Variant report

Variant	rs115343508
Chromosome Location	chr14:104552048-104552049
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:122)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:104552034-104552084	HIPEpiC	eye:	n/a
2	chr14:104552034-104552084	HepG2	liver:	n/a
3	chr14:104552034-104552084	AG09309	skin:	n/a
4	chr14:104552034-104552084	T-47D	breast:	n/a
5	chr14:104552032-104552082	ovcar-3	ovarian:	n/a
6	chr14:104552034-104552084	H1-hESC	embryonic stem cell:	embryo
7	chr14:104552032-104552082	MCF-7	breast:	n/a
8	chr14:104552032-104552082	NT2-D1	testis:	n/a
9	chr14:104552034-104552084	CMK	blood:	n/a
10	chr14:104552032-104552082	AoSMC	blood vessel:	n/a
11	chr14:104552032-104552082	HEK293	kidney:	embryo
12	chr14:104552034-104552084	AoSMC	blood vessel:	n/a
13	chr14:104552034-104552084	GM12878	blood:	n/a
14	chr14:104552032-104552082	GM19239	blood:	n/a
15	chr14:104552032-104552082	HCPEpiC	choroid plexus:	n/a
16	chr14:104552032-104552082	PANC-1	pancreas:	n/a
17	chr14:104552034-104552084	MCF10A-Er-Src	breast:	n/a
18	chr14:104552032-104552082	SK-N-SH_RA	brain:	n/a
19	chr14:104552032-104552082	AG09319	gingival:	n/a
20	chr14:104552032-104552082	Caco-2	colon:	n/a
21	chr14:104552032-104552082	HCT-116	colon:	n/a
22	chr14:104552032-104552082	HEEpiC	esophagus:	n/a
23	chr14:104552032-104552082	BJ	skin:	n/a
24	chr14:104552032-104552082	HCM	heart:	n/a
25	chr14:104552032-104552082	AG10803	skin:	n/a
26	chr14:104552032-104552082	NH-A	brain:	n/a
27	chr14:104552034-104552084	Hepatocyte	liver:	n/a
28	chr14:104552034-104552084	Caco-2	colon:	n/a
29	chr14:104552032-104552082	HRE	kidney:	n/a
30	chr14:104552034-104552084	SKMC	muscle:	n/a
31	chr14:104552032-104552082	MCF10A-Er-Src	breast:	n/a
32	chr14:104552034-104552084	AG10803	skin:	n/a
33	chr14:104552034-104552084	ProgFib	skin:	n/a
34	chr14:104552032-104552082	RPTEC	kidney:	n/a
35	chr14:104552032-104552082	HCF	heart:	n/a
36	chr14:104552032-104552082	Hela-S3	cervix:	n/a
37	chr14:104552034-104552084	HL-60	blood:	n/a
38	chr14:104552034-104552084	AG09319	gingival:	n/a
39	chr14:104552032-104552082	Jurkat	blood:	n/a
40	chr14:104552034-104552084	PANC-1	pancreas:	n/a
41	chr14:104552032-104552082	K562	blood:	n/a
42	chr14:104552034-104552084	PFSK-1	brain:	n/a
43	chr14:104552032-104552082	PrEC	prostate:	n/a
44	chr14:104552032-104552082	PFSK-1	brain:	n/a
45	chr14:104552034-104552084	GM12891	blood:	n/a
46	chr14:104552032-104552082	HIPEpiC	eye:	n/a
47	chr14:104552034-104552084	BJ	skin:	n/a
48	chr14:104552034-104552084	RPTEC	kidney:	n/a
49	chr14:104552034-104552084	HEK293	kidney:	embryo
50	chr14:104552034-104552084	NT2-D1	testis:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104545223..104554915-chr14:104580388..104589598,19	MCF-7	breast:
2	chr14:104550379..104556575-chr14:104558618..104564277,9	MCF-7	breast:
3	chr14:104551586..104553253-chr14:104557526..104560384,2	K562	blood:
4	chr14:104551883..104555140-chr14:104557914..104560104,3	MCF-7	breast:

No data

Variant related genes	Relation type
ASPG	CpG island
ENSG00000166183	Chromatin interaction
ENSG00000207568	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
4	nsv1049690	chr14:104411621-104575838	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv542208	chr14:104411621-104575838	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv526680	chr14:104427043-104568472	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1047990	chr14:104460605-104556463	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1050479	chr14:104500427-104805738	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Active 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	42 gene(s)	inside rSNPs	diseases
9	esv1806632	chr14:104516262-104640011	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
10	nsv427946	chr14:104522565-104680785	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	nsv902325	chr14:104523839-104624689	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
12	nsv902326	chr14:104523839-104627198	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
13	nsv902327	chr14:104523839-104630711	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
14	nsv902328	chr14:104523839-104646326	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
15	nsv902329	chr14:104523839-104656659	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
16	nsv902330	chr14:104523839-104662533	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
17	nsv902331	chr14:104523839-104849219	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
18	nsv1044920	chr14:104528663-104803058	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
19	nsv902332	chr14:104534574-104646326	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
20	nsv470674	chr14:104545284-104710505	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
21	nsv902333	chr14:104545285-104624689	Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
22	nsv902334	chr14:104545285-104662533	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
23	nsv902335	chr14:104545285-104670212	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
24	nsv902336	chr14:104546893-104608068	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
25	nsv902337	chr14:104546893-104624914	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
26	nsv902338	chr14:104546893-104627198	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
27	nsv902339	chr14:104546893-104636584	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
28	nsv519605	chr14:104546893-104657760	Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription 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	36 gene(s)	inside rSNPs	diseases
29	nsv902340	chr14:104546893-104662533	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
30	esv3408848	chr14:104550624-104553572	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
31	esv3330983	chr14:104550899-104552997	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
32	esv3372929	chr14:104551399-104552597	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104548400-104552200	Enhancers	Stomach Mucosa	stomach
2	chr14:104549000-104552200	Bivalent Enhancer	Placenta	Placenta
3	chr14:104549600-104554000	Weak transcription	Pancreas	Pancrea
4	chr14:104550200-104552200	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr14:104550800-104555200	Enhancers	Gastric	stomach
6	chr14:104551200-104552200	Enhancers	Fetal Heart	heart
7	chr14:104551200-104555000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr14:104551400-104552200	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr14:104551400-104552200	Enhancers	Lung	lung
10	chr14:104551400-104552400	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr14:104551400-104552400	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr14:104551400-104555000	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr14:104551600-104552200	Enhancers	Duodenum Mucosa	Duodenum
14	chr14:104551600-104552200	Active TSS	Ovary	ovary
15	chr14:104551800-104552200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:104551800-104552200	Bivalent/Poised TSS	Psoas Muscle	Psoas
17	chr14:104551800-104552200	Active TSS	Right Ventricle	heart
18	chr14:104551800-104552400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr14:104551800-104553200	Active TSS	Right Atrium	heart
20	chr14:104552000-104552200	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr14:104552000-104552200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr14:104552000-104552200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr14:104552000-104552200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
24	chr14:104552000-104552200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:104552000-104552200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:104552000-104552200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:104552000-104552200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
28	chr14:104552000-104552200	Bivalent Enhancer	Brain Germinal Matrix	brain
29	chr14:104552000-104552200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr14:104552000-104552200	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr14:104552000-104552200	Bivalent/Poised TSS	Fetal Stomach	stomach
32	chr14:104552000-104552200	Flanking Active TSS	Spleen	Spleen
33	chr14:104552000-104552200	Bivalent Enhancer	HMEC	breast
34	chr14:104552000-104552400	Active TSS	H9 Cell Line	embryonic stem cell
35	chr14:104552000-104552400	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr14:104552000-104552400	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr14:104552000-104552400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
38	chr14:104552000-104552400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:104552000-104552400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
40	chr14:104552000-104552400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr14:104552000-104552400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr14:104552000-104552400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr14:104552000-104552400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr14:104552000-104552400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:104552000-104552400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:104552000-104552400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
47	chr14:104552000-104552600	Active TSS	H1 Cell Line	embryonic stem cell
48	chr14:104552000-104552600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
49	chr14:104552000-104552600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
50	chr14:104552000-104552600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon

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