Variant report

Variant	rs3803024
Chromosome Location	chr12:49391120-49391121
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr12:49391120-49392056	H1-hESC	embryonic stem cell:	n/a	n/a
2	RUNX3	chr12:49390987-49391355	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:49390875-49391395	GM12878	blood:	n/a	n/a
4	RELA	chr12:49390585-49391389	GM19193	blood:	n/a	n/a
5	MTA3	chr12:49391053-49391462	GM12878	blood:	n/a	n/a
6	YY1	chr12:49390571-49391143	GM12892	blood:	n/a	n/a
7	EGR1	chr12:49390895-49391126	GM12878	blood:	n/a	n/a
8	TCF3	chr12:49391068-49391383	GM12878	blood:	n/a	n/a
9	ZBTB7A	chr12:49390553-49391262	K562	blood:	n/a	n/a
10	PML	chr12:49390313-49391408	GM12878	blood:	n/a	n/a
11	CTCF	chr12:49391040-49391190	HFF	foreskin:	n/a	n/a
12	POLR2A	chr12:49388773-49391666	SK-N-MC	brain:	n/a	n/a
13	EGR1	chr12:49390917-49391127	GM12878	blood:	n/a	n/a
14	STAT5A	chr12:49390506-49391223	GM12878	blood:	n/a	n/a
15	ELF1	chr12:49390493-49393052	GM12878	blood:	n/a	n/a
16	BCL3	chr12:49390716-49391237	GM12878	blood:	n/a	n/a
17	CTCF	chr12:49391020-49391170	HVMF	connective:	n/a	n/a
18	CTCF	chr12:49391040-49391190	BE2_C	brain:	n/a	n/a
19	CTCF	chr12:49391020-49391170	GM12866	blood:	n/a	n/a
20	HMGN3	chr12:49390461-49391351	K562	blood:	n/a	n/a
21	POLR2A	chr12:49390639-49391784	GM12892	blood:	n/a	n/a
22	MAX	chr12:49391119-49391379	GM12878	blood:	n/a	n/a
23	MTA3	chr12:49390347-49391487	GM12878	blood:	n/a	n/a
24	CTCF	chr12:49391000-49391150	GM12865	blood:	n/a	n/a
25	BACH1	chr12:49390685-49391313	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAX	chr12:49391087-49391420	NB4	blood:	n/a	n/a
27	CTCF	chr12:49390980-49391130	NHDF-neo	bronchial:	n/a	n/a
28	EBF1	chr12:49391032-49391472	GM12878	blood:	n/a	n/a
29	TCF12	chr12:49391083-49391329	GM12878	blood:	n/a	n/a
30	MAX	chr12:49391005-49391755	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr12:49388714-49392944	A549	lung:	n/a	n/a
32	MAX	chr12:49390467-49393096	HepG2	liver:	n/a	chr12:49392711-49392720
33	MAX	chr12:49390986-49392933	H1-hESC	embryonic stem cell:	n/a	chr12:49392711-49392720
34	RUNX3	chr12:49391042-49391382	GM12878	blood:	n/a	n/a
35	POLR2A	chr12:49391020-49391203	HepG2	liver:	n/a	n/a
36	MAZ	chr12:49390556-49391261	GM12878	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49349835..49352133-chr12:49390670..49393580,2	K562	blood:
2	chr12:49391088..49392701-chr12:49397999..49400022,2	MCF-7	breast:
3	chr12:49370672..49373205-chr12:49390197..49394754,4	MCF-7	breast:
4	chr12:49390629..49391181-chr12:49412071..49412946,2	K562	blood:
5	chr12:49349915..49351718-chr12:49389253..49391123,2	MCF-7	breast:
6	chr12:49390613..49392741-chr12:49658198..49660350,2	K562	blood:
7	chr12:49389429..49391969-chr12:49402571..49406442,3	MCF-7	breast:
8	chr12:49389470..49393018-chr12:49447976..49450275,4	K562	blood:
9	chr12:49367970..49369759-chr12:49389429..49392396,2	K562	blood:
10	chr12:49374060..49376020-chr12:49389393..49391563,2	K562	blood:
11	chr12:49390072..49392510-chr12:49759241..49762093,2	K562	blood:
12	chr12:49390603..49394865-chr12:49395546..49401151,4	MCF-7	breast:
13	chr12:49388997..49391311-chr12:49485672..49487857,2	K562	blood:
14	chr12:49350460..49352797-chr12:49389222..49392992,4	MCF-7	breast:
15	chr12:49390613..49393583-chr12:49657516..49659698,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257913	TF binding region
ENSG00000125084	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000167548	Chromatin interaction
ENSG00000272822	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000181929	Chromatin interaction
ENSG00000257346	Chromatin interaction
ENSG00000134287	Chromatin interaction
ENSG00000123352	Chromatin interaction
ENSG00000200303	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12309341	1.00[MEX][hapmap]
rs34081199	1.00[MEX][hapmap]
rs833838	1.00[JPT][hapmap]

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	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
4	nsv558833	chr12:49358880-49478812	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49388200-49393600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr12:49389400-49392000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:49389800-49391800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:49389800-49392400	Weak transcription	Hela-S3	cervix
5	chr12:49390200-49391600	Bivalent Enhancer	Fetal Heart	heart
6	chr12:49390400-49391200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr12:49390400-49391400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
8	chr12:49390400-49391600	Enhancers	Placenta Amnion	Placenta Amnion
9	chr12:49390400-49391600	Flanking Bivalent TSS/Enh	Dnd41	blood
10	chr12:49390400-49392400	Active TSS	Brain Angular Gyrus	brain
11	chr12:49390400-49392600	Bivalent Enhancer	Fetal Brain Male	brain
12	chr12:49390400-49392600	Bivalent Enhancer	Fetal Lung	lung
13	chr12:49390400-49393000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
14	chr12:49390400-49393000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:49390400-49393000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
16	chr12:49390400-49393000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
17	chr12:49390600-49391200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:49390600-49391200	Active TSS	Brain Hippocampus Middle	brain
19	chr12:49390600-49391200	Active TSS	Brain Substantia Nigra	brain
20	chr12:49390600-49391200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
21	chr12:49390600-49391200	Active TSS	Right Atrium	heart
22	chr12:49390600-49391200	Bivalent/Poised TSS	Thymus	Thymus
23	chr12:49390600-49391200	Bivalent/Poised TSS	Osteobl	bone
24	chr12:49390600-49391400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:49390600-49391400	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr12:49390600-49391800	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr12:49390600-49391800	Bivalent Enhancer	Placenta	Placenta
28	chr12:49390600-49392000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
29	chr12:49390600-49392000	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
30	chr12:49390600-49392800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:49390600-49393000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:49390600-49393000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
33	chr12:49390600-49393000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:49390600-49393000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
35	chr12:49390600-49393000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
36	chr12:49390600-49393000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr12:49390600-49393000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:49390600-49393000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
39	chr12:49390600-49393000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
40	chr12:49390600-49393400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
41	chr12:49390600-49393400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
42	chr12:49390600-49393400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
43	chr12:49390600-49393800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
44	chr12:49390600-49393800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
45	chr12:49390600-49393800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
46	chr12:49390800-49391200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:49390800-49391200	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr12:49390800-49391200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:49390800-49391200	Flanking Active TSS	Esophagus	oesophagus
50	chr12:49390800-49391200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle

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