Variant report

Variant	rs12879031
Chromosome Location	chr14:105954026-105954027
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:94)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:94 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ETS1	chr14:105953938-105954323	A549	lung:	n/a	n/a
2	POLR2A	chr14:105954006-105954035	MCF10A-Er-Src	breast:	n/a	n/a
3	MAX	chr14:105953244-105954298	GM12878	blood:	n/a	n/a
4	JUND	chr14:105953340-105954053	A549	lung:	n/a	n/a
5	POLR2A	chr14:105953996-105954246	A549	lung:	n/a	n/a
6	BHLHE40	chr14:105953226-105954274	GM12878	blood:	n/a	n/a
7	RUNX3	chr14:105953873-105954334	GM12878	blood:	n/a	n/a
8	EBF1	chr14:105953910-105954202	GM12878	blood:	n/a	n/a
9	STAT5A	chr14:105953992-105954735	GM12878	blood:	n/a	n/a
10	PML	chr14:105953293-105954352	GM12878	blood:	n/a	n/a
11	PAX5	chr14:105953940-105954163	GM12878	blood:	n/a	n/a
12	SPI1	chr14:105953870-105954238	GM12891	blood:	n/a	n/a
13	POLR2A	chr14:105953196-105954730	A549	lung:	n/a	n/a
14	SMARCB1	chr14:105953513-105954577	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr14:105953206-105954312	GM19099	blood:	n/a	n/a
16	E2F1	chr14:105953471-105954588	Hela-S3	cervix:	n/a	n/a
17	SPI1	chr14:105953873-105954197	GM12878	blood:	n/a	n/a
18	POLR2A	chr14:105953343-105954314	HCT-116	colon:	n/a	n/a
19	ZNF143	chr14:105953970-105954632	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr14:105953392-105954059	GM10847	blood:	n/a	n/a
21	RCOR1	chr14:105953943-105954599	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr14:105953248-105954670	GM12892	blood:	n/a	n/a
23	TCF12	chr14:105952993-105954681	A549	lung:	n/a	n/a
24	SPI1	chr14:105953573-105954383	GM12878	blood:	n/a	n/a
25	MAX	chr14:105953179-105954867	A549	lung:	n/a	n/a
26	POLR2A	chr14:105953258-105954243	GM18526	blood:	n/a	n/a
27	POLR2A	chr14:105953232-105954751	HCT-116	colon:	n/a	n/a
28	POLR2A	chr14:105953327-105958531	HepG2	liver:	n/a	n/a
29	CHD2	chr14:105953252-105954610	GM12878	blood:	n/a	n/a
30	POLR2A	chr14:105953236-105954715	GM12878	blood:	n/a	n/a
31	TCF3	chr14:105953447-105954266	GM12878	blood:	n/a	n/a
32	ELF1	chr14:105952086-105954603	GM12878	blood:	n/a	n/a
33	STAT1	chr14:105953933-105954211	GM12878	blood:	n/a	n/a
34	POLR2A	chr14:105952842-105954795	HepG2	liver:	n/a	n/a
35	POLR2A	chr14:105953388-105958117	Hela-S3	cervix:	n/a	n/a
36	SPI1	chr14:105953836-105954386	HL-60	blood:	n/a	n/a
37	POLR2A	chr14:105953351-105954522	HL-60	blood:	n/a	n/a
38	SPI1	chr14:105953858-105954191	GM12891	blood:	n/a	n/a
39	HA-E2F1	chr14:105953496-105954484	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr14:105953350-105954628	GM12878	blood:	n/a	n/a
41	MAZ	chr14:105953447-105954709	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr14:105953076-105954564	GM15510	blood:	n/a	n/a
43	POLR2A	chr14:105953191-105954750	GM12878	blood:	n/a	n/a
44	PAX5	chr14:105953892-105954148	GM12892	blood:	n/a	n/a
45	POLR2A	chr14:105953413-105954256	GM12878	blood:	n/a	n/a
46	HCFC1	chr14:105953299-105954892	Hela-S3	cervix:	n/a	n/a
47	SPI1	chr14:105953827-105954351	HL-60	blood:	n/a	n/a
48	POLR2A	chr14:105953216-105954642	GM12878	blood:	n/a	n/a
49	POLR2A	chr14:105953120-105954351	GM18951	blood:	n/a	n/a
50	SPI1	chr14:105953943-105954204	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105950410..105961012-chr14:105989009..105997120,20	MCF-7	breast:
2	chr14:105878253..105887592-chr14:105952988..105961277,12	MCF-7	breast:
3	chr14:105952341..105954559-chr3:25726889..25729872,2	MCF-7	breast:
4	chr14:105950525..105959761-chr14:105989345..105997494,25	MCF-7	breast:
5	chr14:105486944..105489300-chr14:105953502..105956286,2	MCF-7	breast:
6	chr14:105936218..105937759-chr14:105953901..105956175,2	K562	blood:
7	chr12:120729250..120729823-chr14:105953213..105954129,2	Hela-S3	cervix:
8	chr14:105886174..105888891-chr14:105953847..105956104,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CRIP1-1	chr14:105953534-105954853	NONHSAT040361

