Variant report

Variant	rs11626859
Chromosome Location	chr14:69359979-69359980
allele	A/G
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	CTCF	chr14:69359840-69359990	A549	lung:	n/a	chr14:69359926-69359944
2	CTCF	chr14:69359880-69360030	HMF	breast:	n/a	chr14:69359926-69359944
3	CTCF	chr14:69359860-69360010	BJ	skin:	n/a	chr14:69359926-69359944
4	POLR2A	chr14:69359960-69361233	A549	lung:	n/a	n/a
5	POLR2A	chr14:69359913-69360033	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69358005..69360954-chr14:69365847..69368420,3	MCF-7	breast:
2	chr14:69335131..69337608-chr14:69359625..69361996,2	MCF-7	breast:

Variant related genes	Relation type
ACTN1	TF binding region
ENSG00000258565	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11158771	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158772	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158773	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158774	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11620768	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621414	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621869	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11623410	0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11625353	1.00[ASN][1000 genomes]
rs11625822	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11626631	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628692	1.00[ASN][1000 genomes]
rs12185057	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17757952	1.00[JPT][hapmap]
rs17835718	1.00[JPT][hapmap]
rs17835911	1.00[JPT][hapmap]
rs4899267	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57653482	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58940034	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59072646	1.00[ASN][1000 genomes]
rs59382480	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985075	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985076	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985077	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985078	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985079	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985080	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985081	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985082	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985083	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733522	0.87[EUR][1000 genomes];1.00[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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69336400-69364200	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr14:69336400-69378200	Strong transcription	Primary T cells from cord blood	blood
3	chr14:69336800-69360400	Weak transcription	Right Atrium	heart
4	chr14:69337400-69404400	Weak transcription	Fetal Brain Male	brain
5	chr14:69337600-69361200	Strong transcription	Rectal Mucosa Donor 31	rectum
6	chr14:69337800-69379200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:69337800-69380600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr14:69338000-69365400	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr14:69338000-69366200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr14:69338000-69378800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:69338200-69361400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:69338200-69361600	Strong transcription	Ovary	ovary
13	chr14:69338200-69361800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr14:69338200-69362200	Strong transcription	Fetal Muscle Leg	muscle
15	chr14:69338200-69362800	Strong transcription	Placenta	Placenta
16	chr14:69338200-69365000	Strong transcription	Pancreas	Pancrea
17	chr14:69338200-69365600	Strong transcription	H9 Cell Line	embryonic stem cell
18	chr14:69338200-69375000	Strong transcription	Placenta Amnion	Placenta Amnion
19	chr14:69338200-69378200	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr14:69338400-69360600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:69338400-69377800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr14:69338600-69370600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr14:69339200-69394600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:69339600-69360800	Strong transcription	Fetal Stomach	stomach
25	chr14:69340800-69366800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr14:69341800-69360200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:69341800-69364800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr14:69341800-69366400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr14:69341800-69378400	Strong transcription	Fetal Intestine Small	intestine
30	chr14:69341800-69380400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:69342000-69378200	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr14:69342200-69378200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr14:69343400-69362600	Strong transcription	Thymus	Thymus
34	chr14:69345800-69394800	Weak transcription	Small Intestine	intestine
35	chr14:69346800-69379800	Strong transcription	Fetal Intestine Large	intestine
36	chr14:69348200-69389200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr14:69348600-69364800	Weak transcription	Stomach Mucosa	stomach
38	chr14:69348600-69375200	Weak transcription	K562	blood
39	chr14:69351400-69360800	Weak transcription	Fetal Heart	heart
40	chr14:69351400-69365600	Weak transcription	Fetal Kidney	kidney
41	chr14:69352000-69360600	Strong transcription	NHDF-Ad	bronchial
42	chr14:69352000-69361000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:69353000-69371600	Weak transcription	Brain Hippocampus Middle	brain
44	chr14:69353200-69361000	Strong transcription	NHLF	lung
45	chr14:69353800-69360800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr14:69354000-69393200	Strong transcription	NHEK	skin
47	chr14:69354400-69360600	Strong transcription	Right Ventricle	heart
48	chr14:69354400-69362800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr14:69354400-69363000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:69354400-69378600	Strong transcription	HUES6 Cell Line	embryonic stem cell

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