Variant report

Variant	rs4983613
Chromosome Location	chr14:105881748-105881749
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	MAX	chr14:105880781-105881916	A549	lung:	n/a	n/a
2	SIX5	chr14:105881296-105882049	A549	lung:	n/a	chr14:105881615-105881624 chr14:105881613-105881622 chr14:105881612-105881626
3	ZBTB7A	chr14:105880746-105881817	ECC-1	luminal epithelium:	n/a	n/a
4	CREB1	chr14:105881289-105881874	HepG2	liver:	n/a	n/a
5	ETS1	chr14:105881367-105881799	GM12878	blood:	n/a	chr14:105881612-105881625 chr14:105881613-105881626
6	MAX	chr14:105881271-105881754	SK-N-SH	brain:	n/a	n/a
7	MAZ	chr14:105881223-105881801	HepG2	liver:	n/a	n/a
8	TBL1XR1	chr14:105881387-105881910	K562	blood:	n/a	n/a
9	ZNF143	chr14:105881227-105881850	K562	blood:	n/a	chr14:105881613-105881622 chr14:105881362-105881380 chr14:105881615-105881624
10	MAZ	chr14:105881267-105881856	IMR90	lung:	n/a	n/a
11	POLR2A	chr14:105880613-105881880	K562	blood:	n/a	n/a
12	SIX5	chr14:105881373-105881751	K562	blood:	n/a	chr14:105881615-105881624 chr14:105881613-105881622 chr14:105881612-105881626
13	POLR2A	chr14:105880579-105882910	HepG2	liver:	n/a	n/a
14	ELF1	chr14:105881389-105881766	K562	blood:	n/a	n/a
15	YY1	chr14:105881413-105881832	ECC-1	luminal epithelium:	n/a	n/a
16	SIX5	chr14:105881419-105881825	H1-hESC	embryonic stem cell:	n/a	chr14:105881615-105881624 chr14:105881613-105881622 chr14:105881612-105881626
17	POLR2A	chr14:105881361-105881821	K562	blood:	n/a	n/a
18	POLR2A	chr14:105879052-105882017	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr14:105881232-105881872	H1-neurons	neurons:	n/a	n/a
20	MAZ	chr14:105881220-105881787	K562	blood:	n/a	n/a
21	CTCF	chr14:105881253-105881808	A549	lung:	n/a	n/a
22	CHD2	chr14:105881219-105881808	K562	blood:	n/a	n/a
23	BACH1	chr14:105881717-105881800	K562	blood:	n/a	n/a
24	CTCF	chr14:105881680-105881830	HVMF	connective:	n/a	n/a
25	POLR2A	chr14:105881306-105881827	PANC-1	pancreas:	n/a	n/a
26	MAX	chr14:105881236-105881830	HepG2	liver:	n/a	n/a
27	PML	chr14:105881422-105881859	GM12878	blood:	n/a	n/a
28	MAZ	chr14:105881223-105881784	GM12878	blood:	n/a	n/a
29	CTCF	chr14:105881176-105882122	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr14:105881388-105881797	HepG2	liver:	n/a	n/a
31	YY1	chr14:105881289-105881811	SK-N-SH_RA	brain:	n/a	chr14:105881385-105881396 chr14:105881349-105881360 chr14:105881369-105881380
32	CREB1	chr14:105881308-105881759	A549	lung:	n/a	n/a
33	TCF12	chr14:105881109-105881928	A549	lung:	n/a	n/a
34	MYC	chr14:105881267-105881778	K562	blood:	n/a	n/a
35	IRF1	chr14:105881681-105881846	K562	blood:	n/a	n/a
36	ZNF143	chr14:105880887-105881809	H1-hESC	embryonic stem cell:	n/a	chr14:105881613-105881622 chr14:105881362-105881380 chr14:105881615-105881624
37	MAX	chr14:105881239-105881831	A549	lung:	n/a	n/a
38	ETS1	chr14:105881278-105881814	K562	blood:	n/a	chr14:105881612-105881625 chr14:105881360-105881373 chr14:105881613-105881626
39	POLR2A	chr14:105881432-105881836	GM12878	blood:	n/a	n/a
40	YY1	chr14:105881226-105881757	GM12892	blood:	n/a	chr14:105881385-105881396 chr14:105881349-105881360 chr14:105881369-105881380
41	POLR2A	chr14:105881244-105881907	SK-N-SH	brain:	n/a	n/a
42	ZNF143	chr14:105881244-105881797	Hela-S3	cervix:	n/a	chr14:105881613-105881622 chr14:105881362-105881380 chr14:105881615-105881624
43	SIX5	chr14:105881383-105881777	GM12878	blood:	n/a	chr14:105881615-105881624 chr14:105881613-105881622 chr14:105881612-105881626
44	MAX	chr14:105880887-105881910	MCF-7	breast:	n/a	n/a
45	MXI1	chr14:105881714-105881832	K562	blood:	n/a	n/a
46	POLR2A	chr14:105880967-105881824	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr14:105881718-105882104	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr14:105880990-105881776	H1-hESC	embryonic stem cell:	n/a	n/a
49	ZBTB7A	chr14:105881263-105881787	ECC-1	luminal epithelium:	n/a	n/a
50	SIX5	chr14:105881370-105881759	A549	lung:	n/a	chr14:105881615-105881624 chr14:105881613-105881622 chr14:105881612-105881626

