Variant report

Variant	rs532879928
Chromosome Location	chr12:67462991-67462992
allele	G/T
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	CTCF	chr12:67462940-67463090	HA-sp	spinal cord:	n/a	n/a
2	REST	chr12:67462564-67464233	H1-neurons	neurons:	n/a	chr12:67463228-67463238
3	TCF12	chr12:67462435-67463009	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr12:67462650-67463758	A549	lung:	n/a	n/a
5	POLR2A	chr12:67462479-67463066	MCF-7	breast:	n/a	n/a
6	POLR2A	chr12:67462663-67463098	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr12:67462880-67463030	AG04450	lung:	n/a	n/a
8	POLR2A	chr12:67462650-67463099	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr12:67462584-67463048	A549	lung:	n/a	n/a
10	CTCF	chr12:67462900-67463050	SK-N-SH_RA	brain:	n/a	n/a
11	POLR2A	chr12:67462652-67463025	U87	brain:	n/a	n/a
12	CTCF	chr12:67462900-67463050	HRPEpiC	eye:	n/a	n/a
13	TAF1	chr12:67462646-67463009	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr12:67462880-67463030	HEEpiC	esophagus:	n/a	n/a
15	CTCF	chr12:67462920-67463070	GM12866	blood:	n/a	n/a
16	POLR2A	chr12:67462329-67464062	MCF10A-Er-Src	breast:	n/a	n/a
17	CTCF	chr12:67462880-67463030	SK-N-SH_RA	brain:	n/a	n/a
18	CTCF	chr12:67462900-67463050	NHDF-neo	bronchial:	n/a	n/a
19	MAX	chr12:67462147-67463083	MCF-7	breast:	n/a	chr12:67462510-67462519 chr12:67462511-67462518
20	POLR2A	chr12:67462645-67463169	A549	lung:	n/a	n/a
21	CTCF	chr12:67462860-67463010	NHEK	skin:	n/a	n/a
22	ZBTB7A	chr12:67462104-67463105	ECC-1	luminal epithelium:	n/a	chr12:67462281-67462290
23	TAF1	chr12:67462756-67463062	H1-hESC	embryonic stem cell:	n/a	n/a
24	MYC	chr12:67462385-67463064	MCF10A-Er-Src	breast:	n/a	chr12:67462510-67462519 chr12:67462511-67462518
25	CTCF	chr12:67462880-67463030	HMEC	breast:	n/a	n/a
26	POLR2A	chr12:67462408-67463870	MCF-7	breast:	n/a	n/a
27	POLR2A	chr12:67462505-67463373	ProgFib	skin:	n/a	n/a
28	TBP	chr12:67462731-67463012	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr12:67462860-67463010	HepG2	liver:	n/a	n/a
30	POLR2A	chr12:67462637-67463007	A549	lung:	n/a	n/a
31	CTCF	chr12:67462900-67463050	GM12866	blood:	n/a	n/a
32	HDAC2	chr12:67462478-67463092	MCF-7	breast:	n/a	n/a
33	MAX	chr12:67462295-67463031	H1-hESC	embryonic stem cell:	n/a	chr12:67462510-67462519 chr12:67462511-67462518
34	CTCF	chr12:67462920-67463070	GM12868	blood:	n/a	n/a
35	UBTF	chr12:67462880-67463080	K562	blood:	n/a	n/a
36	POLR2A	chr12:67462429-67464085	HEK293	kidney:	n/a	n/a
37	CTCF	chr12:67462880-67463030	SAEC	small airway:	n/a	n/a
38	CTCF	chr12:67462900-67463050	HVMF	connective:	n/a	n/a
39	CTCF	chr12:67462920-67463070	GM12865	blood:	n/a	n/a
40	POLR2A	chr12:67462185-67463052	U87	brain:	n/a	n/a
41	SIN3A	chr12:67461413-67464289	H1-hESC	embryonic stem cell:	n/a	chr12:67462273-67462286 chr12:67462946-67462959
42	CTCF	chr12:67462864-67463001	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr12:67462860-67463010	AoAF	blood vessel:	n/a	n/a
44	CTCF	chr12:67462880-67463030	AG04449	skin:	n/a	n/a
45	CTCF	chr12:67462920-67463070	HUVEC	blood vessel:	n/a	n/a
46	ZBTB7A	chr12:67462457-67464023	ECC-1	luminal epithelium:	n/a	chr12:67463466-67463475
47	POLR2A	chr12:67462774-67463026	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr12:67462860-67463010	GM12864	blood:	n/a	n/a
49	CTCF	chr12:67462900-67463050	GM12873	blood:	n/a	n/a
50	POLR2A	chr12:67462652-67463050	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:67448355..67449925-chr12:67462962..67464949,2	MCF-7	breast:
2	chr12:67462768..67464522-chr12:67660868..67664362,4	MCF-7	breast:
3	chr12:67460777..67464522-chr12:67661841..67665703,9	MCF-7	breast:
4	chr12:67461965..67464455-chr12:67489883..67491932,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256248	TF binding region
ENSG00000111530	Chromatin interaction
ENSG00000257083	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv469462	chr12:67361657-67475906	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv559211	chr12:67361657-67475906	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	esv3376106	chr12:67461510-67464058	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67461200-67463800	Active TSS	Fetal Kidney	kidney
2	chr12:67461400-67463600	Active TSS	Colon Smooth Muscle	Colon
3	chr12:67461400-67464000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr12:67461600-67463800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:67461600-67464000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:67461800-67463600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:67461800-67463600	Active TSS	Right Atrium	heart
8	chr12:67461800-67463800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:67461800-67464000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr12:67461800-67464200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr12:67461800-67464200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:67462000-67463400	Active TSS	Colonic Mucosa	Colon
13	chr12:67462000-67463600	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr12:67462000-67463600	Active TSS	Primary T cells from cord blood	blood
15	chr12:67462000-67463600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:67462000-67463600	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr12:67462000-67463600	Active TSS	HMEC	breast
18	chr12:67462000-67463800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:67462000-67463800	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr12:67462000-67463800	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr12:67462000-67463800	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr12:67462000-67463800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:67462000-67463800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:67462000-67463800	Active TSS	HSMM	muscle
25	chr12:67462000-67464000	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr12:67462000-67464200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:67462000-67464200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:67462000-67464200	Active TSS	Brain Angular Gyrus	brain
29	chr12:67462200-67463400	Bivalent/Poised TSS	Thymus	Thymus
30	chr12:67462200-67463600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:67462200-67463600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:67462200-67463600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:67462200-67463600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:67462200-67463600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:67462200-67463600	Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr12:67462200-67463600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr12:67462200-67463600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr12:67462200-67463600	Active TSS	Aorta	Aorta
39	chr12:67462200-67463600	Active TSS	Placenta	Placenta
40	chr12:67462200-67463600	Active TSS	NH-A	brain
41	chr12:67462200-67463800	Active TSS	H1 Cell Line	embryonic stem cell
42	chr12:67462200-67463800	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr12:67462200-67463800	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr12:67462200-67463800	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr12:67462200-67464000	Active TSS	Brain Anterior Caudate	brain
46	chr12:67462200-67464000	Active TSS	Gastric	stomach
47	chr12:67462200-67464200	Active TSS	Rectal Smooth Muscle	rectum
48	chr12:67462400-67463200	Active TSS	HSMMtube	muscle
49	chr12:67462400-67463400	Bivalent/Poised TSS	Primary monocytes fromperipheralblood	blood
50	chr12:67462400-67463400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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