Variant report

Variant	rs551672924
Chromosome Location	chr12:104697475-104697476
allele	C/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	ATF3	chr12:104696811-104698807	A549	lung:	n/a	n/a
2	SP1	chr12:104696322-104698630	A549	lung:	n/a	n/a
3	CTCF	chr12:104697417-104697559	Spleen_OC	spleen:	n/a	n/a
4	FOSL2	chr12:104696444-104698901	A549	lung:	n/a	n/a
5	POLR2A	chr12:104697148-104697840	GM12891	blood:	n/a	n/a
6	PML	chr12:104696951-104698125	GM12878	blood:	n/a	n/a
7	ATF2	chr12:104697088-104697497	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr12:104697454-104698517	A549	lung:	n/a	n/a
9	JUND	chr12:104696965-104698155	A549	lung:	n/a	n/a
10	POLR2A	chr12:104697273-104697838	HUVEC	blood vessel:	n/a	n/a
11	TAF1	chr12:104697302-104697729	GM12878	blood:	n/a	n/a
12	SIN3AK20	chr12:104697462-104698781	A549	lung:	n/a	n/a
13	POLR2A	chr12:104697112-104697894	GM12891	blood:	n/a	n/a
14	MXI1	chr12:104697150-104697670	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr12:104697292-104698053	H1-hESC	embryonic stem cell:	n/a	n/a
16	E2F4	chr12:104697377-104697596	GM12878	blood:	n/a	n/a
17	POLR2A	chr12:104696416-104698790	HUVEC	blood vessel:	n/a	n/a
18	NRF1	chr12:104697339-104697713	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAZ	chr12:104696996-104698190	IMR90	lung:	n/a	n/a
20	ETS1	chr12:104697062-104698857	A549	lung:	n/a	chr12:104697900-104697907 chr12:104697692-104697703 chr12:104697872-104697881
21	E2F6	chr12:104697290-104698057	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr12:104696675-104698020	GM12892	blood:	n/a	n/a
23	YY1	chr12:104696725-104698405	A549	lung:	n/a	chr12:104697692-104697703 chr12:104698302-104698312 chr12:104697691-104697700
24	SP4	chr12:104697197-104697991	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr12:104697243-104697897	GM19099	blood:	n/a	n/a
26	POLR2A	chr12:104696659-104698041	GM12892	blood:	n/a	n/a
27	POLR2A	chr12:104697282-104698053	A549	lung:	n/a	n/a
28	CHD2	chr12:104697303-104697791	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr12:104697215-104697904	GM19193	blood:	n/a	n/a
30	SP1	chr12:104695282-104698790	A549	lung:	n/a	n/a
31	BHLHE40	chr12:104697132-104697778	GM12878	blood:	n/a	n/a
32	MYC	chr12:104697400-104697547	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr12:104696465-104698833	A549	lung:	n/a	chr12:104698605-104698614
34	RUNX3	chr12:104697040-104698045	GM12878	blood:	n/a	n/a
35	TCF12	chr12:104695268-104701849	A549	lung:	n/a	n/a
36	CEBPB	chr12:104697474-104697593	H1-hESC	embryonic stem cell:	n/a	n/a
37	CREB1	chr12:104697137-104697993	A549	lung:	n/a	n/a
38	MAX	chr12:104697212-104697821	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr12:104697291-104698000	A549	lung:	n/a	n/a
40	NRF1	chr12:104697324-104697717	GM12878	blood:	n/a	n/a
41	PBX3	chr12:104697451-104698276	A549	lung:	n/a	n/a
42	ELF1	chr12:104697418-104698560	A549	lung:	n/a	chr12:104697691-104697700
43	REST	chr12:104697451-104698204	A549	lung:	n/a	chr12:104698081-104698101 chr12:104697868-104697886 chr12:104698081-104698101 chr12:104698082-104698100 chr12:104698081-104698101
44	YY1	chr12:104697058-104697997	GM12892	blood:	n/a	chr12:104697692-104697703 chr12:104697691-104697700
45	CHD2	chr12:104697465-104697823	GM12878	blood:	n/a	n/a
46	POLR2A	chr12:104696354-104701825	PANC-1	pancreas:	n/a	n/a
47	POLR2A	chr12:104697467-104697861	ProgFib	skin:	n/a	n/a
48	POLR2A	chr12:104696544-104702660	HepG2	liver:	n/a	n/a
49	RCOR1	chr12:104697377-104697736	GM12878	blood:	n/a	n/a
50	JUND	chr12:104697261-104697857	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104697280..104698161-chr5:39074151..39074953,2	Hela-S3	cervix:
2	chr12:104696590..104698591-chr12:104702374..104705113,2	MCF-7	breast:
3	chr12:104680142..104683904-chr12:104694272..104698636,5	MCF-7	breast:

Variant related genes	Relation type
EID3	TF binding region
ENSG00000164327	Chromatin interaction
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	chr12:104690400-104697600	Weak transcription	Lung	lung
6	chr12:104690800-104698000	Genic enhancers	Hela-S3	cervix
7	chr12:104691200-104702200	Transcr. at gene 5' and 3'	A549	lung
8	chr12:104691800-104703400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:104695800-104700800	Strong transcription	K562	blood
10	chr12:104696200-104698400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:104696600-104697800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:104696600-104698200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
13	chr12:104696600-104698400	Transcr. at gene 5' and 3'	Osteobl	bone
14	chr12:104696600-104701600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:104696800-104697600	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr12:104696800-104697600	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr12:104696800-104697600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:104696800-104697800	Active TSS	H9 Cell Line	embryonic stem cell
19	chr12:104696800-104697800	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr12:104696800-104697800	Enhancers	Fetal Heart	heart
21	chr12:104696800-104698000	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr12:104696800-104698000	Transcr. at gene 5' and 3'	HSMM	muscle
23	chr12:104696800-104698200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:104696800-104698200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr12:104696800-104698200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:104696800-104698200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:104696800-104698400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:104696800-104698400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:104696800-104698400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
30	chr12:104696800-104698400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr12:104696800-104698800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr12:104696800-104699200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:104697000-104697600	Active TSS	H1 Cell Line	embryonic stem cell
34	chr12:104697000-104697600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:104697000-104697600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:104697000-104697600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:104697000-104697600	Active TSS	Fetal Muscle Trunk	muscle
38	chr12:104697000-104697800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
39	chr12:104697000-104697800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:104697000-104697800	Active TSS	HSMMtube	muscle
41	chr12:104697000-104698000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr12:104697000-104698000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr12:104697000-104698000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:104697000-104698000	Flanking Active TSS	Brain Germinal Matrix	brain
45	chr12:104697000-104698400	Active TSS	Ovary	ovary
46	chr12:104697000-104698400	Transcr. at gene 5' and 3'	HMEC	breast
47	chr12:104697000-104698400	Transcr. at gene 5' and 3'	NHEK	skin
48	chr12:104697200-104697600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:104697200-104697600	Active TSS	Primary hematopoietic stem cells	blood
50	chr12:104697200-104697600	Active TSS	Primary T helper naive cells fromperipheralblood	blood

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