Variant report

Variant	rs545626346
Chromosome Location	chr14:31888749-31888750
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	ZNF143	chr14:31888734-31890363	Hela-S3	cervix:	n/a	chr14:31889870-31889880 chr14:31889763-31889773
2	HCFC1	chr14:31888131-31890973	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr14:31888350-31890652	MCF10A-Er-Src	breast:	n/a	n/a
4	MBD4	chr14:31888678-31891351	HepG2	liver:	n/a	n/a
5	ESRRA	chr14:31888472-31890907	GM12878	blood:	n/a	chr14:31888843-31888853 chr14:31888842-31888855 chr14:31888839-31888855 chr14:31888843-31888853
6	TBP	chr14:31888678-31890696	Hela-S3	cervix:	n/a	n/a
7	MAX	chr14:31888701-31888809	HepG2	liver:	n/a	n/a
8	MBD4	chr14:31888665-31890782	HepG2	liver:	n/a	n/a
9	SIN3A	chr14:31888738-31890260	H1-hESC	embryonic stem cell:	n/a	chr14:31889245-31889256
10	MYBL2	chr14:31888358-31891645	HepG2	liver:	n/a	n/a
11	NFIC	chr14:31888604-31891360	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:31887818..31891601-chr14:31923594..31927929,15	K562	blood:
2	chr14:31861407..31863284-chr14:31887639..31889155,2	K562	blood:
3	chr14:31090018..31093014-chr14:31887951..31890191,2	MCF-7	breast:
4	chr14:31675912..31678861-chr14:31887661..31889789,2	K562	blood:
5	chr14:31887046..31892106-chr14:31923824..31928892,9	K562	blood:
6	chr14:31888742..31889382-chr3:41241031..41241649,2	Hela-S3	cervix:
7	chr14:31854067..31858154-chr14:31887468..31890013,3	MCF-7	breast:
8	chr14:31888596..31889246-chr8:110346351..110347121,2	Hela-S3	cervix:
9	chr14:31675912..31678861-chr14:31887650..31889789,3	K562	blood:

Variant related genes	Relation type
ENSG00000250365	TF binding region
ENSG00000092108	Chromatin interaction
ENSG00000120526	Chromatin interaction
ENSG00000168036	Chromatin interaction
ENSG00000203546	Chromatin interaction
ENSG00000129480	Chromatin interaction
ENSG00000092148	Chromatin interaction
ENSG00000129493	Chromatin interaction
ENSG00000120533	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1042776	chr14:31844026-32003929	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv542019	chr14:31844026-32003929	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv931935	chr14:31871658-32117666	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv1050774	chr14:31879687-32102906	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv934110	chr14:31887749-32109529	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv934206	chr14:31887749-32257097	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:31816000-31888800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr14:31863000-31889000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:31870800-31888800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr14:31871000-31888800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr14:31871200-31888800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr14:31876000-31889000	Weak transcription	Gastric	stomach
8	chr14:31884600-31888800	Weak transcription	Small Intestine	intestine
9	chr14:31884600-31889000	Weak transcription	Spleen	Spleen
10	chr14:31885400-31889000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:31887000-31888800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr14:31887200-31890000	Active TSS	Hela-S3	cervix
13	chr14:31887400-31888800	Weak transcription	Left Ventricle	heart
14	chr14:31887400-31889000	Weak transcription	Esophagus	oesophagus
15	chr14:31887400-31889000	Weak transcription	Pancreas	Pancrea
16	chr14:31887400-31890000	Active TSS	NHLF	lung
17	chr14:31887600-31888800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr14:31887600-31888800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:31887600-31890600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:31887800-31889200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:31887800-31890000	Active TSS	A549	lung
22	chr14:31887800-31890200	Active TSS	Right Atrium	heart
23	chr14:31888000-31888800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr14:31888000-31890000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:31888000-31890000	Active TSS	NHDF-Ad	bronchial
26	chr14:31888200-31888800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr14:31888200-31888800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr14:31888200-31888800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr14:31888200-31888800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:31888200-31888800	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr14:31888200-31888800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr14:31888200-31888800	Flanking Active TSS	HUVEC	blood vessel
33	chr14:31888200-31889000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr14:31888200-31889200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:31888200-31889200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:31888200-31889200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr14:31888200-31889600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:31888200-31890000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr14:31888200-31890000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:31888200-31890000	Active TSS	Fetal Lung	lung
41	chr14:31888200-31890000	Active TSS	HMEC	breast
42	chr14:31888200-31890200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:31888200-31890200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:31888200-31890200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:31888200-31890200	Active TSS	HSMMtube	muscle
46	chr14:31888200-31890400	Active TSS	H1 Cell Line	embryonic stem cell
47	chr14:31888200-31890400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:31888200-31890400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr14:31888200-31890400	Active TSS	Colonic Mucosa	Colon
50	chr14:31888200-31890400	Active TSS	Fetal Stomach	stomach

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