No.	Distal block	Cell Line	Cell type
1	chr14:105880098..105883003-chr14:105910883..105913200,2	K562	blood:
2	chr14:105876338..105883262-chr14:105952928..105958741,9	MCF-7	breast:
3	chr14:105865246..105867543-chr14:105880799..105882893,2	K562	blood:
4	chr14:105859207..105862401-chr14:105879269..105882995,3	K562	blood:
5	chr14:105833305..105836227-chr14:105880754..105883670,2	K562	blood:
6	chr14:105879943..105881841-chr14:105915506..105917247,2	MCF-7	breast:
7	chr14:105881282..105882070-chr6:27804848..27805770,2	NB4	blood:
8	chr14:105878253..105887592-chr14:105952988..105961277,12	MCF-7	breast:
9	chr14:105859207..105861741-chr14:105880044..105882995,2	K562	blood:
10	chr14:105878872..105884276-chr14:105939558..105943133,6	MCF-7	breast:

Variant related genes	Relation type
MTA1	TF binding region
ENSG00000256498	Chromatin interaction
ENSG00000185347	Chromatin interaction
ENSG00000182979	Chromatin interaction
ENSG00000257341	Chromatin interaction
ENSG00000182809	Chromatin interaction
ENSG00000179364	Chromatin interaction
ENSG00000213145	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10147154	1.00[ASN][1000 genomes]
rs11621365	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12435295	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28529463	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28541433	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4983614	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6576085	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6576086	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6576087	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6576088	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7149988	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73361094	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7492842	0.83[AMR][1000 genomes]
rs8014777	0.86[AFR][1000 genomes];0.85[AMR][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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105878200-105885200	Weak transcription	NHDF-Ad	bronchial
2	chr14:105880000-105882000	Enhancers	Liver	Liver
3	chr14:105880800-105881800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr14:105880800-105881800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:105880800-105881800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr14:105880800-105881800	Active TSS	Brain Anterior Caudate	brain
7	chr14:105880800-105881800	Active TSS	GM12878-XiMat	blood
8	chr14:105880800-105881800	Active TSS	Hela-S3	cervix
9	chr14:105880800-105881800	Active TSS	Osteobl	bone
10	chr14:105880800-105882000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr14:105880800-105882000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:105880800-105882000	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr14:105880800-105882000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:105880800-105882000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:105880800-105882000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:105880800-105882200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:105880800-105882200	Active TSS	Fetal Brain Female	brain
18	chr14:105880800-105882600	Enhancers	Fetal Heart	heart
19	chr14:105880800-105882600	Flanking Active TSS	Dnd41	blood
20	chr14:105881000-105881800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
21	chr14:105881000-105881800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:105881000-105881800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:105881000-105881800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr14:105881000-105881800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:105881000-105881800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
26	chr14:105881000-105881800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr14:105881000-105881800	Active TSS	Brain Substantia Nigra	brain
28	chr14:105881000-105881800	Enhancers	Lung	lung
29	chr14:105881000-105881800	Active TSS	Ovary	ovary
30	chr14:105881000-105881800	Active TSS	Rectal Smooth Muscle	rectum
31	chr14:105881000-105881800	Active TSS	A549	lung
32	chr14:105881000-105881800	Active TSS	HepG2	liver
33	chr14:105881000-105881800	Active TSS	HSMM	muscle
34	chr14:105881000-105881800	Active TSS	NHLF	lung
35	chr14:105881000-105882000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr14:105881000-105882000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr14:105881000-105882000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:105881000-105882000	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr14:105881000-105882000	Active TSS	Brain Angular Gyrus	brain
40	chr14:105881000-105882000	Active TSS	Brain Hippocampus Middle	brain
41	chr14:105881000-105882000	Enhancers	Placenta	Placenta
42	chr14:105881000-105882000	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr14:105881000-105882000	Active TSS	Thymus	Thymus
44	chr14:105881000-105882000	Active TSS	NHEK	skin
45	chr14:105881200-105881800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:105881200-105881800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr14:105881200-105881800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:105881200-105881800	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr14:105881200-105881800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr14:105881200-105881800	Active TSS	Muscle Satellite Cultured Cells	--

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