Variant report

Variant	rs17115735
Chromosome Location	chr14:45468761-45468762
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10129456	0.84[YRI][hapmap]
rs10131972	0.95[YRI][hapmap]
rs10132401	0.95[YRI][hapmap]
rs10132454	0.95[YRI][hapmap]
rs10132492	0.84[YRI][hapmap]
rs10132637	0.90[YRI][hapmap]
rs10134083	0.95[YRI][hapmap]
rs10135653	0.90[YRI][hapmap]
rs10139464	1.00[YRI][hapmap]
rs10140308	0.95[YRI][hapmap]
rs10140534	0.90[YRI][hapmap]
rs10143572	0.84[YRI][hapmap]
rs10144179	0.95[YRI][hapmap]
rs10144729	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10145279	0.95[YRI][hapmap]
rs10145979	0.95[YRI][hapmap]
rs10146930	0.95[YRI][hapmap]
rs10147794	0.95[YRI][hapmap]
rs10148765	0.95[YRI][hapmap]
rs10149748	0.84[YRI][hapmap]
rs11157429	0.95[YRI][hapmap]
rs12100992	0.95[YRI][hapmap]
rs12101074	0.85[YRI][hapmap]
rs17115721	0.84[YRI][hapmap]
rs17115737	1.00[YRI][hapmap]
rs17115745	0.95[YRI][hapmap]
rs17634474	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28406098	0.85[YRI][hapmap]
rs28408667	0.84[YRI][hapmap]
rs28469277	0.95[YRI][hapmap]
rs28802144	0.84[YRI][hapmap]
rs61998158	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7143763	0.95[YRI][hapmap]
rs8003388	0.95[YRI][hapmap]
rs961194	0.84[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv1042585	chr14:45401506-45497907	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1045869	chr14:45415597-45487903	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	esv1801436	chr14:45441932-45476174	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv1038384	chr14:45447187-45521583	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1260	chr14:45457666-45502671	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv976833	chr14:45464242-45470996	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv933364	chr14:45467086-45705844	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17115735	NUP214	trans	parietal	SCAN

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45436200-45486600	Weak transcription	Gastric	stomach
2	chr14:45437000-45473200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:45437000-45496000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr14:45437000-45507400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:45437000-45514600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr14:45437200-45469400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:45438000-45501800	Weak transcription	Fetal Kidney	kidney
8	chr14:45441400-45469400	Weak transcription	Primary T cells from cord blood	blood
9	chr14:45449400-45482000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr14:45450000-45501800	Weak transcription	Lung	lung
11	chr14:45452000-45482200	Weak transcription	NHDF-Ad	bronchial
12	chr14:45452600-45482400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr14:45452800-45477800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr14:45458000-45473200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr14:45458200-45469400	Weak transcription	Fetal Muscle Leg	muscle
16	chr14:45458200-45469600	Weak transcription	Right Ventricle	heart
17	chr14:45458200-45469600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr14:45458200-45470000	Weak transcription	Left Ventricle	heart
19	chr14:45458200-45475200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:45458200-45478000	Weak transcription	Small Intestine	intestine
21	chr14:45458200-45487400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:45458200-45487400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr14:45458200-45501400	Weak transcription	Colon Smooth Muscle	Colon
24	chr14:45458200-45507400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:45458400-45481600	Weak transcription	Adipose Nuclei	Adipose
26	chr14:45458800-45486600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr14:45458800-45503400	Weak transcription	HUVEC	blood vessel
28	chr14:45459400-45507600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr14:45459600-45469800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr14:45459600-45477000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr14:45460800-45495800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:45461200-45501800	Weak transcription	HSMMtube	muscle
33	chr14:45461600-45469600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr14:45461800-45501400	Weak transcription	NHEK	skin
35	chr14:45462400-45506200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr14:45462800-45469400	Weak transcription	Fetal Brain Female	brain
37	chr14:45463400-45470000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr14:45463600-45507000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr14:45463800-45488200	Weak transcription	Fetal Brain Male	brain
40	chr14:45464000-45470600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr14:45464200-45469400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr14:45464400-45470000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr14:45464400-45482200	Weak transcription	HSMM	muscle
44	chr14:45464400-45507400	Weak transcription	Spleen	Spleen
45	chr14:45464600-45481400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr14:45464600-45507400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr14:45464600-45507600	Weak transcription	Hela-S3	cervix
48	chr14:45464800-45469200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr14:45465000-45470400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:45465600-45507800	Weak transcription	Fetal Heart	heart

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