Variant report

Variant	rs2582576
Chromosome Location	chr14:105451795-105451796
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	chr14:105451677-105452531	U87	brain:	n/a	n/a
2	POLR2A	chr14:105451795-105452389	HUVEC	blood vessel:	n/a	n/a
3	SIN3AK20	chr14:105451767-105453130	MCF-7	breast:	n/a	n/a
4	POLR2A	chr14:105451517-105452253	HepG2	liver:	n/a	n/a
5	POLR2A	chr14:105451729-105452509	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr14:105451795-105452285	PFSK-1	brain:	n/a	n/a
7	ELF1	chr14:105451790-105452464	GM12878	blood:	n/a	chr14:105452039-105452051 chr14:105451989-105452001 chr14:105452090-105452103 chr14:105452094-105452103
8	POLR2A	chr14:105451779-105453430	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr14:105451777-105452347	K562	blood:	n/a	n/a
10	POLR2A	chr14:105451748-105452364	HEK293	kidney:	n/a	n/a
11	GABPA	chr14:105451693-105452853	MCF-7	breast:	n/a	chr14:105452517-105452526
12	POLR2A	chr14:105451757-105452475	HUVEC	blood vessel:	n/a	n/a
13	SP1	chr14:105451794-105452466	HCT-116	colon:	n/a	chr14:105452022-105452031 chr14:105452237-105452250 chr14:105452002-105452011
14	POLR2A	chr14:105451727-105452310	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr14:105451753-105452457	K562	blood:	n/a	n/a
16	POLR2A	chr14:105451642-105453419	Hela-S3	cervix:	n/a	n/a
17	MXI1	chr14:105451692-105453551	SK-N-SH	brain:	n/a	chr14:105453416-105453425 chr14:105452074-105452089
18	POLR2A	chr14:105451704-105452484	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr14:105451781-105452276	Raji	blood:	n/a	n/a
20	CREB1	chr14:105451792-105452548	A549	lung:	n/a	n/a
21	ELF1	chr14:105451793-105452388	GM12878	blood:	n/a	chr14:105452039-105452051 chr14:105451989-105452001 chr14:105452090-105452103 chr14:105452094-105452103
22	POLR2A	chr14:105451769-105452519	U87	brain:	n/a	n/a
23	POLR2A	chr14:105451775-105452295	GM19099	blood:	n/a	n/a
24	POLR2A	chr14:105451790-105452357	K562	blood:	n/a	n/a
25	POLR2A	chr14:105451773-105452463	ProgFib	skin:	n/a	n/a
26	POLR2A	chr14:105451777-105452327	GM15510	blood:	n/a	n/a
27	POLR2A	chr14:105451742-105452446	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr14:105451757-105452882	IMR90	lung:	n/a	n/a
29	POLR2A	chr14:105451749-105452570	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr14:105451789-105452366	NB4	blood:	n/a	n/a
31	POLR2A	chr14:105451768-105452270	PANC-1	pancreas:	n/a	n/a
32	EP300	chr14:105451785-105452444	ECC-1	luminal epithelium:	n/a	chr14:105452039-105452048

No.	Distal block	Cell Line	Cell type
1	chr14:105448840..105458160-chr14:105477229..105492100,32	MCF-7	breast:
2	chr14:105443512..105446839-chr14:105449245..105453481,5	K562	blood:
3	chr14:105451467..105455477-chr14:105455742..105459304,4	K562	blood:
4	chr14:105405873..105407482-chr14:105449150..105451992,2	MCF-7	breast:
5	chr14:105450462..105452951-chr14:105633617..105637647,3	MCF-7	breast:
6	chr14:105433937..105458439-chr14:105476653..105492775,70	MCF-7	breast:

