Variant report

Variant	rs15993
Chromosome Location	chr14:69352230-69352231
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:69352094-69353087	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr14:69352029-69352361	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr14:69352143-69352933	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr14:69351911-69353285	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr14:69352003-69353085	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr14:69350845-69353100	A549	lung:	n/a	n/a
7	POLR2A	chr14:69352216-69352296	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr14:69352146-69352309	HepG2	liver:	n/a	n/a
9	POLR2A	chr14:69350926-69353152	IMR90	lung:	n/a	n/a
10	POLR2A	chr14:69351922-69352697	K562	blood:	n/a	n/a
11	POLR2A	chr14:69352048-69353054	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr14:69351056-69353154	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:69351207..69353545-chr14:69360069..69361747,2	MCF-7	breast:
2	chr14:69344263..69347194-chr14:69349604..69352915,4	MCF-7	breast:
3	chr14:69347920..69352793-chr14:69354599..69357859,5	MCF-7	breast:

No data

Variant related genes	Relation type
ACTN1	TF binding region
ENSG00000258967	Chromatin interaction
ENSG00000072110	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12050161	0.84[JPT][hapmap]
rs12586591	0.88[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12586692	0.82[AMR][1000 genomes]
rs12588860	0.83[AMR][1000 genomes]
rs181484	0.84[JPT][hapmap]
rs72731601	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72733506	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs8010669	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902074	chr14:69339691-69360631	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69336400-69358800	Strong transcription	HSMMtube	muscle
2	chr14:69336400-69364200	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr14:69336400-69378200	Strong transcription	Primary T cells from cord blood	blood
4	chr14:69336600-69358600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:69336800-69360400	Weak transcription	Right Atrium	heart
6	chr14:69337400-69353000	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr14:69337400-69404400	Weak transcription	Fetal Brain Male	brain
8	chr14:69337600-69353000	Strong transcription	Aorta	Aorta
9	chr14:69337600-69361200	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr14:69337800-69352600	Strong transcription	Fetal Lung	lung
11	chr14:69337800-69353000	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:69337800-69353000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
13	chr14:69337800-69379200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:69337800-69380600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr14:69338000-69352600	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr14:69338000-69352600	Strong transcription	Brain Anterior Caudate	brain
17	chr14:69338000-69353000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:69338000-69353000	Strong transcription	Gastric	stomach
19	chr14:69338000-69353200	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr14:69338000-69355800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr14:69338000-69365400	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr14:69338000-69366200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr14:69338000-69378800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:69338200-69352800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:69338200-69353000	Strong transcription	Spleen	Spleen
26	chr14:69338200-69354000	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr14:69338200-69361400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:69338200-69361600	Strong transcription	Ovary	ovary
29	chr14:69338200-69361800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr14:69338200-69362200	Strong transcription	Fetal Muscle Leg	muscle
31	chr14:69338200-69362800	Strong transcription	Placenta	Placenta
32	chr14:69338200-69365000	Strong transcription	Pancreas	Pancrea
33	chr14:69338200-69365600	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr14:69338200-69375000	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr14:69338200-69378200	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr14:69338400-69353000	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr14:69338400-69353200	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr14:69338400-69360600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:69338400-69377800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr14:69338600-69353000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr14:69338600-69370600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr14:69339200-69394600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr14:69339600-69360800	Strong transcription	Fetal Stomach	stomach
44	chr14:69340800-69366800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr14:69341400-69352400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
46	chr14:69341400-69353000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr14:69341400-69353000	Strong transcription	Colonic Mucosa	Colon
48	chr14:69341800-69352800	Strong transcription	Lung	lung
49	chr14:69341800-69353200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr14:69341800-69360200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links