Variant report

Variant	rs2582575
Chromosome Location	chr14:105451832-105451833
allele	A/G
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	chr14:105451800-105452426	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr14:105451677-105452531	U87	brain:	n/a	n/a
3	POLR2A	chr14:105451795-105452389	HUVEC	blood vessel:	n/a	n/a
4	EGR1	chr14:105451815-105452853	MCF-7	breast:	n/a	chr14:105452528-105452538 chr14:105451986-105451999 chr14:105452526-105452539 chr14:105452527-105452538 chr14:105452527-105452538 chr14:105452526-105452540 chr14:105452528-105452538 chr14:105452222-105452246
5	SIN3AK20	chr14:105451767-105453130	MCF-7	breast:	n/a	n/a
6	MAZ	chr14:105451818-105453561	IMR90	lung:	n/a	chr14:105452596-105452603 chr14:105452595-105452604 chr14:105453280-105453290 chr14:105452595-105452605 chr14:105452310-105452319 chr14:105452591-105452606 chr14:105452594-105452605
7	POLR2A	chr14:105451824-105452346	K562	blood:	n/a	n/a
8	POLR2A	chr14:105451798-105452344	GM12878	blood:	n/a	n/a
9	PAX5	chr14:105451805-105452331	GM12878	blood:	n/a	chr14:105451923-105451950
10	POLR2A	chr14:105451517-105452253	HepG2	liver:	n/a	n/a
11	POLR2A	chr14:105451729-105452509	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr14:105451813-105452054	HepG2	liver:	n/a	n/a
13	MAX	chr14:105451810-105453092	A549	lung:	n/a	chr14:105452596-105452603 chr14:105452595-105452604 chr14:105452595-105452605 chr14:105452310-105452319 chr14:105452591-105452606 chr14:105452594-105452605
14	POLR2A	chr14:105451795-105452285	PFSK-1	brain:	n/a	n/a
15	HEY1	chr14:105451825-105452323	K562	blood:	n/a	chr14:105452193-105452208
16	ELF1	chr14:105451790-105452464	GM12878	blood:	n/a	chr14:105452039-105452051 chr14:105451989-105452001 chr14:105452090-105452103 chr14:105452094-105452103
17	CREB1	chr14:105451831-105452359	K562	blood:	n/a	n/a
18	POLR2A	chr14:105451779-105453430	Hela-S3	cervix:	n/a	n/a
19	HEY1	chr14:105451809-105452242	HepG2	liver:	n/a	chr14:105452193-105452208
20	GABPA	chr14:105451814-105452465	MCF-7	breast:	n/a	n/a
21	GABPA	chr14:105451813-105452373	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr14:105451777-105452347	K562	blood:	n/a	n/a
23	EGR1	chr14:105451825-105452707	HCT-116	colon:	n/a	chr14:105452528-105452538 chr14:105451986-105451999 chr14:105452526-105452539 chr14:105452527-105452538 chr14:105452527-105452538 chr14:105452526-105452540 chr14:105452528-105452538 chr14:105452222-105452246
24	MAX	chr14:105451820-105452966	MCF-7	breast:	n/a	chr14:105452596-105452603 chr14:105452595-105452604 chr14:105452595-105452605 chr14:105452310-105452319 chr14:105452591-105452606 chr14:105452594-105452605
25	SP1	chr14:105451811-105452238	GM12878	blood:	n/a	chr14:105452022-105452031 chr14:105452002-105452011
26	POLR2A	chr14:105451748-105452364	HEK293	kidney:	n/a	n/a
27	GABPA	chr14:105451693-105452853	MCF-7	breast:	n/a	chr14:105452517-105452526
28	POLR2A	chr14:105451757-105452475	HUVEC	blood vessel:	n/a	n/a
29	SP1	chr14:105451794-105452466	HCT-116	colon:	n/a	chr14:105452022-105452031 chr14:105452237-105452250 chr14:105452002-105452011
30	POLR2A	chr14:105451797-105452334	GM18951	blood:	n/a	n/a
31	POLR2A	chr14:105451727-105452310	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr14:105451812-105452651	HCT-116	colon:	n/a	n/a
33	GABPA	chr14:105451827-105452400	A549	lung:	n/a	n/a
34	POLR2A	chr14:105451753-105452457	K562	blood:	n/a	n/a
35	POLR2A	chr14:105451812-105452415	HCT-116	colon:	n/a	n/a
36	EGR1	chr14:105451828-105452576	ECC-1	luminal epithelium:	n/a	chr14:105452528-105452538 chr14:105451986-105451999 chr14:105452526-105452539 chr14:105452527-105452538 chr14:105452527-105452538 chr14:105452526-105452540 chr14:105452528-105452538 chr14:105452222-105452246
37	ELF1	chr14:105451815-105452821	MCF-7	breast:	n/a	chr14:105452039-105452051 chr14:105451989-105452001 chr14:105452090-105452103 chr14:105452094-105452103
38	POLR2A	chr14:105451805-105452469	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr14:105451830-105452418	Hela-S3	cervix:	n/a	n/a
40	CREB1	chr14:105451810-105452434	HepG2	liver:	n/a	n/a
41	POLR2A	chr14:105451822-105452332	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chr14:105451642-105453419	Hela-S3	cervix:	n/a	n/a
43	MXI1	chr14:105451692-105453551	SK-N-SH	brain:	n/a	chr14:105453416-105453425 chr14:105452074-105452089
44	POLR2A	chr14:105451704-105452484	SK-N-MC	brain:	n/a	n/a
45	POLR2A	chr14:105451811-105452390	U87	brain:	n/a	n/a
46	NRF1	chr14:105451800-105452306	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr14:105451781-105452276	Raji	blood:	n/a	n/a
48	POLR2A	chr14:105451813-105453010	MCF-7	breast:	n/a	n/a
