Variant report

Variant	rs73254556
Chromosome Location	chr14:31181400-31181401
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31181109..31183147-chr14:31184171..31186327,2	K562	blood:

Variant related genes	Relation type
ENSG00000092108	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs17348231	0.84[EUR][1000 genomes]
rs17348259	1.00[EUR][1000 genomes]
rs17362475	1.00[EUR][1000 genomes]
rs17363198	1.00[EUR][1000 genomes]
rs17433265	1.00[EUR][1000 genomes]
rs1884582	1.00[EUR][1000 genomes]
rs28483238	1.00[EUR][1000 genomes]
rs45531233	1.00[EUR][1000 genomes]
rs57216699	0.97[AFR][1000 genomes]
rs57549139	0.83[AFR][1000 genomes]
rs57618174	0.83[AFR][1000 genomes]
rs57677010	0.83[AFR][1000 genomes]
rs58653311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60350877	0.83[AFR][1000 genomes]
rs60353606	0.83[AFR][1000 genomes]
rs60362029	0.83[AFR][1000 genomes]
rs60727186	1.00[AFR][1000 genomes]
rs7157286	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73251132	0.83[AFR][1000 genomes]
rs73251134	0.83[AFR][1000 genomes]
rs73251145	0.83[AFR][1000 genomes]
rs73251146	0.83[AFR][1000 genomes]
rs73251151	0.97[AFR][1000 genomes]
rs73251156	0.97[AFR][1000 genomes]
rs73251167	0.90[AFR][1000 genomes]
rs73251169	0.97[AFR][1000 genomes]
rs73251177	0.97[AFR][1000 genomes]
rs73251179	0.97[AFR][1000 genomes]
rs73251181	0.97[AFR][1000 genomes]
rs73251184	0.97[AFR][1000 genomes]
rs73251188	0.97[AFR][1000 genomes]
rs73251199	1.00[AFR][1000 genomes]
rs73253017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73254546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73254548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73254552	1.00[AFR][1000 genomes]
rs73254553	1.00[AFR][1000 genomes]
rs73254554	1.00[AFR][1000 genomes]
rs73254555	1.00[AFR][1000 genomes]
rs73254558	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73254560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73254562	1.00[EUR][1000 genomes]
rs73254565	1.00[AFR][1000 genomes]
rs73254568	1.00[AFR][1000 genomes]
rs73254580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73254583	1.00[AFR][1000 genomes]
rs73254586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73254588	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73254589	1.00[AFR][1000 genomes]
rs73255979	0.83[AFR][1000 genomes]
rs73255992	0.83[AFR][1000 genomes]
rs73258111	0.83[AFR][1000 genomes]
rs73258118	0.83[AFR][1000 genomes]
rs73258119	0.83[AFR][1000 genomes]
rs73264309	0.83[AFR][1000 genomes]
rs73264311	0.83[AFR][1000 genomes]
rs73264321	0.83[AFR][1000 genomes]
rs73264329	0.83[AFR][1000 genomes]
rs73264330	0.83[AFR][1000 genomes]
rs73264333	0.83[AFR][1000 genomes]
rs73264341	0.83[AFR][1000 genomes]
rs73264346	0.83[AFR][1000 genomes]
rs73264352	0.83[AFR][1000 genomes]
rs73264362	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31113800-31205400	Weak transcription	Fetal Brain Male	brain
2	chr14:31122800-31205200	Weak transcription	Brain Angular Gyrus	brain
3	chr14:31123000-31212000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:31123400-31216400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr14:31133800-31197400	Weak transcription	Aorta	Aorta
6	chr14:31153600-31198800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:31153800-31187400	Weak transcription	Fetal Brain Female	brain
8	chr14:31160000-31206600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:31160000-31207200	Weak transcription	Right Ventricle	heart
10	chr14:31160400-31205000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:31160600-31192400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr14:31160800-31197400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr14:31160800-31198600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:31160800-31206200	Weak transcription	Small Intestine	intestine
15	chr14:31161000-31195600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr14:31161000-31195800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr14:31161600-31197000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr14:31161800-31199000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:31162000-31192000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr14:31162200-31192000	Weak transcription	A549	lung
21	chr14:31162200-31199200	Strong transcription	HepG2	liver
22	chr14:31162400-31204000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr14:31162600-31194000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:31162800-31183200	Weak transcription	Fetal Heart	heart
25	chr14:31164400-31195800	Weak transcription	Brain Substantia Nigra	brain
26	chr14:31165000-31208200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr14:31166000-31204200	Weak transcription	Colonic Mucosa	Colon
28	chr14:31166000-31205600	Weak transcription	Thymus	Thymus
29	chr14:31166400-31214200	Weak transcription	Pancreas	Pancrea
30	chr14:31167000-31183600	Weak transcription	HUVEC	blood vessel
31	chr14:31167800-31196000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr14:31168000-31195800	Weak transcription	Lung	lung
33	chr14:31168200-31185600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:31168200-31186000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr14:31168200-31186400	Weak transcription	Fetal Stomach	stomach
36	chr14:31168200-31188000	Weak transcription	Brain Germinal Matrix	brain
37	chr14:31168200-31195000	Weak transcription	K562	blood
38	chr14:31168200-31195800	Weak transcription	Spleen	Spleen
39	chr14:31168200-31205800	Weak transcription	Esophagus	oesophagus
40	chr14:31168200-31206000	Weak transcription	Gastric	stomach
41	chr14:31168200-31208600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr14:31168400-31196000	Weak transcription	Psoas Muscle	Psoas
43	chr14:31168600-31185200	Weak transcription	Brain Anterior Caudate	brain
44	chr14:31169600-31195000	Weak transcription	Fetal Thymus	thymus
45	chr14:31170200-31195800	Weak transcription	Brain Hippocampus Middle	brain
46	chr14:31170400-31188800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr14:31170400-31195600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:31171600-31205800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr14:31171800-31184000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr14:31172200-31195800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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