Variant report

Variant	rs392101
Chromosome Location	chr14:31114551-31114552
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31113222..31116093-chr14:31150791..31153051,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258648	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10131312	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10139188	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10140887	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10143215	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10143362	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10148858	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10149721	1.00[EUR][1000 genomes]
rs10483365	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622971	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624441	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628284	1.00[EUR][1000 genomes]
rs11628947	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1548257	1.00[EUR][1000 genomes]
rs17096955	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17097068	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097075	0.96[ASN][1000 genomes]
rs17097077	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097124	1.00[EUR][1000 genomes]
rs17097127	1.00[EUR][1000 genomes]
rs17348844	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17364127	1.00[EUR][1000 genomes]
rs2124159	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273517	1.00[EUR][1000 genomes]
rs229140	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs229142	0.96[ASN][1000 genomes]
rs229165	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229203	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229204	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229229	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs229230	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs229238	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs229239	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs229242	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs229256	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs230342	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs230344	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230345	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230349	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230350	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs230354	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs230357	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230365	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28435745	1.00[EUR][1000 genomes]
rs28662978	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28679478	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34346578	0.83[ASN][1000 genomes]
rs455614	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981073	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4981075	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4981760	0.84[ASN][1000 genomes]
rs4981763	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4981768	0.88[ASN][1000 genomes]
rs4981769	1.00[EUR][1000 genomes]
rs57057168	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60495706	1.00[EUR][1000 genomes]
rs6571360	1.00[EUR][1000 genomes]
rs7140980	1.00[EUR][1000 genomes]
rs7147237	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7152647	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7156485	1.00[EUR][1000 genomes]
rs7158970	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7160985	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7161321	1.00[EUR][1000 genomes]
rs8004335	0.84[ASN][1000 genomes]
rs8011610	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8012506	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8014225	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs880979	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv564171	chr14:31068090-31149630	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31092200-31121000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:31092200-31133200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:31092200-31133200	Weak transcription	Esophagus	oesophagus
4	chr14:31092400-31122800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:31093600-31127200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:31093800-31159600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:31094000-31122000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr14:31094200-31121000	Weak transcription	Spleen	Spleen
9	chr14:31094200-31145200	Weak transcription	Small Intestine	intestine
10	chr14:31095200-31119200	Weak transcription	Colonic Mucosa	Colon
11	chr14:31095800-31121000	Weak transcription	Ovary	ovary
12	chr14:31095800-31121000	Weak transcription	Thymus	Thymus
13	chr14:31096000-31116600	Weak transcription	Lung	lung
14	chr14:31096000-31121000	Weak transcription	Pancreas	Pancrea
15	chr14:31096000-31167400	Weak transcription	Gastric	stomach
16	chr14:31097200-31133800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr14:31099600-31133800	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr14:31099600-31134000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:31100600-31123600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:31102000-31123600	Strong transcription	NHDF-Ad	bronchial
21	chr14:31102200-31115200	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr14:31102400-31121000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:31102800-31128800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr14:31104000-31121200	Weak transcription	NHEK	skin
25	chr14:31104200-31121200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr14:31104200-31133200	Weak transcription	Aorta	Aorta
27	chr14:31104600-31114600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr14:31104800-31121200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr14:31105200-31118000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr14:31107000-31117800	Weak transcription	NHLF	lung
31	chr14:31108000-31115000	Strong transcription	Osteobl	bone
32	chr14:31109400-31120600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr14:31109400-31125200	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr14:31109400-31125800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr14:31109600-31118400	Weak transcription	HMEC	breast
36	chr14:31109800-31118600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr14:31110200-31116000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:31110600-31141800	Weak transcription	Stomach Mucosa	stomach
39	chr14:31110800-31115400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:31111000-31115200	Strong transcription	Left Ventricle	heart
41	chr14:31111200-31115400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr14:31111200-31120600	Weak transcription	NH-A	brain
43	chr14:31111600-31121000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr14:31111800-31115200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
45	chr14:31111800-31116200	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr14:31112000-31115200	ZNF genes & repeats	GM12878-XiMat	blood
47	chr14:31112000-31115600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr14:31112200-31114600	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr14:31112200-31114600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:31112200-31115000	Strong transcription	Fetal Thymus	thymus

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