Variant report

Variant	rs4983614
Chromosome Location	chr14:105885987-105885988
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	POLR2A	chr14:105885846-105886428	MCF-7	breast:	n/a	n/a
2	MAX	chr14:105885486-105886122	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr14:105885486-105886410	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr14:105885850-105886463	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr14:105885932-105886435	A549	lung:	n/a	n/a
6	MYC	chr14:105885514-105886323	K562	blood:	n/a	n/a
7	YY1	chr14:105885849-105886422	GM12878	blood:	n/a	chr14:105886118-105886127 chr14:105886112-105886126 chr14:105886121-105886130 chr14:105886299-105886311
8	MAX	chr14:105885459-105886302	A549	lung:	n/a	n/a
9	E2F1	chr14:105885899-105886395	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr14:105885920-105886070	GM12873	blood:	n/a	n/a
11	MXI1	chr14:105885836-105886178	GM12878	blood:	n/a	n/a
12	POLR2A	chr14:105885935-105886204	K562	blood:	n/a	n/a
13	TCF12	chr14:105885666-105886104	A549	lung:	n/a	n/a
14	YY1	chr14:105885961-105886533	K562	blood:	n/a	chr14:105886118-105886127 chr14:105886112-105886126 chr14:105886121-105886130 chr14:105886299-105886311
15	POLR2A	chr14:105885362-105886105	HepG2	liver:	n/a	n/a
16	E2F6	chr14:105885586-105886243	K562	blood:	n/a	n/a
17	POLR2A	chr14:105885941-105886179	SK-N-SH	brain:	n/a	n/a
18	HA-E2F1	chr14:105885715-105886186	MCF-7	breast:	n/a	n/a
19	POLR2A	chr14:105885484-105886167	HepG2	liver:	n/a	n/a
20	YY1	chr14:105885857-105886621	GM12892	blood:	n/a	chr14:105886118-105886127 chr14:105886112-105886126 chr14:105886121-105886130 chr14:105886299-105886311
21	ELF1	chr14:105885970-105886191	K562	blood:	n/a	chr14:105886112-105886124 chr14:105886118-105886127
22	HDAC2	chr14:105885889-105886161	HepG2	liver:	n/a	n/a
23	POLR2A	chr14:105884655-105886439	HepG2	liver:	n/a	n/a
24	POLR2A	chr14:105885598-105886359	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr14:105885799-105886196	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr14:105885615-105886516	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr14:105885906-105886413	K562	blood:	n/a	n/a
28	POLR2A	chr14:105885782-105886439	GM18526	blood:	n/a	n/a
29	HEY1	chr14:105885524-105886108	HepG2	liver:	n/a	n/a
30	POLR2A	chr14:105885590-105886432	GM12878	blood:	n/a	n/a
31	MAZ	chr14:105885135-105888080	IMR90	lung:	n/a	chr14:105886729-105886742 chr14:105887563-105887573 chr14:105886732-105886739 chr14:105886731-105886740 chr14:105886730-105886741 chr14:105886729-105886742 chr14:105886731-105886740 chr14:105886731-105886741 chr14:105887665-105887675 chr14:105886730-105886740 chr14:105886730-105886741 chr14:105886729-105886742 chr14:105886729-105886744
32	MAZ	chr14:105885661-105886338	GM12878	blood:	n/a	n/a
33	HEY1	chr14:105885907-105886174	K562	blood:	n/a	n/a
34	POLR2A	chr14:105885766-105886451	GM18951	blood:	n/a	n/a
35	POLR2A	chr14:105885886-105886649	HEK293	kidney:	n/a	n/a
36	STAT5A	chr14:105885560-105886006	GM12878	blood:	n/a	n/a
37	POLR2A	chr14:105885705-105886426	GM12878	blood:	n/a	n/a
38	POLR2A	chr14:105885305-105886208	HepG2	liver:	n/a	n/a
39	MTA3	chr14:105885256-105886097	GM12878	blood:	n/a	n/a
40	ZBTB7A	chr14:105885696-105886158	K562	blood:	n/a	n/a
41	BHLHE40	chr14:105885853-105886297	GM12878	blood:	n/a	n/a
42	MAZ	chr14:105885821-105886295	K562	blood:	n/a	n/a
43	TAF1	chr14:105885775-105886361	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr14:105885915-105886283	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr14:105885485-105886101	HepG2	liver:	n/a	n/a
46	POLR2A	chr14:105885795-105886050	K562	blood:	n/a	n/a
47	POLR2A	chr14:105885921-105886198	GM12878	blood:	n/a	n/a
48	POLR2A	chr14:105885321-105886368	K562	blood:	n/a	n/a
49	HCFC1	chr14:105885931-105886122	K562	blood:	n/a	n/a
50	POLR2A	chr14:105885963-105886442	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:105885936..105886629-chr19:47633950..47634638,2	Hela-S3	cervix:
2	chr14:105884344..105887645-chr14:105955564..105958862,3	K562	blood:
3	chr14:105861905..105865753-chr14:105884230..105887422,5	K562	blood:
4	chr14:105885358..105889451-chr14:105901895..105905959,5	MCF-7	breast:
5	chr14:105884242..105887668-chr14:105902479..105906192,4	MCF-7	breast:
6	chr14:105884288..105888783-chr14:105938542..105943341,7	MCF-7	breast:
7	chr14:105884903..105887954-chr14:105938531..105942020,5	MCF-7	breast:
8	chr14:105884877..105886585-chr14:105944248..105945833,2	K562	blood:
9	chr14:105885814..105887467-chr17:62501154..62503346,2	MCF-7	breast:
10	chr14:105878253..105887592-chr14:105952988..105961277,12	MCF-7	breast:
11	chr14:105885522..105887856-chr14:105940079..105941769,2	K562	blood:

