Variant report

Variant	rs10143851
Chromosome Location	chr14:105954335-105954336
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:80)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:80 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr14:105954160-105954504	HepG2	liver:	n/a	n/a
2	STAT5A	chr14:105953992-105954735	GM12878	blood:	n/a	n/a
3	POLR2A	chr14:105954309-105954632	A549	lung:	n/a	n/a
4	PML	chr14:105953293-105954352	GM12878	blood:	n/a	n/a
5	POLR2A	chr14:105953196-105954730	A549	lung:	n/a	n/a
6	SMARCB1	chr14:105953513-105954577	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr14:105954220-105954370	AG09319	gingival:	n/a	n/a
8	E2F1	chr14:105953471-105954588	Hela-S3	cervix:	n/a	n/a
9	ZNF143	chr14:105953970-105954632	Hela-S3	cervix:	n/a	n/a
10	RCOR1	chr14:105953943-105954599	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr14:105953248-105954670	GM12892	blood:	n/a	n/a
12	TCF12	chr14:105952993-105954681	A549	lung:	n/a	n/a
13	SPI1	chr14:105953573-105954383	GM12878	blood:	n/a	n/a
14	MAX	chr14:105953179-105954867	A549	lung:	n/a	n/a
15	POLR2A	chr14:105953232-105954751	HCT-116	colon:	n/a	n/a
16	POLR2A	chr14:105953327-105958531	HepG2	liver:	n/a	n/a
17	CHD2	chr14:105953252-105954610	GM12878	blood:	n/a	n/a
18	POLR2A	chr14:105954245-105954730	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr14:105953236-105954715	GM12878	blood:	n/a	n/a
20	ELF1	chr14:105952086-105954603	GM12878	blood:	n/a	n/a
21	POLR2A	chr14:105952842-105954795	HepG2	liver:	n/a	n/a
22	POLR2A	chr14:105953388-105958117	Hela-S3	cervix:	n/a	n/a
23	SPI1	chr14:105953836-105954386	HL-60	blood:	n/a	n/a
24	POLR2A	chr14:105953351-105954522	HL-60	blood:	n/a	n/a
25	HA-E2F1	chr14:105953496-105954484	Hela-S3	cervix:	n/a	n/a
26	REST	chr14:105954226-105954614	A549	lung:	n/a	n/a
27	POLR2A	chr14:105953350-105954628	GM12878	blood:	n/a	n/a
28	MAZ	chr14:105953447-105954709	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr14:105953076-105954564	GM15510	blood:	n/a	n/a
30	POLR2A	chr14:105953191-105954750	GM12878	blood:	n/a	n/a
31	HCFC1	chr14:105953299-105954892	Hela-S3	cervix:	n/a	n/a
32	SPI1	chr14:105953827-105954351	HL-60	blood:	n/a	n/a
33	POLR2A	chr14:105953216-105954642	GM12878	blood:	n/a	n/a
34	POLR2A	chr14:105953120-105954351	GM18951	blood:	n/a	n/a
35	POLR2A	chr14:105953245-105954466	GM18505	blood:	n/a	n/a
36	SMC3	chr14:105953989-105954869	Hela-S3	cervix:	n/a	n/a
37	CHD1	chr14:105953495-105954577	GM12878	blood:	n/a	n/a
38	MAX	chr14:105953873-105955186	MCF-7	breast:	n/a	n/a
39	BRCA1	chr14:105953998-105954853	Hela-S3	cervix:	n/a	n/a
40	SIN3AK20	chr14:105953211-105954506	PANC-1	pancreas:	n/a	n/a
41	TFAP2A	chr14:105953422-105954716	Hela-S3	cervix:	n/a	chr14:105954143-105954158
42	BCL3	chr14:105953997-105954689	A549	lung:	n/a	n/a
43	CTCF	chr14:105954090-105954814	HCT-116	colon:	n/a	n/a
44	POLR2A	chr14:105954317-105954693	K562	blood:	n/a	n/a
45	MAFK	chr14:105954138-105954337	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr14:105953117-105960278	Hela-S3	cervix:	n/a	n/a
47	CHD2	chr14:105953920-105954978	Hela-S3	cervix:	n/a	n/a
48	ZKSCAN1	chr14:105953596-105954609	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr14:105954316-105954501	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr14:105954323-105954686	HCT-116	colon:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:105862822..105868581-chr14:105954164..105958464,7	MCF-7	breast:
2	chr14:105950410..105961012-chr14:105989009..105997120,20	MCF-7	breast:
3	chr14:105878253..105887592-chr14:105952988..105961277,12	MCF-7	breast:
4	chr14:105952341..105954559-chr3:25726889..25729872,2	MCF-7	breast:
5	chr14:105950525..105959761-chr14:105989345..105997494,25	MCF-7	breast:
6	chr14:105486944..105489300-chr14:105953502..105956286,2	MCF-7	breast:
7	chr14:105936218..105937759-chr14:105953901..105956175,2	K562	blood:
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
ENSG00000226174	Chromatin interaction
ENSG00000251602	Chromatin interaction
ENSG00000182979	Chromatin interaction
ENSG00000257270	Chromatin interaction
ENSG00000238225	Chromatin interaction
ENSG00000184986	Chromatin interaction
ENSG00000170779	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1128308	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11845995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[EUR][1000 genomes]
