..120424084-chr12:120424860..120426963,3	MCF-7	breast:
9	chr12:120425404..120428200-chr12:120435927..120438924,2	K562	blood:
10	chr12:120425546..120427435-chr12:120477512..120479258,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000122966	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000111737	Chromatin interaction
ENSG00000135127	Chromatin interaction
ENSG00000200795	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv510575	chr12:120303163-120437490	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv899554	chr12:120389613-120513625	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv1805506	chr12:120419963-120427915	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	esv1819565	chr12:120419963-120427915	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	esv1830757	chr12:120419963-120427915	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	esv1838328	chr12:120419963-120427915	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	esv1835423	chr12:120420670-120427915	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	esv1841015	chr12:120420670-120427915	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	nsv560399	chr12:120421825-120427177	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
12	nsv560400	chr12:120421825-120427688	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
13	nsv560401	chr12:120421825-120427915	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
14	nsv560402	chr12:120423472-120427457	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
15	nsv560403	chr12:120423472-120427862	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
16	esv3421380	chr12:120424669-120428967	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120424600-120426200	Enhancers	H9 Cell Line	embryonic stem cell
2	chr12:120425400-120426000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
3	chr12:120425600-120426000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
4	chr12:120425600-120426000	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr12:120425600-120426000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:120425600-120426200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:120425600-120426200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr12:120425800-120426000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
9	chr12:120425800-120426000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
10	chr12:120425800-120426000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
11	chr12:120425800-120426000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
12	chr12:120425800-120426000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr12:120425800-120426000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:120425800-120426000	Enhancers	Brain Cingulate Gyrus	brain
15	chr12:120425800-120426000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
16	chr12:120425800-120426000	Bivalent Enhancer	Fetal Brain Female	brain
17	chr12:120425800-120426000	Bivalent Enhancer	A549	lung
18	chr12:120425800-120426200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
19	chr12:120425800-120426200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:120425800-120426200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
21	chr12:120425800-120426200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:120425800-120426200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr12:120425800-120426200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:120425800-120426200	Enhancers	Primary B cells from peripheral blood	blood
25	chr12:120425800-120426200	Enhancers	Primary T cells fromperipheralblood	blood
26	chr12:120425800-120426200	Enhancers	Primary hematopoietic stem cells	blood
27	chr12:120425800-120426200	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr12:120425800-120426200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr12:120425800-120426200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:120425800-120426200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:120425800-120426200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:120425800-120426200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr12:120425800-120426200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr12:120425800-120426200	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr12:120425800-120426200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
36	chr12:120425800-120426200	Bivalent Enhancer	Dnd41	blood
37	chr12:120425800-120426200	Enhancers	Hela-S3	cervix
38	chr12:120425800-120426200	Enhancers	HepG2	liver
39	chr12:120425800-120426200	Enhancers	HMEC	breast
40	chr12:120425800-120426200	Enhancers	K562	blood
41	chr12:120425800-120426400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:120425800-120426400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
43	chr12:120425800-120426400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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