Variant report

Variant	rs35595126
Chromosome Location	chr14:65226044-65226045
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	MAZ	chr14:65224431-65226235	IMR90	lung:	n/a	n/a
2	RCOR1	chr14:65225328-65226075	Hela-S3	cervix:	n/a	n/a
3	BCL3	chr14:65225361-65226330	A549	lung:	n/a	chr14:65225667-65225674
4	EP300	chr14:65225668-65226204	ECC-1	luminal epithelium:	n/a	n/a
5	NR2F2	chr14:65225285-65226174	MCF-7	breast:	n/a	n/a
6	POLR2A	chr14:65223340-65227915	A549	lung:	n/a	n/a
7	TFAP2C	chr14:65224881-65226062	Hela-S3	cervix:	n/a	chr14:65225154-65225169 chr14:65225117-65225132
8	RCOR1	chr14:65224449-65226056	IMR90	lung:	n/a	n/a
9	TCF12	chr14:65225652-65226440	ECC-1	luminal epithelium:	n/a	n/a
10	CEBPB	chr14:65225358-65226069	Hela-S3	cervix:	n/a	chr14:65225567-65225584
11	GATA2	chr14:65224773-65226133	SH-SY5Y	brain:	n/a	chr14:65225663-65225673 chr14:65225580-65225601 chr14:65225585-65225595 chr14:65225582-65225598 chr14:65225076-65225086 chr14:65225587-65225594 chr14:65225585-65225594 chr14:65225587-65225597
12	MAX	chr14:65224637-65226446	A549	lung:	n/a	n/a
13	POLR2A	chr14:65225727-65226288	ECC-1	luminal epithelium:	n/a	n/a
14	NFIC	chr14:65225315-65226382	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr14:65225505-65226836	K562	blood:	n/a	n/a
16	NFIC	chr14:65225249-65226442	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr14:65225390-65227383	ECC-1	luminal epithelium:	n/a	n/a
18	GATA3	chr14:65225088-65226080	MCF-7	breast:	n/a	chr14:65225663-65225673 chr14:65225580-65225601 chr14:65225585-65225595 chr14:65225582-65225598 chr14:65225587-65225594 chr14:65225585-65225594 chr14:65225587-65225597 chr14:65225586-65225594
19	CTCF	chr14:65225940-65226090	HUVEC	blood vessel:	n/a	chr14:65226022-65226030
20	FOSL2	chr14:65225247-65226074	A549	lung:	n/a	n/a
21	CTCF	chr14:65225900-65226050	BJ	skin:	n/a	chr14:65226022-65226030
22	CHD2	chr14:65225407-65226083	Hela-S3	cervix:	n/a	chr14:65225500-65225510
23	POLR2A	chr14:65225880-65226419	Hela-S3	cervix:	n/a	n/a
24	TCF12	chr14:65225136-65226195	SK-N-SH	brain:	n/a	n/a
25	TCF12	chr14:65225127-65226244	SK-N-SH	brain:	n/a	n/a
26	ESR1	chr14:65225809-65226201	ECC-1	luminal epithelium:	n/a	n/a
27	MAX	chr14:65225380-65226182	Hela-S3	cervix:	n/a	n/a
28	TCF12	chr14:65225603-65226278	ECC-1	luminal epithelium:	n/a	n/a
29	TCF12	chr14:65224247-65226291	A549	lung:	n/a	chr14:65224715-65224723 chr14:65224680-65224687
30	SP1	chr14:65225207-65226235	A549	lung:	n/a	chr14:65225500-65225514 chr14:65225679-65225688 chr14:65225675-65225689 chr14:65225509-65225519 chr14:65225679-65225689
31	GATA3	chr14:65225131-65226224	SK-N-SH	brain:	n/a	chr14:65225663-65225673 chr14:65225580-65225601 chr14:65225585-65225595 chr14:65225582-65225598 chr14:65225587-65225594 chr14:65225585-65225594 chr14:65225587-65225597 chr14:65225586-65225594
32	GATA3	chr14:65225163-65226272	A549	lung:	n/a	chr14:65225663-65225673 chr14:65225580-65225601 chr14:65225585-65225595 chr14:65225582-65225598 chr14:65225587-65225594 chr14:65225585-65225594 chr14:65225587-65225597 chr14:65225586-65225594
33	NFIC	chr14:65225218-65226356	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr14:65225694-65230256	PBDE	blood:	n/a	n/a
35	POLR2A	chr14:65225822-65226316	K562	blood:	n/a	n/a
36	MAZ	chr14:65225387-65226164	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:65221170..65226335-chr14:65227109..65232798,8	MCF-7	breast:
2	chr14:65221754..65224456-chr14:65224645..65226925,4	MCF-7	breast:
3	chr14:64970264..64972262-chr14:65225549..65227652,2	MCF-7	breast:
4	chr14:65211034..65213398-chr14:65224947..65227987,3	MCF-7	breast:
5	chr14:65005458..65007740-chr14:65223841..65226148,2	MCF-7	breast:
6	chr14:65182239..65187467-chr14:65224192..65227180,5	MCF-7	breast:
7	chr14:65222459..65224362-chr14:65225057..65226604,2	K562	blood:
8	chr14:65192290..65195649-chr14:65222693..65231374,9	MCF-7	breast:
9	chr14:65168373..65176902-chr14:65220182..65231670,21	MCF-7	breast:
10	chr14:65168335..65178043-chr14:65220677..65234710,31	MCF-7	breast:
11	chr14:65225623..65228058-chr14:65230939..65232636,2	K562	blood:
12	chr14:65224784..65227123-chr14:65229668..65232515,3	K562	blood:
