Variant report

Variant	rs545294067
Chromosome Location	chr12:117317451-117317452
allele	A/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	CTBP2	chr12:117316706-117317573	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3A	chr12:117317287-117317541	H1-hESC	embryonic stem cell:	n/a	chr12:117317453-117317462
3	POLR2A	chr12:117316664-117317547	H1-neurons	neurons:	n/a	n/a
4	SMARCB1	chr12:117316356-117318213	Hela-S3	cervix:	n/a	n/a
5	HA-E2F1	chr12:117317334-117317798	Hela-S3	cervix:	n/a	n/a
6	SUZ12	chr12:117316189-117319614	NT2-D1	testis:	n/a	n/a
7	HA-E2F1	chr12:117317058-117317944	MCF-7	breast:	n/a	n/a
8	MAX	chr12:117317440-117317879	Hela-S3	cervix:	n/a	chr12:117317471-117317480

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117174783..117176988-chr12:117316113..117318785,2	MCF-7	breast:
2	chr12:117317029..117319301-chr12:117346996..117349580,2	MCF-7	breast:

Variant related genes	Relation type
HRK	TF binding region
ENSG00000135119	Chromatin interaction
ENSG00000174989	Chromatin interaction
ENSG00000111412	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3338350	chr12:117316869-117321167	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117316000-117317800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr12:117316000-117320200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr12:117316200-117317600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
4	chr12:117316200-117317800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr12:117316200-117318000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:117316200-117318400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:117316200-117318600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
8	chr12:117316200-117318800	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr12:117316200-117320000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr12:117316200-117320200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr12:117316200-117320400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr12:117316200-117320400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:117316400-117317600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
14	chr12:117316400-117317600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:117316400-117317600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
16	chr12:117316400-117317800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:117316400-117317800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:117316400-117317800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:117316400-117317800	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr12:117316400-117317800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:117316400-117317800	Enhancers	Liver	Liver
22	chr12:117316400-117317800	Bivalent/Poised TSS	HSMM	muscle
23	chr12:117316400-117318400	Enhancers	Pancreas	Pancrea
24	chr12:117316400-117318600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:117316400-117318600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:117316400-117318600	Bivalent Enhancer	Fetal Brain Male	brain
27	chr12:117316400-117318800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:117316400-117318800	Enhancers	Gastric	stomach
29	chr12:117316400-117319000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:117316400-117319400	Bivalent Enhancer	Lung	lung
31	chr12:117316400-117320200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:117316600-117317600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
33	chr12:117316600-117317600	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr12:117316600-117317800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:117316600-117317800	Bivalent/Poised TSS	Psoas Muscle	Psoas
36	chr12:117316600-117317800	Active TSS	Right Atrium	heart
37	chr12:117316600-117318600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:117316600-117318600	Bivalent/Poised TSS	HSMMtube	muscle
39	chr12:117316600-117318800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
40	chr12:117316600-117320000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:117316800-117317600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
42	chr12:117316800-117317600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
43	chr12:117316800-117317600	Bivalent/Poised TSS	Brain Substantia Nigra	brain
44	chr12:117316800-117317800	Active TSS	Brain Angular Gyrus	brain
45	chr12:117316800-117318800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:117316800-117318800	Bivalent/Poised TSS	NHDF-Ad	bronchial
47	chr12:117316800-117319600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
48	chr12:117316800-117320200	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr12:117317000-117317600	Enhancers	Spleen	Spleen
50	chr12:117317000-117318200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood

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