Variant report

Variant	rs374788075
Chromosome Location	chr14:38062800-38062801
allele	A/C
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	MBD4	chr14:38062469-38066000	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:38062570-38065874	HepG2	liver:	n/a	n/a
3	JUND	chr14:38062628-38066066	MCF-7	breast:	n/a	chr14:38064795-38064804 chr14:38065116-38065126 chr14:38063103-38063111 chr14:38065214-38065223 chr14:38063106-38063118 chr14:38064080-38064089 chr14:38065116-38065126 chr14:38062672-38062682 chr14:38065212-38065223 chr14:38065116-38065126 chr14:38064791-38064800 chr14:38063103-38063110 chr14:38065396-38065405 chr14:38065116-38065126 chr14:38063967-38063976 chr14:38065213-38065222
4	SIN3AK20	chr14:38060259-38066080	MCF-7	breast:	n/a	n/a
5	ZNF263	chr14:38062768-38066049	HEK293-T-REx	kidney:	n/a	chr14:38065390-38065399 chr14:38064974-38064983
6	POLR2A	chr14:38061993-38063784	H1-neurons	neurons:	n/a	n/a
7	EP300	chr14:38062686-38065992	MCF-7	breast:	n/a	chr14:38063806-38063822 chr14:38063793-38063809 chr14:38064922-38064938 chr14:38065416-38065429
8	GATA3	chr14:38062684-38064001	MCF-7	breast:	n/a	chr14:38063101-38063110 chr14:38062965-38062981
9	POLR2A	chr14:38059290-38065931	MCF-7	breast:	n/a	n/a
10	JUND	chr14:38062687-38063847	T-47D	breast:	n/a	chr14:38063103-38063111 chr14:38063106-38063118 chr14:38063103-38063110
11	TEAD4	chr14:38062782-38063848	HepG2	liver:	n/a	n/a
12	POLR2A	chr14:38062485-38064337	HepG2	liver:	n/a	n/a
13	POLR2A	chr14:38061223-38062968	HepG2	liver:	n/a	n/a
14	POLR2A	chr14:38061996-38063915	H1-neurons	neurons:	n/a	n/a
15	MAZ	chr14:38062278-38062810	HepG2	liver:	n/a	n/a
16	GATA3	chr14:38062575-38063027	MCF-7	breast:	n/a	chr14:38062965-38062981
17	HEY1	chr14:38061267-38065955	HepG2	liver:	n/a	chr14:38065572-38065587 chr14:38064280-38064295 chr14:38063965-38063980 chr14:38064069-38064084 chr14:38064057-38064072 chr14:38063797-38063812
18	PML	chr14:38062592-38065777	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:38061292..38062805-chr14:38087179..38088948,2	MCF-7	breast:
2	chr14:37996620..37999759-chr14:38060620..38062986,3	MCF-7	breast:
3	chr12:120729261..120730769-chr14:38062187..38064055,2	MCF-7	breast:
4	chr14:38055708..38063394-chr14:38063498..38068319,8	K562	blood:
5	chr14:38061626..38064274-chr8:144362134..144365132,2	MCF-7	breast:
6	chr14:37731472..37733246-chr14:38060600..38063260,2	MCF-7	breast:
7	chr14:38062598..38064269-chr16:87798800..87800930,2	MCF-7	breast:
8	chr14:38061973..38064113-chr8:48650908..48653008,2	MCF-7	breast:
9	chr14:37709149..37730989-chr14:38048141..38067789,135	MCF-7	breast:
10	chr14:21736096..21738321-chr14:38062641..38065635,3	MCF-7	breast:
11	chr14:37708906..37733371-chr14:38048131..38068843,170	MCF-7	breast:
12	chr14:38061358..38063507-chr3:161089489..161091930,2	MCF-7	breast:
13	chr14:37903287..37907312-chr14:38059908..38064571,5	MCF-7	breast:
14	chr14:38062286..38064819-chr20:46129105..46132077,2	MCF-7	breast:

Variant related genes	Relation type
TTC6	TF binding region
ENSG00000129514	Chromatin interaction
ENSG00000139865	Chromatin interaction
ENSG00000207046	Chromatin interaction
ENSG00000196542	Chromatin interaction
ENSG00000104731	Chromatin interaction
ENSG00000253716	Chromatin interaction
ENSG00000221869	Chromatin interaction
ENSG00000092199	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000124151	Chromatin interaction
ENSG00000151338	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530038	chr14:37590543-38336191	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv826923	chr14:38017619-38108645	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv832772	chr14:38030300-38225921	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
4	nsv901642	chr14:38041870-38081005	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv901643	chr14:38047789-38081005	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv901644	chr14:38049107-38064738	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv901645	chr14:38051035-38064215	Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv901646	chr14:38051035-38081005	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv901647	chr14:38052110-38064738	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
10	nsv901648	chr14:38052110-38065813	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
11	nsv916985	chr14:38052347-38838551	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
12	nsv901649	chr14:38053334-38065813	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
13	esv3405207	chr14:38062726-38066074	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38053400-38062800	Weak transcription	Hela-S3	cervix
2	chr14:38056200-38065600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
3	chr14:38056400-38066000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
4	chr14:38057000-38065400	Active TSS	Liver	Liver
5	chr14:38059600-38063200	Bivalent/Poised TSS	Stomach Mucosa	stomach
6	chr14:38059800-38065600	Active TSS	A549	lung
7	chr14:38060000-38063200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
8	chr14:38060400-38064000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
9	chr14:38060600-38064000	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
10	chr14:38061400-38063200	Bivalent/Poised TSS	Fetal Stomach	stomach
11	chr14:38061600-38062800	Active TSS	Esophagus	oesophagus
12	chr14:38061800-38064600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
13	chr14:38062200-38063000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:38062200-38063000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
15	chr14:38062200-38063400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:38062200-38063400	Bivalent/Poised TSS	Fetal Lung	lung
17	chr14:38062200-38063600	Weak transcription	Pancreas	Pancrea
18	chr14:38062400-38063400	Weak transcription	Gastric	stomach
19	chr14:38062400-38063600	Weak transcription	Lung	lung
20	chr14:38062400-38064000	Active TSS	Colonic Mucosa	Colon
21	chr14:38062400-38064400	Active TSS	Small Intestine	intestine
22	chr14:38062400-38065200	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr14:38062600-38062800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:38062600-38062800	Active TSS	HepG2	liver
25	chr14:38062800-38063000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:38062800-38063200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:38062800-38063200	Flanking Active TSS	Hela-S3	cervix
28	chr14:38062800-38063400	Bivalent Enhancer	NHEK	skin
29	chr14:38062800-38063600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:38062800-38063600	Bivalent/Poised TSS	Esophagus	oesophagus
31	chr14:38062800-38065600	Bivalent/Poised TSS	HepG2	liver
32	chr14:38062800-38065600	Active TSS	K562	blood

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