No data

Variant related genes	Relation type
ENSG00000257341	TF binding region
C14orf80	TF binding region
CRIP1	TF binding region
ENSG00000202538	Chromatin interaction
ENSG00000170779	Chromatin interaction
ENSG00000182979	Chromatin interaction
ENSG00000257270	Chromatin interaction
ENSG00000238225	Chromatin interaction
ENSG00000184986	Chromatin interaction
ENSG00000251602	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs59732071	0.80[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105946800-105955200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:105947000-105955200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:105948000-105954200	Enhancers	Fetal Heart	heart
4	chr14:105948000-105954400	Enhancers	Spleen	Spleen
5	chr14:105952000-105955200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:105952200-105955400	Bivalent Enhancer	Fetal Brain Male	brain
7	chr14:105952200-105956800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr14:105952400-105954200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr14:105952400-105954200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:105952400-105954200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:105952400-105954400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
12	chr14:105952400-105954600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:105952400-105955000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
14	chr14:105952600-105954200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr14:105952600-105954200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr14:105952600-105954600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:105952600-105955000	Weak transcription	K562	blood
18	chr14:105952600-105955200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr14:105952600-105956800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr14:105952600-105957200	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr14:105952800-105954200	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr14:105952800-105954200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
23	chr14:105952800-105954200	Active TSS	HepG2	liver
24	chr14:105952800-105954400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:105952800-105954400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr14:105952800-105954400	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr14:105952800-105954400	Active TSS	HSMMtube	muscle
28	chr14:105952800-105954600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr14:105952800-105954800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
30	chr14:105953000-105954200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:105953000-105954200	Active TSS	Right Atrium	heart
32	chr14:105953000-105954400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:105953000-105954400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
34	chr14:105953000-105954800	Active TSS	Aorta	Aorta
35	chr14:105953000-105955600	Active TSS	Rectal Smooth Muscle	rectum
36	chr14:105953200-105954200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:105953200-105954200	Active TSS	Duodenum Mucosa	Duodenum
38	chr14:105953200-105954200	Active TSS	Left Ventricle	heart
39	chr14:105953200-105954400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr14:105953200-105954400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:105953200-105954600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:105953200-105954600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
43	chr14:105953200-105954800	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr14:105953200-105955000	Active TSS	A549	lung
45	chr14:105953400-105954200	Active TSS	Primary B cells from peripheral blood	blood
46	chr14:105953400-105954200	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr14:105953400-105954200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr14:105953400-105954200	Active TSS	Esophagus	oesophagus
49	chr14:105953400-105954200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
50	chr14:105953400-105954200	Flanking Active TSS	Pancreas	Pancrea

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