Variant report

Variant	rs74797678
Chromosome Location	chr14:24914191-24914192
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
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	chr14:24913805-24914726	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:24914181-24914231	HMEC	breast:	n/a
2	chr14:24914181-24914231	HNPCEpiC	eye:	n/a
3	chr14:24914181-24914231	GM06990	blood:	n/a
4	chr14:24914181-24914231	HepG2	liver:	n/a
5	chr14:24914181-24914231	HUVEC	blood vessel:	n/a
6	chr14:24914181-24914231	AG10803	skin:	n/a
7	chr14:24914181-24914231	BJ	skin:	n/a
8	chr14:24914181-24914231	CMK	blood:	n/a
9	chr14:24914181-24914231	HCM	heart:	n/a
10	chr14:24914181-24914231	K562	blood:	n/a
11	chr14:24914181-24914231	T-47D	breast:	n/a
12	chr14:24914181-24914231	Caco-2	colon:	n/a
13	chr14:24914181-24914231	GM19239	blood:	n/a
14	chr14:24914181-24914231	HCT-116	colon:	n/a
15	chr14:24914181-24914231	AG04450	lung:	fetal
16	chr14:24914181-24914231	PrEC	prostate:	n/a
17	chr14:24914181-24914231	HPAEpiC	pulmonary alveolar:	n/a
18	chr14:24914181-24914231	HL-60	blood:	n/a
19	chr14:24914181-24914231	SK-N-SH	brain:	n/a
20	chr14:24914181-24914231	ovcar-3	ovarian:	n/a
21	chr14:24914181-24914231	ProgFib	skin:	n/a
22	chr14:24914181-24914231	NHBE	bronchial:	n/a
23	chr14:24914181-24914231	Hepatocyte	liver:	n/a
24	chr14:24914181-24914231	GM12891	blood:	n/a
25	chr14:24914181-24914231	HRPEpiC	eye:	n/a
26	chr14:24914181-24914231	HEK293	kidney:	embryo
27	chr14:24914181-24914231	GM12892	blood:	n/a
28	chr14:24914181-24914231	U87	brain:	n/a
29	chr14:24914181-24914231	Hela-S3	cervix:	n/a
30	chr14:24914181-24914231	IMR90	lung:	fetal
31	chr14:24914181-24914231	NB4	blood:	n/a
32	chr14:24914181-24914231	HIPEpiC	eye:	n/a
33	chr14:24914181-24914231	AoSMC	blood vessel:	n/a
34	chr14:24914181-24914231	BE2_C	brain:	n/a
35	chr14:24914181-24914231	HCF	heart:	n/a
36	chr14:24914181-24914231	NH-A	brain:	n/a
37	chr14:24914181-24914231	AG04449	skin:	fetal
38	chr14:24914181-24914231	HRCEpiC	kidney:	n/a
39	chr14:24914181-24914231	NT2-D1	testis:	n/a
40	chr14:24914181-24914231	MCF10A-Er-Src	breast:	n/a
41	chr14:24914181-24914231	SKMC	muscle:	n/a
42	chr14:24914181-24914231	SAEC	small airway:	n/a
43	chr14:24914181-24914231	GM12878	blood:	n/a
44	chr14:24914181-24914231	H1-hESC	embryonic stem cell:	embryo
45	chr14:24914181-24914231	LNCaP	prostate:	n/a
46	chr14:24914181-24914231	RPTEC	kidney:	n/a
47	chr14:24914181-24914231	HCPEpiC	choroid plexus:	n/a
48	chr14:24914181-24914231	AG09319	gingival:	n/a
49	chr14:24914181-24914231	ECC-1	luminal epithelium:	n/a
50	chr14:24914181-24914231	HRE	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:24781460..24810019-chr14:24892340..24914262,110	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-80A15.1.1-1	chr14:24913490-24914778	ENSG00000251021
2	lnc-RP11-80A15.1.1-1	chr14:24913490-24914778	NR_110032

No data

Variant related genes	Relation type
SDR39U1	TF binding region
SDR39U1	CpG island
ENSG00000129467	Chromatin interaction
ENSG00000129465	Chromatin interaction
ENSG00000258973	Chromatin interaction
ENSG00000213903	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1053330	chr14:24908047-24993666	Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	n/a
4	nsv564061	chr14:24911138-24945331	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	n/a
5	esv2761824	chr14:24914008-24993666	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
6	nsv1043355	chr14:24914008-24993666	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
7	nsv1045732	chr14:24914008-25019317	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24912000-24925800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:24912400-24922400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:24912600-24925800	Weak transcription	Ovary	ovary
4	chr14:24912800-24915800	Weak transcription	Aorta	Aorta
5	chr14:24912800-24922800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:24912800-24950800	Weak transcription	Gastric	stomach
7	chr14:24913000-24914800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr14:24913000-24914800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:24913000-24914800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr14:24913000-24914800	Weak transcription	Fetal Muscle Leg	muscle
11	chr14:24913000-24915000	Weak transcription	Brain Substantia Nigra	brain
12	chr14:24913000-24915000	Weak transcription	K562	blood
13	chr14:24913000-24915600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:24913000-24917000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:24913000-24917400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:24913000-24917600	Weak transcription	Placenta	Placenta
17	chr14:24913000-24917800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr14:24913000-24918000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:24913000-24922200	Weak transcription	Fetal Intestine Small	intestine
20	chr14:24913000-24922400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr14:24913000-24922800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:24913000-24923600	Weak transcription	NHEK	skin
23	chr14:24913000-24925400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:24913000-24925800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr14:24913000-24926400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:24913000-24930000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr14:24913000-24931600	Weak transcription	Fetal Kidney	kidney
28	chr14:24913000-24932400	Weak transcription	Primary B cells from cord blood	blood
29	chr14:24913000-24932800	Weak transcription	Primary T cells from cord blood	blood
30	chr14:24913200-24915000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:24913200-24916000	Weak transcription	HSMM	muscle
32	chr14:24913200-24921800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:24913200-24925400	Weak transcription	HMEC	breast
34	chr14:24913600-24923600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:24914000-24914400	Weak transcription	Fetal Stomach	stomach
36	chr14:24914000-24923200	Weak transcription	HepG2	liver

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