rs11849001	1.00[CHB][hapmap]
rs12323571	0.88[ASW][hapmap];0.81[MKK][hapmap]
rs4983416	0.81[EUR][1000 genomes]
rs4983423	0.88[ASW][hapmap]
rs56013805	1.00[ASN][1000 genomes]
rs58219314	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58324264	1.00[ASN][1000 genomes]
rs60370249	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60837482	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7141736	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145303	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7160340	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs74092397	0.95[EUR][1000 genomes];1.00[ASN][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:105 , 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	chr14:105948000-105954400	Enhancers	Spleen	Spleen
4	chr14:105952000-105955200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:105952200-105955400	Bivalent Enhancer	Fetal Brain Male	brain
6	chr14:105952200-105956800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr14:105952400-105954400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
8	chr14:105952400-105954600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr14:105952400-105955000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
10	chr14:105952600-105954600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:105952600-105955000	Weak transcription	K562	blood
12	chr14:105952600-105955200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr14:105952600-105956800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr14:105952600-105957200	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr14:105952800-105954400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:105952800-105954400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr14:105952800-105954400	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr14:105952800-105954400	Active TSS	HSMMtube	muscle
19	chr14:105952800-105954600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:105952800-105954800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
21	chr14:105953000-105954400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:105953000-105954400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
23	chr14:105953000-105954800	Active TSS	Aorta	Aorta
24	chr14:105953000-105955600	Active TSS	Rectal Smooth Muscle	rectum
25	chr14:105953200-105954400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr14:105953200-105954400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:105953200-105954600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:105953200-105954600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
29	chr14:105953200-105954800	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr14:105953200-105955000	Active TSS	A549	lung
31	chr14:105953400-105954400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:105953400-105954400	Active TSS	Primary T cells from cord blood	blood
33	chr14:105953400-105954400	Active TSS	Psoas Muscle	Psoas
34	chr14:105953400-105954600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
35	chr14:105953400-105954600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:105953400-105954600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:105953400-105954800	Active TSS	Small Intestine	intestine
38	chr14:105953400-105954800	Active TSS	Hela-S3	cervix
39	chr14:105953400-105956200	Enhancers	Liver	Liver
40	chr14:105953600-105954400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr14:105953600-105954400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
42	chr14:105953600-105954400	Active TSS	Lung	lung
43	chr14:105953600-105954600	Active TSS	Brain Substantia Nigra	brain
44	chr14:105953600-105954800	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr14:105953600-105954800	Flanking Active TSS	Right Ventricle	heart
46	chr14:105953600-105955200	Active TSS	HSMM	muscle
47	chr14:105953600-105955200	Active TSS	NHDF-Ad	bronchial
48	chr14:105953600-105955600	Enhancers	Dnd41	blood
49	chr14:105953800-105954400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr14:105953800-105954400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland

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