Variant report

Variant	rs548199114
Chromosome Location	chr14:105329928-105329929
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:105329864-105329993	HepG2	liver:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105329781..105332832-chr14:105486734..105489071,3	MCF-7	breast:
2	chr14:105260375..105263562-chr14:105329763..105332955,5	MCF-7	breast:
3	chr14:105265912..105268902-chr14:105329301..105333250,7	MCF-7	breast:
4	chr14:105277673..105279757-chr14:105329358..105331314,2	K562	blood:
5	chr14:105265888..105268831-chr14:105329056..105330600,3	MCF-7	breast:
6	chr14:105308114..105313218-chr14:105327481..105332918,6	MCF-7	breast:
7	chr14:105287373..105290281-chr14:105329548..105332218,5	MCF-7	breast:
8	chr14:105239791..105242217-chr14:105329726..105333005,4	MCF-7	breast:
9	chr14:105329803..105331498-chr14:105500045..105502562,2	MCF-7	breast:
10	chr14:105155136..105157307-chr14:105329558..105331716,2	MCF-7	breast:
11	chr14:105325199..105327039-chr14:105327761..105330678,2	K562	blood:
12	chr14:105329238..105330750-chr14:105398198..105400578,2	MCF-7	breast:
13	chr14:105319643..105321546-chr14:105328371..105330492,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKT1-4	chr14:105329920-105330291	NONHSAT040302

No data

Variant related genes	Relation type
ENSG00000258593	TF binding region
CEP170B	TF binding region
ENSG00000203485	Chromatin interaction
ENSG00000166428	Chromatin interaction
ENSG00000170779	Chromatin interaction
ENSG00000258811	Chromatin interaction
ENSG00000179627	Chromatin interaction
ENSG00000258701	Chromatin interaction
ENSG00000142208	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530812	chr14:104775571-105364883	Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1053591	chr14:105024558-105475931	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv542224	chr14:105024558-105475931	Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv2830002	chr14:105078251-105348552	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
5	nsv902389	chr14:105092479-105366499	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	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
7	nsv470677	chr14:105126354-105348552	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
8	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
9	nsv902405	chr14:105148655-105340643	Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
10	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
11	nsv902412	chr14:105238701-105361934	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers 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	53 gene(s)	inside rSNPs	diseases
12	esv1836552	chr14:105246686-105348552	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
13	nsv902413	chr14:105246686-105366499	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
14	esv1833474	chr14:105268228-105332154	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
15	esv1840298	chr14:105274292-105366499	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
16	nsv902416	chr14:105277209-105366499	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
17	nsv456456	chr14:105285159-105412541	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
18	nsv566099	chr14:105285159-105412541	Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
19	nsv902417	chr14:105323300-105350355	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
20	nsv902418	chr14:105323300-105361934	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
21	esv1817170	chr14:105329195-105332380	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
22	esv1822871	chr14:105329195-105332380	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
23	esv1836173	chr14:105329195-105348552	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
24	nsv566100	chr14:105329426-105332154	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
25	nsv566101	chr14:105329624-105332062	Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
26	nsv566102	chr14:105329624-105332154	Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
27	nsv566103	chr14:105329758-105331785	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
28	nsv566104	chr14:105329758-105331893	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
29	nsv566105	chr14:105329758-105331995	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
30	nsv566106	chr14:105329758-105332062	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
31	nsv566107	chr14:105329758-105332154	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
32	esv1843278	chr14:105329758-105332217	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
33	esv1841214	chr14:105329758-105332380	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
34	nsv566108	chr14:105329758-105332380	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
35	esv3347865	chr14:105329869-105330270	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105311000-105330600	Weak transcription	Right Atrium	heart
2	chr14:105320200-105330400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:105323800-105330200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:105324000-105330800	Weak transcription	Brain Substantia Nigra	brain
5	chr14:105325000-105330200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:105327600-105330200	Weak transcription	Esophagus	oesophagus
7	chr14:105327800-105330200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr14:105327800-105330200	Weak transcription	Liver	Liver
9	chr14:105327800-105330200	Weak transcription	Hela-S3	cervix
10	chr14:105328200-105330200	Enhancers	Pancreas	Pancrea
11	chr14:105328400-105330200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:105328800-105330200	Weak transcription	A549	lung
13	chr14:105329400-105330000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
14	chr14:105329600-105330000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr14:105329600-105330000	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr14:105329600-105330000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr14:105329600-105330000	Flanking Active TSS	HMEC	breast
18	chr14:105329600-105330400	Enhancers	Placenta	Placenta
19	chr14:105329600-105330400	Enhancers	Lung	lung
20	chr14:105329600-105330600	Weak transcription	Brain Hippocampus Middle	brain
21	chr14:105329800-105330000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
22	chr14:105329800-105330000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
23	chr14:105329800-105330000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
24	chr14:105329800-105330000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr14:105329800-105330000	Active TSS	Colonic Mucosa	Colon
26	chr14:105329800-105330000	Enhancers	Stomach Mucosa	stomach
27	chr14:105329800-105330000	Flanking Active TSS	HepG2	liver
28	chr14:105329800-105330000	Flanking Active TSS	NHEK	skin
29	chr14:105329800-105330200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:105329800-105330200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:105329800-105330200	Active TSS	Fetal Intestine Small	intestine
32	chr14:105329800-105330400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:105329800-105330600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr14:105329800-105330600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr14:105329800-105330600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:105329800-105330600	Bivalent/Poised TSS	Fetal Stomach	stomach
37	chr14:105329800-105330800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:105329800-105331200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
39	chr14:105329800-105331200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
40	chr14:105329800-105331200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr14:105329800-105331200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
42	chr14:105329800-105332600	Active TSS	Gastric	stomach
43	chr14:105329800-105333200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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