Variant report

Variant	rs1128308
Chromosome Location	chr14:105954682-105954683
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT5A	chr14:105953992-105954735	GM12878	blood:	n/a	n/a
2	POLR2A	chr14:105953196-105954730	A549	lung:	n/a	n/a
3	YY1	chr14:105954336-105954739	A549	lung:	n/a	n/a
4	CTCF	chr14:105954426-105954698	MCF-7	breast:	n/a	n/a
5	MAX	chr14:105953179-105954867	A549	lung:	n/a	n/a
6	POLR2A	chr14:105953232-105954751	HCT-116	colon:	n/a	n/a
7	POLR2A	chr14:105953327-105958531	HepG2	liver:	n/a	n/a
8	POLR2A	chr14:105954245-105954730	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr14:105953236-105954715	GM12878	blood:	n/a	n/a
10	POLR2A	chr14:105952842-105954795	HepG2	liver:	n/a	n/a
11	POLR2A	chr14:105953388-105958117	Hela-S3	cervix:	n/a	n/a
12	MAZ	chr14:105953447-105954709	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr14:105953191-105954750	GM12878	blood:	n/a	n/a
14	RAD21	chr14:105954381-105954716	ECC-1	luminal epithelium:	n/a	n/a
15	HCFC1	chr14:105953299-105954892	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr14:105954351-105954724	MCF-7	breast:	n/a	n/a
17	SMC3	chr14:105953989-105954869	Hela-S3	cervix:	n/a	n/a
18	MAX	chr14:105953873-105955186	MCF-7	breast:	n/a	n/a
19	BRCA1	chr14:105953998-105954853	Hela-S3	cervix:	n/a	n/a
20	TFAP2A	chr14:105953422-105954716	Hela-S3	cervix:	n/a	chr14:105954143-105954158
21	BCL3	chr14:105953997-105954689	A549	lung:	n/a	n/a
22	CTCF	chr14:105954090-105954814	HCT-116	colon:	n/a	n/a
23	POLR2A	chr14:105954317-105954693	K562	blood:	n/a	n/a
24	CTCF	chr14:105954434-105954707	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr14:105953117-105960278	Hela-S3	cervix:	n/a	n/a
26	RAD21	chr14:105954382-105954739	Hela-S3	cervix:	n/a	n/a
27	CHD2	chr14:105953920-105954978	Hela-S3	cervix:	n/a	n/a
28	FOXA1	chr14:105954643-105954869	T-47D	breast:	n/a	n/a
29	POLR2A	chr14:105954323-105954686	HCT-116	colon:	n/a	n/a
30	RFX5	chr14:105953904-105954744	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr14:105953245-105955017	PANC-1	pancreas:	n/a	n/a
32	POLR2A	chr14:105953342-105958764	HepG2	liver:	n/a	n/a
33	POLR2A	chr14:105953915-105954721	ProgFib	skin:	n/a	n/a
34	MAX	chr14:105953310-105954751	A549	lung:	n/a	n/a
35	POLR2A	chr14:105953119-105958678	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr14:105954580-105954730	GM12874	blood:	n/a	n/a
37	GTF2F1	chr14:105954096-105954693	Hela-S3	cervix:	n/a	n/a
38	MTA3	chr14:105953501-105954684	GM12878	blood:	n/a	n/a
39	POLR2A	chr14:105953970-105954698	PANC-1	pancreas:	n/a	n/a
40	CTCF	chr14:105954580-105954730	A549	lung:	n/a	n/a
41	NR2F2	chr14:105953643-105958688	MCF-7	breast:	n/a	n/a
42	TFAP2C	chr14:105953346-105954739	Hela-S3	cervix:	n/a	chr14:105954715-105954730 chr14:105954143-105954158
43	POLR2A	chr14:105954022-105954726	A549	lung:	n/a	n/a
44	NR2F2	chr14:105953828-105955014	MCF-7	breast:	n/a	n/a
45	POLR2A	chr14:105954332-105954725	A549	lung:	n/a	n/a
46	CTCF	chr14:105954417-105954686	T-47D	breast:	n/a	n/a
47	POLR2A	chr14:105953151-105960167	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr14:105954392-105954693	GM12891	blood:	n/a	n/a
49	CEBPB	chr14:105954019-105954693	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr14:105954393-105954719	GM12878	blood:	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	chr14:105765913..105767563-chr14:105954548..105956473,2	MCF-7	breast:
4	chr14:105878253..105887592-chr14:105952988..105961277,12	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
C14orf80	TF binding region
ENSG00000184986	Chromatin interaction
ENSG00000257270	Chromatin interaction
ENSG00000182979	Chromatin interaction
ENSG00000251602	Chromatin interaction
ENSG00000170779	Chromatin interaction
ENSG00000226174	Chromatin interaction
ENSG00000179364	Chromatin interaction
ENSG00000185024	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10143851	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	0.81[EUR][1000 genomes]
rs56013805	1.00[ASN][1000 genomes]
rs58219314	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58324264	1.00[ASN][1000 genomes]
rs60370249	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60837482	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7141736	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145303	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs74092397	0.89[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:93 , 50 per page) page: 1 2

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	chr14:105952000-105955200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:105952200-105955400	Bivalent Enhancer	Fetal Brain Male	brain
5	chr14:105952200-105956800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr14:105952400-105955000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
7	chr14:105952600-105955000	Weak transcription	K562	blood
8	chr14:105952600-105955200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr14:105952600-105956800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr14:105952600-105957200	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr14:105952800-105954800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
12	chr14:105953000-105954800	Active TSS	Aorta	Aorta
13	chr14:105953000-105955600	Active TSS	Rectal Smooth Muscle	rectum
14	chr14:105953200-105954800	Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr14:105953200-105955000	Active TSS	A549	lung
16	chr14:105953400-105954800	Active TSS	Small Intestine	intestine
17	chr14:105953400-105954800	Active TSS	Hela-S3	cervix
18	chr14:105953400-105956200	Enhancers	Liver	Liver
19	chr14:105953600-105954800	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr14:105953600-105954800	Flanking Active TSS	Right Ventricle	heart
21	chr14:105953600-105955200	Active TSS	HSMM	muscle
22	chr14:105953600-105955200	Active TSS	NHDF-Ad	bronchial
23	chr14:105953600-105955600	Enhancers	Dnd41	blood
24	chr14:105953800-105955600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:105953800-105956200	Weak transcription	Ovary	ovary
26	chr14:105954000-105954800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr14:105954000-105955000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:105954000-105955000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:105954000-105955000	Bivalent/Poised TSS	Fetal Stomach	stomach
30	chr14:105954000-105955200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr14:105954000-105956000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
32	chr14:105954000-105956400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr14:105954200-105954800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr14:105954200-105954800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr14:105954200-105955000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
36	chr14:105954200-105955000	Flanking Active TSS	Esophagus	oesophagus
37	chr14:105954200-105955000	Bivalent Enhancer	Fetal Lung	lung
38	chr14:105954200-105955600	Weak transcription	HMEC	breast
39	chr14:105954200-105956000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:105954200-105956000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr14:105954200-105956000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr14:105954200-105956000	Flanking Active TSS	HepG2	liver
43	chr14:105954200-105956200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr14:105954200-105956400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
45	chr14:105954200-105956400	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr14:105954200-105956400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr14:105954400-105954800	Enhancers	Fetal Heart	heart
48	chr14:105954400-105954800	Flanking Active TSS	Fetal Thymus	thymus
49	chr14:105954400-105955000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr14:105954400-105955000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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