Variant report

Variant	rs564826486
Chromosome Location	chr12:104697225-104697226
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:93)
CpG islands
(count:183)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:93 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr12:104696811-104698807	A549	lung:	n/a	n/a
2	SP1	chr12:104696322-104698630	A549	lung:	n/a	n/a
3	FOSL2	chr12:104696444-104698901	A549	lung:	n/a	n/a
4	POLR2A	chr12:104697148-104697840	GM12891	blood:	n/a	n/a
5	PML	chr12:104696951-104698125	GM12878	blood:	n/a	n/a
6	ATF2	chr12:104697088-104697497	H1-hESC	embryonic stem cell:	n/a	n/a
7	JUND	chr12:104696965-104698155	A549	lung:	n/a	n/a
8	POLR2A	chr12:104697112-104697894	GM12891	blood:	n/a	n/a
9	MXI1	chr12:104697150-104697670	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr12:104696633-104697254	K562	blood:	n/a	n/a
11	POLR2A	chr12:104696416-104698790	HUVEC	blood vessel:	n/a	n/a
12	REST	chr12:104697202-104697454	PANC-1	pancreas:	n/a	n/a
13	MAZ	chr12:104696996-104698190	IMR90	lung:	n/a	n/a
14	ETS1	chr12:104697062-104698857	A549	lung:	n/a	chr12:104697900-104697907 chr12:104697692-104697703 chr12:104697872-104697881
15	POLR2A	chr12:104696675-104698020	GM12892	blood:	n/a	n/a
16	YY1	chr12:104696725-104698405	A549	lung:	n/a	chr12:104697692-104697703 chr12:104698302-104698312 chr12:104697691-104697700
17	SP4	chr12:104697197-104697991	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr12:104696659-104698041	GM12892	blood:	n/a	n/a
19	POLR2A	chr12:104697215-104697904	GM19193	blood:	n/a	n/a
20	SP1	chr12:104695282-104698790	A549	lung:	n/a	n/a
21	BHLHE40	chr12:104697132-104697778	GM12878	blood:	n/a	n/a
22	POLR2A	chr12:104697029-104697281	A549	lung:	n/a	n/a
23	MAX	chr12:104696465-104698833	A549	lung:	n/a	chr12:104698605-104698614
24	RUNX3	chr12:104697040-104698045	GM12878	blood:	n/a	n/a
25	TCF12	chr12:104695268-104701849	A549	lung:	n/a	n/a
26	POLR2A	chr12:104696486-104697391	K562	blood:	n/a	n/a
27	CREB1	chr12:104697137-104697993	A549	lung:	n/a	n/a
28	MAX	chr12:104697212-104697821	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr12:104697198-104697279	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD1	chr12:104697127-104697388	H1-hESC	embryonic stem cell:	n/a	n/a
31	YY1	chr12:104697058-104697997	GM12892	blood:	n/a	chr12:104697692-104697703 chr12:104697691-104697700
32	POLR2A	chr12:104696354-104701825	PANC-1	pancreas:	n/a	n/a
33	POLR2A	chr12:104696544-104702660	HepG2	liver:	n/a	n/a
34	MAX	chr12:104697142-104698062	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr12:104684682-104705657	A549	lung:	n/a	n/a
36	TCF12	chr12:104696922-104698469	A549	lung:	n/a	n/a
37	SIX5	chr12:104695288-104701950	A549	lung:	n/a	chr12:104700345-104700361 chr12:104699538-104699547 chr12:104698479-104698493 chr12:104700866-104700882
38	REST	chr12:104696751-104697313	A549	lung:	n/a	n/a
39	REST	chr12:104696446-104701824	A549	lung:	n/a	chr12:104698081-104698101 chr12:104697868-104697886 chr12:104698081-104698101 chr12:104698082-104698100 chr12:104698081-104698101
40	BCLAF1	chr12:104697208-104697877	GM12878	blood:	n/a	chr12:104697692-104697701 chr12:104697695-104697704
41	POLR2A	chr12:104696471-104698728	HUVEC	blood vessel:	n/a	n/a
42	E2F6	chr12:104697133-104698232	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr12:104696555-104698600	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr12:104697140-104698040	GM12878	blood:	n/a	n/a
45	MAX	chr12:104696614-104698343	A549	lung:	n/a	n/a
46	YY1	chr12:104697223-104697930	H1-hESC	embryonic stem cell:	n/a	chr12:104697692-104697703 chr12:104697691-104697700
47	STAT5A	chr12:104697100-104697777	GM12878	blood:	n/a	chr12:104697610-104697630 chr12:104697616-104697624 chr12:104697610-104697630 chr12:104697616-104697625 chr12:104697615-104697624
48	PAX5	chr12:104696942-104697255	GM12878	blood:	n/a	n/a
49	POLR2A	chr12:104696637-104697373	K562	blood:	n/a	n/a
50	SIN3AK20	chr12:104696527-104697457	A549	lung:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:104697193-104697243	PFSK-1	brain:	n/a
2	chr12:104697193-104697243	HepG2	liver:	n/a
3	chr12:104697193-104697243	SK-N-SH_RA	brain:	n/a
4	chr12:104697224-104697274	T-47D	breast:	n/a
5	chr12:104697193-104697243	AG10803	skin:	n/a
6	chr12:104697224-104697274	HCM	heart:	n/a
7	chr12:104697224-104697274	PrEC	prostate:	n/a
8	chr12:104697193-104697243	AG09319	gingival:	n/a
9	chr12:104697220-104697270	HepG2	liver:	n/a
10	chr12:104697193-104697243	HCF	heart:	n/a
11	chr12:104697193-104697243	K562	blood:	n/a
12	chr12:104697220-104697270	ovcar-3	ovarian:	n/a
13	chr12:104697220-104697270	NT2-D1	testis:	n/a
14	chr12:104697220-104697270	PANC-1	pancreas:	n/a
15	chr12:104697193-104697243	Caco-2	colon:	n/a
16	chr12:104697193-104697243	SKMC	muscle:	n/a
17	chr12:104697220-104697270	HNPCEpiC	eye:	n/a
18	chr12:104697224-104697274	BJ	skin:	n/a
19	chr12:104697220-104697270	AG09309	skin:	n/a
20	chr12:104697224-104697274	NH-A	brain:	n/a
21	chr12:104697224-104697274	K562	blood:	n/a
22	chr12:104697193-104697243	HEEpiC	esophagus:	n/a
23	chr12:104697224-104697274	NB4	blood:	n/a
24	chr12:104697220-104697270	AG04449	skin:	fetal
25	chr12:104697193-104697243	A549	lung:	n/a
26	chr12:104697220-104697270	T-47D	breast:	n/a
27	chr12:104697220-104697270	HPAEpiC	pulmonary alveolar:	n/a
28	chr12:104697224-104697274	Jurkat	blood:	n/a
29	chr12:104697224-104697274	HRE	kidney:	n/a
30	chr12:104697193-104697243	ECC-1	luminal epithelium:	n/a
31	chr12:104697193-104697243	GM12891	blood:	n/a
32	chr12:104697220-104697270	RPTEC	kidney:	n/a
33	chr12:104697220-104697270	H1-hESC	embryonic stem cell:	embryo
34	chr12:104697224-104697274	HEK293	kidney:	embryo
35	chr12:104697193-104697243	GM19239	blood:	n/a
36	chr12:104697193-104697243	AG04450	lung:	fetal
37	chr12:104697220-104697270	SKMC	muscle:	n/a
38	chr12:104697220-104697270	Hepatocyte	liver:	n/a
39	chr12:104697193-104697243	Hela-S3	cervix:	n/a
40	chr12:104697193-104697243	SAEC	small airway:	n/a
41	chr12:104697220-104697270	AG09319	gingival:	n/a
42	chr12:104697224-104697274	H1-hESC	embryonic stem cell:	embryo
43	chr12:104697193-104697243	RPTEC	kidney:	n/a
44	chr12:104697193-104697243	HEK293	kidney:	embryo
45	chr12:104697224-104697274	AG04450	lung:	fetal
46	chr12:104697193-104697243	SK-N-MC	brain:	n/a
47	chr12:104697220-104697270	BE2_C	brain:	n/a
48	chr12:104697220-104697270	HRCEpiC	kidney:	n/a
49	chr12:104697224-104697274	GM19239	blood:	n/a
50	chr12:104697193-104697243	NH-A	brain:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104696590..104698591-chr12:104702374..104705113,2	MCF-7	breast:
2	chr12:104680142..104683904-chr12:104694272..104698636,5	MCF-7	breast:

