Variant report

Variant	rs529229803
Chromosome Location	chr14:65230862-65230863
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	EP300	chr14:65226747-65231955	SK-N-SH	brain:	n/a	chr14:65229497-65229513 chr14:65231359-65231366 chr14:65228770-65228786 chr14:65231099-65231108
2	CTCF	chr14:65230740-65230890	GM12878	blood:	n/a	n/a
3	SMC3	chr14:65230198-65232170	SK-N-SH	brain:	n/a	chr14:65230815-65230823 chr14:65231660-65231674 chr14:65230649-65230663
4	CTCF	chr14:65230720-65230870	NHLF	lung:	n/a	n/a
5	CTCF	chr14:65230760-65230910	HPF	lung:	n/a	n/a
6	MAX	chr14:65230191-65231976	A549	lung:	n/a	chr14:65230606-65230615 chr14:65231457-65231467 chr14:65230607-65230614 chr14:65230606-65230616 chr14:65230605-65230616
7	MAX	chr14:65230255-65231909	A549	lung:	n/a	chr14:65230606-65230615 chr14:65231457-65231467 chr14:65230607-65230614 chr14:65230606-65230616 chr14:65230605-65230616
8	CTCF	chr14:65230293-65232011	A549	lung:	n/a	chr14:65230642-65230663 chr14:65231658-65231676 chr14:65230647-65230665 chr14:65231660-65231673 chr14:65231653-65231674
9	CTCF	chr14:65230780-65230930	GM12869	blood:	n/a	n/a
10	POLR2A	chr14:65230390-65231021	K562	blood:	n/a	n/a
11	RAD21	chr14:65226715-65232277	SK-N-SH	brain:	n/a	chr14:65226775-65226787 chr14:65228771-65228784 chr14:65231656-65231675 chr14:65228769-65228783 chr14:65229999-65230012 chr14:65230645-65230664 chr14:65230007-65230020 chr14:65231449-65231463 chr14:65227072-65227091 chr14:65231658-65231670 chr14:65228012-65228025 chr14:65229182-65229195
12	CTCF	chr14:65230740-65230890	NHEK	skin:	n/a	n/a
13	POLR2A	chr14:65230700-65230919	K562	blood:	n/a	n/a
14	CTCF	chr14:65230740-65230890	GM12870	blood:	n/a	n/a
15	TCF12	chr14:65230182-65231939	A549	lung:	n/a	chr14:65230813-65230823
16	CTCF	chr14:65230839-65230871	GM12892	blood:	n/a	n/a
17	POLR2A	chr14:65227054-65231027	K562	blood:	n/a	n/a
18	CTCF	chr14:65230800-65230950	HAc	cerebellar:	n/a	n/a
19	RAD21	chr14:65230289-65230933	A549	lung:	n/a	chr14:65230645-65230664
20	CTCF	chr14:65230800-65230950	HPAF	blood vessel:	n/a	n/a
21	POLR2A	chr14:65230111-65232177	A549	lung:	n/a	n/a
22	CTCF	chr14:65230330-65232226	SK-N-SH	brain:	n/a	chr14:65230642-65230663 chr14:65231658-65231676 chr14:65230647-65230665 chr14:65231660-65231673 chr14:65231653-65231674

No.	Distal block	Cell Line	Cell type
1	chr14:65195829..65198759-chr14:65228499..65232345,3	MCF-7	breast:
2	chr14:65192290..65195649-chr14:65222693..65231374,9	MCF-7	breast:
3	chr14:65168373..65176902-chr14:65220182..65231670,21	MCF-7	breast:
4	chr14:65168335..65178043-chr14:65220677..65234710,31	MCF-7	breast:
5	chr14:65221170..65226335-chr14:65227109..65232798,8	MCF-7	breast:
6	chr14:64970497..64972286-chr14:65229092..65231234,2	K562	blood:

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

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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
6	nsv902025	chr14:65229364-65246181	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv519823	chr14:65230059-65241933	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	esv3356966	chr14:65230599-65234897	Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65215200-65232400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:65220600-65232200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr14:65220800-65233000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr14:65221200-65231600	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr14:65221200-65231600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr14:65221400-65231600	Enhancers	Spleen	Spleen
7	chr14:65221400-65232600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:65221600-65232400	Enhancers	Fetal Intestine Large	intestine
9	chr14:65221800-65232200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr14:65222200-65231600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr14:65222600-65231600	Enhancers	Fetal Heart	heart
12	chr14:65223600-65231600	Enhancers	Ovary	ovary
13	chr14:65223600-65232200	Enhancers	Fetal Stomach	stomach
14	chr14:65224000-65231400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr14:65225200-65231200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr14:65227400-65231000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr14:65227400-65231600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr14:65227600-65231600	Enhancers	Fetal Lung	lung
19	chr14:65227600-65231600	Enhancers	Fetal Thymus	thymus
20	chr14:65227600-65232800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr14:65227800-65231600	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr14:65228000-65231000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr14:65228200-65231600	Enhancers	HUVEC	blood vessel
24	chr14:65228200-65231800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr14:65228400-65231000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:65228400-65231200	Enhancers	NHDF-Ad	bronchial
27	chr14:65228400-65231600	Enhancers	Primary hematopoietic stem cells	blood
28	chr14:65228400-65265000	Weak transcription	Aorta	Aorta
29	chr14:65228800-65231600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr14:65228800-65231600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:65228800-65231600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:65228800-65234400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:65229200-65231200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr14:65229200-65231400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr14:65229200-65231600	Enhancers	NH-A	brain
36	chr14:65229200-65233600	Enhancers	HMEC	breast
37	chr14:65229400-65231000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr14:65229400-65231000	Enhancers	Fetal Kidney	kidney
39	chr14:65229400-65231200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:65229400-65231200	Enhancers	Brain Germinal Matrix	brain
41	chr14:65229400-65231400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:65229400-65232200	Enhancers	Placenta	Placenta
43	chr14:65229600-65231000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:65229600-65231200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr14:65229600-65231200	Enhancers	Brain Anterior Caudate	brain
46	chr14:65229600-65231200	Enhancers	Brain Hippocampus Middle	brain
47	chr14:65229600-65231200	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr14:65229600-65231200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
49	chr14:65229600-65231200	Enhancers	HSMM	muscle
50	chr14:65229600-65231400	Enhancers	Primary T cells fromperipheralblood	blood

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