49	POLR2A	chr14:105451813-105452389	MCF-7	breast:	n/a	n/a
50	CREB1	chr14:105451792-105452548	A549	lung:	n/a	n/a

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
ENSG00000184916	Chromatin interaction
ENSG00000170779	Chromatin interaction
ENSG00000140104	Chromatin interaction
ENSG00000185567	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12883995	0.94[EUR][1000 genomes]
rs12884027	0.81[EUR][1000 genomes]
rs2033932	0.92[EUR][1000 genomes]
rs2582574	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2582577	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2819457	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34995109	0.92[EUR][1000 genomes]
rs35689208	0.92[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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2582575	C14orf79	cis	Artery Tibial	GTEx
rs2582575	C14orf79	cis	Esophagus Mucosa	GTEx
rs2582575	C14orf79	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105445200-105452200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr14:105446800-105452600	Weak transcription	Fetal Heart	heart
3	chr14:105448600-105452000	Weak transcription	Spleen	Spleen
4	chr14:105448800-105452000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:105449400-105452000	Weak transcription	HSMMtube	muscle
6	chr14:105449600-105452000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:105450600-105452000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:105451000-105452400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:105451200-105452200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr14:105451200-105452200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:105451200-105452400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr14:105451400-105452200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:105451400-105452200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr14:105451400-105452200	Active TSS	Colonic Mucosa	Colon
15	chr14:105451400-105452200	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr14:105451400-105452600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:105451400-105452600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:105451400-105452600	Active TSS	Brain Cingulate Gyrus	brain
19	chr14:105451400-105452600	Active TSS	Colon Smooth Muscle	Colon
20	chr14:105451400-105452600	Active TSS	Duodenum Mucosa	Duodenum
21	chr14:105451400-105453400	Flanking Active TSS	Dnd41	blood
22	chr14:105451600-105452200	Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr14:105451600-105452200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:105451600-105452200	Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr14:105451600-105452200	Active TSS	Adipose Nuclei	Adipose
26	chr14:105451600-105452200	Active TSS	Stomach Smooth Muscle	stomach
27	chr14:105451600-105452400	Active TSS	Primary monocytes fromperipheralblood	blood
28	chr14:105451600-105452400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr14:105451600-105452400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr14:105451600-105452400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:105451600-105452400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr14:105451600-105452400	Active TSS	Brain Germinal Matrix	brain
33	chr14:105451600-105452400	Active TSS	Brain Hippocampus Middle	brain
34	chr14:105451600-105452400	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr14:105451600-105452400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr14:105451600-105452400	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr14:105451600-105452400	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr14:105451600-105452400	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr14:105451600-105452400	Active TSS	Thymus	Thymus
40	chr14:105451600-105452600	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr14:105451600-105452600	Active TSS	Fetal Brain Female	brain
42	chr14:105451600-105452600	Active TSS	Fetal Intestine Large	intestine
43	chr14:105451600-105452600	Active TSS	Fetal Intestine Small	intestine
44	chr14:105451600-105452600	Active TSS	Fetal Stomach	stomach
45	chr14:105451600-105452600	Active TSS	Pancreas	Pancrea
46	chr14:105451600-105452600	Active TSS	Rectal Smooth Muscle	rectum
47	chr14:105451600-105452600	Active TSS	Hela-S3	cervix
48	chr14:105451600-105452600	Active TSS	HepG2	liver
49	chr14:105451600-105452800	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr14:105451600-105452800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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