No data

Variant related genes	Relation type
EID3	TF binding region
EID3	CpG island
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS 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	32 gene(s)	inside rSNPs	diseases
4	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv1048075	chr12:104694799-104751460	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv541588	chr12:104694799-104751460	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv52994	chr12:104696286-104701777	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104683800-104723800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:104686200-104700600	Strong transcription	Dnd41	blood
3	chr12:104686400-104697600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:104687200-104700600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:104687600-104697400	Weak transcription	Gastric	stomach
6	chr12:104689600-104697400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:104690400-104697600	Weak transcription	Lung	lung
8	chr12:104690800-104698000	Genic enhancers	Hela-S3	cervix
9	chr12:104691200-104702200	Transcr. at gene 5' and 3'	A549	lung
10	chr12:104691800-104703400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:104695800-104700800	Strong transcription	K562	blood
12	chr12:104696200-104698400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:104696600-104697400	Enhancers	Small Intestine	intestine
14	chr12:104696600-104697800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:104696600-104698200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
16	chr12:104696600-104698400	Transcr. at gene 5' and 3'	Osteobl	bone
17	chr12:104696600-104701600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:104696800-104697400	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr12:104696800-104697400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:104696800-104697400	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr12:104696800-104697400	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr12:104696800-104697400	Enhancers	Esophagus	oesophagus
23	chr12:104696800-104697400	Enhancers	Pancreas	Pancrea
24	chr12:104696800-104697400	Flanking Active TSS	Rectal Smooth Muscle	rectum
25	chr12:104696800-104697400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr12:104696800-104697600	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr12:104696800-104697600	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr12:104696800-104697600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:104696800-104697800	Active TSS	H9 Cell Line	embryonic stem cell
30	chr12:104696800-104697800	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr12:104696800-104697800	Enhancers	Fetal Heart	heart
32	chr12:104696800-104698000	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr12:104696800-104698000	Transcr. at gene 5' and 3'	HSMM	muscle
34	chr12:104696800-104698200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:104696800-104698200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr12:104696800-104698200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:104696800-104698200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:104696800-104698400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:104696800-104698400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:104696800-104698400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
41	chr12:104696800-104698400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr12:104696800-104698800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr12:104696800-104699200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:104697000-104697400	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
45	chr12:104697000-104697400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:104697000-104697400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr12:104697000-104697400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:104697000-104697400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr12:104697000-104697400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:104697000-104697400	Flanking Active TSS	Liver	Liver

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