Variant report

Variant	rs17106571
Chromosome Location	chr14:37760478-37760479
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17106568	0.92[ASW][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2224156	0.84[ASW][hapmap];0.92[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs55979582	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56185940	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57233419	1.00[AMR][1000 genomes]
rs57446966	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58215640	1.00[AMR][1000 genomes]
rs61618026	1.00[AMR][1000 genomes]
rs6571811	0.82[LWK][hapmap];0.95[MKK][hapmap]
rs7142930	1.00[YRI][hapmap]
rs7155654	0.92[ASW][hapmap];0.97[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7157125	0.84[ASW][hapmap];0.90[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs73252062	1.00[AMR][1000 genomes]
rs73254027	1.00[AMR][1000 genomes]
rs73254028	1.00[AMR][1000 genomes]
rs73256042	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73256043	1.00[AMR][1000 genomes]
rs73264014	1.00[AMR][1000 genomes]
rs8018957	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530038	chr14:37590543-38336191	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv915783	chr14:37607836-38002966	Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1036854	chr14:37609535-38013533	Active TSS ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv542045	chr14:37609535-38013533	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv901635	chr14:37623177-37782273	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv3528451	chr14:37631483-37771365	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv3527359	chr14:37631504-37771435	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	esv3370191	chr14:37631508-37771354	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv3527360	chr14:37631521-37771311	Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	esv3528462	chr14:37631535-37771345	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats 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	14 gene(s)	inside rSNPs	diseases
11	esv3528473	chr14:37631543-37771255	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	esv3527361	chr14:37631554-37771408	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv3528484	chr14:37631599-37771228	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	esv3527363	chr14:37631608-37771230	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv901638	chr14:37702799-37814824	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	esv1797813	chr14:37738197-37846877	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	esv1820642	chr14:37738197-37846877	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	esv1822817	chr14:37738197-37846877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	esv1851834	chr14:37738197-37846877	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	nsv901639	chr14:37743583-38038468	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37716000-37770600	Weak transcription	A549	lung
2	chr14:37740000-37762000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:37749200-37761000	Weak transcription	Pancreas	Pancrea
4	chr14:37749200-37761800	Weak transcription	HepG2	liver
5	chr14:37749600-37761200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:37750600-37761400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:37750600-37761800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:37752400-37796200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr14:37753400-37761600	Weak transcription	Fetal Intestine Large	intestine
10	chr14:37754000-37760800	Weak transcription	Fetal Intestine Small	intestine
11	chr14:37754200-37762000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr14:37754200-37781400	Weak transcription	Colon Smooth Muscle	Colon
13	chr14:37755200-37764800	Weak transcription	Right Ventricle	heart
14	chr14:37755400-37761800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr14:37756800-37761800	Weak transcription	Lung	lung
16	chr14:37756800-37761800	Weak transcription	Small Intestine	intestine
17	chr14:37756800-37762000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:37757000-37761800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:37757000-37762600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr14:37757400-37760800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr14:37757400-37764800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr14:37757800-37761000	Strong transcription	HUVEC	blood vessel
23	chr14:37757800-37761600	Weak transcription	Fetal Muscle Leg	muscle
24	chr14:37758000-37761000	Weak transcription	Brain Hippocampus Middle	brain
25	chr14:37758200-37761000	Strong transcription	Stomach Smooth Muscle	stomach
26	chr14:37758400-37761000	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr14:37758400-37761600	Strong transcription	Ovary	ovary
28	chr14:37758600-37762000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr14:37759000-37761600	Weak transcription	Brain Substantia Nigra	brain
30	chr14:37759000-37761800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:37759000-37764800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:37759000-37810600	Weak transcription	Psoas Muscle	Psoas
33	chr14:37759200-37760800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr14:37759200-37764800	Weak transcription	Gastric	stomach
35	chr14:37759400-37762000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:37759400-37762600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr14:37759600-37761400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr14:37759600-37762200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr14:37759600-37762600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr14:37759800-37761400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:37759800-37761800	Weak transcription	Aorta	Aorta
42	chr14:37759800-37762000	Weak transcription	Fetal Lung	lung
43	chr14:37759800-37762600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
44	chr14:37759800-37762800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:37760000-37760800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr14:37760000-37761200	Weak transcription	Fetal Stomach	stomach
47	chr14:37760000-37762800	Weak transcription	Left Ventricle	heart
48	chr14:37760200-37762800	Weak transcription	Adipose Nuclei	Adipose
49	chr14:37760200-37763000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
50	chr14:37760400-37762000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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