Variant related genes	Relation type
MTA1	TF binding region
ENSG00000258890	Chromatin interaction
ENSG00000185347	Chromatin interaction
ENSG00000213145	Chromatin interaction
ENSG00000226174	Chromatin interaction
ENSG00000182979	Chromatin interaction
ENSG00000108654	Chromatin interaction
ENSG00000256498	Chromatin interaction
ENSG00000142230	Chromatin interaction
ENSG00000182809	Chromatin interaction
ENSG00000257341	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10147154	1.00[CHD][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs11621365	0.94[ASW][hapmap];1.00[CHD][hapmap];0.92[LWK][hapmap];0.98[MKK][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11845995	1.00[CHD][hapmap]
rs12435295	0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.83[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]
rs4074001	1.00[CHD][hapmap]
rs4983407	1.00[CHD][hapmap]
rs4983414	1.00[CHD][hapmap]
rs4983418	1.00[CHD][hapmap]
rs4983613	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6576085	1.00[ASN][1000 genomes]
rs6576086	1.00[ASN][1000 genomes]
rs6576087	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6576088	0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6576099	1.00[CHD][hapmap]
rs7149988	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7153174	1.00[CHD][hapmap]
rs7161158	1.00[CHD][hapmap]
rs73361094	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7492842	0.83[AMR][1000 genomes]
rs8005552	1.00[CHD][hapmap]
rs8014777	1.00[ASN][1000 genomes]
rs9743822	1.00[CHD][hapmap];0.87[MKK][hapmap]

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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105884400-105886000	Flanking Active TSS	Duodenum Mucosa	Duodenum
2	chr14:105884600-105886000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:105884800-105886000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:105884800-105886000	Flanking Active TSS	Brain Germinal Matrix	brain
5	chr14:105884800-105886000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr14:105884800-105886000	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr14:105884800-105886200	Enhancers	Fetal Brain Male	brain
8	chr14:105885000-105886000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:105885000-105886000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:105885000-105886000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:105885000-105886000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
12	chr14:105885000-105886000	Flanking Active TSS	Fetal Brain Female	brain
13	chr14:105885200-105886000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:105885200-105886000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:105885200-105886000	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr14:105885200-105886000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:105885200-105886000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr14:105885200-105886000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr14:105885200-105886000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:105885200-105886000	Flanking Active TSS	Colonic Mucosa	Colon
21	chr14:105885200-105886000	Flanking Active TSS	Fetal Muscle Trunk	muscle
22	chr14:105885200-105886000	Flanking Active TSS	Fetal Muscle Leg	muscle
23	chr14:105885200-105886000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr14:105885200-105886000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr14:105885200-105886000	Transcr. at gene 5' and 3'	Dnd41	blood
26	chr14:105885200-105886000	Flanking Active TSS	NHLF	lung
27	chr14:105885200-105886000	Flanking Active TSS	Osteobl	bone
28	chr14:105885200-105887000	Active TSS	Brain Anterior Caudate	brain
29	chr14:105885200-105888000	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr14:105885200-105888200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:105885400-105886000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
32	chr14:105885400-105886000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:105885400-105886000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr14:105885400-105886000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr14:105885400-105886000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr14:105885400-105886000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr14:105885400-105886000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr14:105885400-105886000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr14:105885400-105886000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:105885400-105886000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:105885400-105886000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:105885400-105886000	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr14:105885400-105886000	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr14:105885400-105886000	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr14:105885400-105886000	Flanking Active TSS	Esophagus	oesophagus
46	chr14:105885400-105886000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr14:105885400-105886000	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr14:105885400-105886000	Flanking Active TSS	Fetal Lung	lung
49	chr14:105885400-105886000	Flanking Active TSS	Placenta	Placenta
50	chr14:105885400-105886000	Flanking Active TSS	Fetal Stomach	stomach

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