Variant related genes	Relation type
C14orf79	TF binding region
ENSG00000140104	Chromatin interaction
ENSG00000185567	Chromatin interaction
ENSG00000170779	Chromatin interaction
ENSG00000184916	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10134401	1.00[EUR][1000 genomes]
rs10136020	1.00[EUR][1000 genomes]
rs10136468	1.00[EUR][1000 genomes]
rs10136591	1.00[EUR][1000 genomes]
rs10139800	1.00[EUR][1000 genomes]
rs11850764	1.00[EUR][1000 genomes]
rs11850814	1.00[EUR][1000 genomes]
rs1866828	1.00[EUR][1000 genomes]
rs1982232	1.00[EUR][1000 genomes]
rs2582566	1.00[EUR][1000 genomes]
rs2582571	1.00[EUR][1000 genomes]
rs2582572	1.00[EUR][1000 genomes]
rs2582573	1.00[EUR][1000 genomes]
rs2819465	1.00[EUR][1000 genomes]
rs2819466	1.00[EUR][1000 genomes]
rs28844034	1.00[EUR][1000 genomes]
rs4559849	1.00[EUR][1000 genomes]
rs56975679	1.00[EUR][1000 genomes]
rs57999316	1.00[EUR][1000 genomes]
rs60187408	1.00[EUR][1000 genomes]
rs60541549	1.00[EUR][1000 genomes]
rs61557687	1.00[EUR][1000 genomes]
rs6576070	1.00[EUR][1000 genomes]
rs7141355	1.00[EUR][1000 genomes]
rs7143587	1.00[EUR][1000 genomes]
rs73363371	1.00[EUR][1000 genomes]
rs8008799	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053591	chr14:105024558-105475931	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv542224	chr14:105024558-105475931	Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
4	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
5	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
6	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
7	nsv902419	chr14:105381763-105494262	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	nsv1049253	chr14:105384959-105471855	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv542228	chr14:105390569-105459912	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv456457	chr14:105404384-105555396	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
11	nsv566141	chr14:105404384-105555396	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
12	nsv1036224	chr14:105404755-105470333	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
13	nsv902420	chr14:105410183-105494262	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
14	nsv902421	chr14:105410183-105574843	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
15	nsv1438	chr14:105412728-105457581	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
16	nsv902422	chr14:105420215-105803170	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
17	nsv1052190	chr14:105423761-105722653	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
18	nsv902423	chr14:105430890-105803170	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
19	nsv1042303	chr14:105435649-105633544	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
20	nsv456458	chr14:105435649-105690092	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
21	nsv566150	chr14:105435649-105690092	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
22	nsv902424	chr14:105436222-105803170	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105445200-105451800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr14:105445200-105451800	Weak transcription	Right Atrium	heart
3	chr14:105445200-105452200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr14:105446000-105451800	Enhancers	Fetal Muscle Leg	muscle
5	chr14:105446800-105452600	Weak transcription	Fetal Heart	heart
6	chr14:105448600-105451800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr14:105448600-105452000	Weak transcription	Spleen	Spleen
8	chr14:105448800-105452000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:105449000-105451800	Weak transcription	Brain Angular Gyrus	brain
10	chr14:105449000-105451800	Weak transcription	Brain Substantia Nigra	brain
11	chr14:105449200-105451800	Weak transcription	A549	lung
12	chr14:105449200-105451800	Weak transcription	HSMM	muscle
13	chr14:105449400-105452000	Weak transcription	HSMMtube	muscle
14	chr14:105449600-105451800	Weak transcription	HMEC	breast
15	chr14:105449600-105451800	Weak transcription	NHEK	skin
16	chr14:105449600-105452000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:105450600-105452000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:105451000-105452400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:105451200-105451800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr14:105451200-105451800	Enhancers	Gastric	stomach
21	chr14:105451200-105451800	Enhancers	Right Ventricle	heart
22	chr14:105451200-105452200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr14:105451200-105452200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr14:105451200-105452400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr14:105451400-105451800	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr14:105451400-105451800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:105451400-105451800	Enhancers	Esophagus	oesophagus
28	chr14:105451400-105451800	Enhancers	Fetal Thymus	thymus
29	chr14:105451400-105452200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr14:105451400-105452200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr14:105451400-105452200	Active TSS	Colonic Mucosa	Colon
32	chr14:105451400-105452200	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr14:105451400-105452600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:105451400-105452600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:105451400-105452600	Active TSS	Brain Cingulate Gyrus	brain
36	chr14:105451400-105452600	Active TSS	Colon Smooth Muscle	Colon
37	chr14:105451400-105452600	Active TSS	Duodenum Mucosa	Duodenum
38	chr14:105451400-105453400	Flanking Active TSS	Dnd41	blood
39	chr14:105451600-105451800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr14:105451600-105451800	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr14:105451600-105451800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr14:105451600-105451800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr14:105451600-105451800	Flanking Active TSS	Fetal Muscle Trunk	muscle
44	chr14:105451600-105451800	Enhancers	Placenta	Placenta
45	chr14:105451600-105452200	Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr14:105451600-105452200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr14:105451600-105452200	Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr14:105451600-105452200	Active TSS	Adipose Nuclei	Adipose
49	chr14:105451600-105452200	Active TSS	Stomach Smooth Muscle	stomach
50	chr14:105451600-105452400	Active TSS	Primary monocytes fromperipheralblood	blood

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