Variant report

Variant	rs587672317
Chromosome Location	chr14:105714042-105714043
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	TCF3	chr14:105714000-105714326	GM12878	blood:	n/a	n/a
2	MXI1	chr14:105713878-105716413	IMR90	lung:	n/a	n/a
3	POLR2A	chr14:105713980-105715268	HL-60	blood:	n/a	n/a
4	ELF1	chr14:105713996-105715030	GM12878	blood:	n/a	n/a
5	RFX5	chr14:105713778-105715337	IMR90	lung:	n/a	chr14:105714779-105714788
6	RFX5	chr14:105713745-105715212	SK-N-SH	brain:	n/a	chr14:105714779-105714788
7	MXI1	chr14:105713807-105715838	SK-N-SH	brain:	n/a	n/a
8	MAX	chr14:105713947-105715780	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:105706521..105709177-chr14:105712711..105714374,2	MCF-7	breast:
2	chr14:105713379..105716522-chr14:105764463..105769159,4	MCF-7	breast:
3	chr14:105687326..105689962-chr14:105713390..105716265,3	MCF-7	breast:

Variant related genes	Relation type
BRF1	TF binding region
BTBD6	TF binding region
ENSG00000185024	Chromatin interaction
ENSG00000179364	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	esv2758369	chr14:105513346-105803170	Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
10	esv2760014	chr14:105513346-105803170	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
11	nsv902433	chr14:105596054-105719306	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv902441	chr14:105602619-105803170	Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv902442	chr14:105602619-105803170	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	esv1817919	chr14:105605199-105803170	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	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
16	nsv902460	chr14:105646179-105731255	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
17	nsv902464	chr14:105654606-105717265	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
18	nsv510651	chr14:105656882-105725155	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv566186	chr14:105675701-105779305	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
20	nsv902466	chr14:105704465-105803170	Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
21	esv29986	chr14:105707292-105803170	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
22	nsv902467	chr14:105709106-105719306	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
23	nsv902468	chr14:105712091-105721808	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
24	esv3357131	chr14:105713857-105716805	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105668600-105714200	Weak transcription	HUVEC	blood vessel
2	chr14:105681400-105714200	Weak transcription	HSMM	muscle
3	chr14:105687400-105714200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:105690400-105721400	Weak transcription	K562	blood
5	chr14:105694000-105714200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr14:105694200-105714200	Weak transcription	Primary T cells from cord blood	blood
7	chr14:105703800-105714200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr14:105708600-105714200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:105708600-105714200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr14:105708600-105714400	Weak transcription	Aorta	Aorta
11	chr14:105711600-105714200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:105711800-105717000	Enhancers	Fetal Brain Male	brain
13	chr14:105712000-105714200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:105712800-105714200	Genic enhancers	Primary T cells fromperipheralblood	blood
15	chr14:105713200-105714200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:105713200-105714200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr14:105713200-105714400	Genic enhancers	Fetal Lung	lung
18	chr14:105713400-105714200	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr14:105713400-105714200	Genic enhancers	Hela-S3	cervix
20	chr14:105713400-105714400	Enhancers	Fetal Heart	heart
21	chr14:105713600-105714200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr14:105713600-105714200	Enhancers	Primary B cells from peripheral blood	blood
23	chr14:105713600-105714200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr14:105713600-105714200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:105713600-105714200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:105713600-105714400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr14:105713600-105714600	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr14:105713800-105714200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr14:105713800-105714200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr14:105713800-105714200	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr14:105713800-105714200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:105713800-105714200	Enhancers	Brain Hippocampus Middle	brain
33	chr14:105713800-105714200	Enhancers	Duodenum Mucosa	Duodenum
34	chr14:105713800-105714200	Enhancers	Fetal Intestine Large	intestine
35	chr14:105713800-105714200	Enhancers	Placenta	Placenta
36	chr14:105713800-105714200	Enhancers	Fetal Thymus	thymus
37	chr14:105713800-105714200	Enhancers	Right Ventricle	heart
38	chr14:105713800-105714200	Transcr. at gene 5' and 3'	Dnd41	blood
39	chr14:105713800-105714400	Enhancers	Left Ventricle	heart
40	chr14:105713800-105714400	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr14:105713800-105714400	Enhancers	Spleen	Spleen
42	chr14:105713800-105714800	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr14:105713800-105714800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr14:105713800-105714800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr14:105713800-105716000	Weak transcription	HepG2	liver
46	chr14:105714000-105714200	Enhancers	H1 Cell Line	embryonic stem cell
47	chr14:105714000-105714200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr14:105714000-105714200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:105714000-105714200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr14:105714000-105714200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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