13	chr14:65219332..65221350-chr14:65225849..65228107,2	K562	blood:

Variant related genes	Relation type
SPTB	TF binding region
ENSG00000126803	Chromatin interaction
ENSG00000126822	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000070182	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000259116	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs57066030	1.00[ASN][1000 genomes]
rs7141792	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1035833	chr14:65176371-65246181	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	esv1801406	chr14:65193725-65264416	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
4	nsv902023	chr14:65200821-65243885	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv902024	chr14:65200821-65244950	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65211200-65228800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:65215200-65232400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:65219400-65230000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:65219800-65228600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:65220600-65232200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:65220800-65233000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:65221200-65228800	Enhancers	HMEC	breast
8	chr14:65221200-65231600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr14:65221200-65231600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:65221400-65229800	Enhancers	Pancreas	Pancrea
11	chr14:65221400-65230000	Enhancers	Fetal Intestine Small	intestine
12	chr14:65221400-65231600	Enhancers	Spleen	Spleen
13	chr14:65221400-65232600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:65221600-65227800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr14:65221600-65232400	Enhancers	Fetal Intestine Large	intestine
16	chr14:65221800-65227400	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr14:65221800-65232200	Enhancers	Placenta Amnion	Placenta Amnion
18	chr14:65222000-65229200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr14:65222200-65226800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:65222200-65227200	Enhancers	NH-A	brain
21	chr14:65222200-65229600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr14:65222200-65231600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr14:65222400-65226200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr14:65222400-65226800	Enhancers	Esophagus	oesophagus
25	chr14:65222400-65227200	Enhancers	Placenta	Placenta
26	chr14:65222400-65230000	Enhancers	Stomach Mucosa	stomach
27	chr14:65222600-65228800	Enhancers	Duodenum Mucosa	Duodenum
28	chr14:65222600-65231600	Enhancers	Fetal Heart	heart
29	chr14:65222800-65228200	Weak transcription	K562	blood
30	chr14:65223200-65229400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr14:65223200-65229800	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr14:65223400-65226400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr14:65223400-65229800	Enhancers	Left Ventricle	heart
34	chr14:65223400-65230000	Enhancers	Fetal Muscle Trunk	muscle
35	chr14:65223600-65226400	Enhancers	Gastric	stomach
36	chr14:65223600-65226800	Enhancers	Colonic Mucosa	Colon
37	chr14:65223600-65230200	Weak transcription	Primary T cells from cord blood	blood
38	chr14:65223600-65230600	Enhancers	Right Ventricle	heart
39	chr14:65223600-65231600	Enhancers	Ovary	ovary
40	chr14:65223600-65232200	Enhancers	Fetal Stomach	stomach
41	chr14:65224000-65226200	Enhancers	Stomach Smooth Muscle	stomach
42	chr14:65224000-65226800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr14:65224000-65231400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr14:65224200-65226200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr14:65224200-65226200	Enhancers	Aorta	Aorta
46	chr14:65224200-65226600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr14:65224200-65226600	Enhancers	Fetal Lung	lung
48	chr14:65224200-65226600	Enhancers	Psoas Muscle	Psoas
49	chr14:65224200-65229000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:65224400-65226200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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