Variant report

Variant	rs17363198
Chromosome Location	chr14:31142940-31142941
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31104327..31107315-chr14:31142719..31144888,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17348231	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17348259	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17362475	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17433265	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1884582	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28483238	1.00[EUR][1000 genomes]
rs45531233	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58653311	1.00[EUR][1000 genomes]
rs7157286	1.00[EUR][1000 genomes]
rs73253017	1.00[EUR][1000 genomes]
rs73254546	1.00[EUR][1000 genomes]
rs73254548	1.00[EUR][1000 genomes]
rs73254556	1.00[EUR][1000 genomes]
rs73254558	1.00[EUR][1000 genomes]
rs73254560	0.92[EUR][1000 genomes]
rs73254562	1.00[EUR][1000 genomes]
rs73254580	1.00[EUR][1000 genomes]
rs73254586	1.00[EUR][1000 genomes]
rs73254588	1.00[EUR][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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31093800-31159600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:31094200-31145200	Weak transcription	Small Intestine	intestine
3	chr14:31096000-31167400	Weak transcription	Gastric	stomach
4	chr14:31113800-31205400	Weak transcription	Fetal Brain Male	brain
5	chr14:31115000-31167600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:31115200-31159600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:31119000-31153200	Weak transcription	Right Ventricle	heart
8	chr14:31121600-31159600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:31122400-31159600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr14:31122600-31152200	Weak transcription	Spleen	Spleen
11	chr14:31122800-31205200	Weak transcription	Brain Angular Gyrus	brain
12	chr14:31123000-31212000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr14:31123400-31216400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr14:31123600-31159800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr14:31123600-31165400	Weak transcription	Colonic Mucosa	Colon
16	chr14:31124400-31148200	Weak transcription	Brain Substantia Nigra	brain
17	chr14:31124400-31152600	Weak transcription	Brain Hippocampus Middle	brain
18	chr14:31124400-31160200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr14:31124400-31171400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr14:31125000-31159600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr14:31125200-31152400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr14:31125200-31170000	Weak transcription	Colon Smooth Muscle	Colon
23	chr14:31125400-31152400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr14:31125400-31160000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr14:31126200-31151800	Weak transcription	NHLF	lung
26	chr14:31126400-31151200	Weak transcription	HMEC	breast
27	chr14:31128200-31144800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr14:31128200-31152200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:31128200-31152400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr14:31128200-31164600	Weak transcription	Brain Anterior Caudate	brain
31	chr14:31128200-31165600	Weak transcription	HSMMtube	muscle
32	chr14:31131600-31151200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr14:31131800-31144200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr14:31132200-31148800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr14:31132400-31160400	Weak transcription	Hela-S3	cervix
36	chr14:31133000-31143000	Weak transcription	Placenta	Placenta
37	chr14:31133200-31160600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr14:31133600-31143000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr14:31133600-31144800	Weak transcription	Brain Germinal Matrix	brain
40	chr14:31133600-31153000	Weak transcription	Fetal Brain Female	brain
41	chr14:31133800-31143800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:31133800-31145000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr14:31133800-31145200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr14:31133800-31145600	Weak transcription	Thymus	Thymus
45	chr14:31133800-31146400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr14:31133800-31147400	Weak transcription	A549	lung
47	chr14:31133800-31149800	Weak transcription	Fetal Stomach	stomach
48	chr14:31133800-31151800	Weak transcription	Ovary	ovary
49	chr14:31133800-31152200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr14:31133800-31152200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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