Variant report

Variant	rs1999725
Chromosome Location	chr14:65904237-65904238
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	chr14:65904077..65906399-chr14:65944065..65947106,4	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10138671	0.85[CEU][hapmap];0.81[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs10142283	0.96[CEU][hapmap]
rs10144979	0.96[CEU][hapmap]
rs10150412	0.85[AMR][1000 genomes]
rs10152007	0.92[CEU][hapmap]
rs1113962	0.96[CEU][hapmap]
rs11158595	0.92[CEU][hapmap];0.88[GIH][hapmap];0.86[MEX][hapmap];0.90[AMR][1000 genomes]
rs11158598	0.84[EUR][1000 genomes]
rs11158603	0.96[CEU][hapmap];0.86[MEX][hapmap]
rs11623662	0.81[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11629437	0.90[AMR][1000 genomes]
rs11844682	0.92[CEU][hapmap];0.84[AMR][1000 genomes]
rs12433597	0.92[CEU][hapmap]
rs12587057	0.92[CEU][hapmap]
rs12885842	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1889731	0.92[CEU][hapmap];0.86[MEX][hapmap]
rs1953415	0.92[CEU][hapmap]
rs1953418	0.92[CEU][hapmap];0.84[AMR][1000 genomes]
rs1959144	0.88[CEU][hapmap];0.86[MEX][hapmap];0.81[AMR][1000 genomes]
rs1959145	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2064695	0.81[CEU][hapmap]
rs2092914	0.88[CEU][hapmap]
rs2149839	0.81[AMR][1000 genomes]
rs2183277	0.92[CEU][hapmap]
rs2184601	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2185454	0.83[AMR][1000 genomes]
rs2210805	0.96[CEU][hapmap];0.86[MEX][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2268956	0.92[CEU][hapmap];0.86[MEX][hapmap]
rs2411356	0.81[CEU][hapmap]
rs2411815	0.92[CEU][hapmap];0.91[GIH][hapmap];0.86[MEX][hapmap]
rs2411820	0.96[CEU][hapmap];0.82[AMR][1000 genomes]
rs2411823	0.85[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2898814	0.96[CEU][hapmap]
rs2898818	0.92[CEU][hapmap];0.81[AMR][1000 genomes]
rs3825639	0.92[CEU][hapmap];0.86[MEX][hapmap]
rs4359350	0.91[ASN][1000 genomes]
rs4587890	0.85[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4899178	0.91[ASN][1000 genomes]
rs4902399	0.92[CEU][hapmap];0.86[MEX][hapmap]
rs4902404	0.92[CEU][hapmap]
rs6573609	0.90[ASN][1000 genomes]
rs6573611	0.91[ASN][1000 genomes]
rs6573612	0.84[AMR][1000 genomes]
rs6573614	0.81[AMR][1000 genomes]
rs6573615	0.83[ASW][hapmap];0.80[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.85[ASN][1000 genomes]
rs6573616	0.92[CEU][hapmap];0.86[MEX][hapmap]
rs7140341	0.92[CEU][hapmap]
rs7140695	0.96[CEU][hapmap];0.91[GIH][hapmap];0.86[MEX][hapmap];0.84[AMR][1000 genomes]
rs7141536	0.96[CEU][hapmap];0.82[AMR][1000 genomes]
rs7142906	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7143318	0.83[AMR][1000 genomes]
rs7144415	0.85[AMR][1000 genomes]
rs7145500	0.83[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];0.91[YRI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7145759	0.96[CEU][hapmap];0.82[AMR][1000 genomes]
rs7146993	0.92[CEU][hapmap];0.86[MEX][hapmap]
rs7147002	0.92[CEU][hapmap]
rs7147536	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7147636	0.81[CEU][hapmap]
rs7150094	0.82[AMR][1000 genomes]
rs7150448	0.96[CEU][hapmap];0.83[AMR][1000 genomes]
rs7150648	0.90[AMR][1000 genomes]
rs7151561	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7157109	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7158153	0.95[CEU][hapmap]
rs8003464	0.82[AMR][1000 genomes]
rs8007497	0.92[CEU][hapmap]
rs8010726	0.96[CEU][hapmap];0.88[GIH][hapmap];0.86[MEX][hapmap];0.84[AMR][1000 genomes]
rs8011224	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8012834	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8013442	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8017880	0.81[AMR][1000 genomes]
rs8019762	0.92[CEU][hapmap]
rs8022053	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8022080	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9323460	0.81[AMR][1000 genomes]
rs9323461	0.92[CEU][hapmap]
rs9972106	0.81[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.90[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	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1999725	FUT8	cis	cerebellum	SCAN

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65880800-65904800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr14:65886600-65905600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr14:65888400-65905400	Weak transcription	Ovary	ovary
4	chr14:65891800-65904400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr14:65892800-65929600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr14:65893000-65917600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:65897000-65925600	Weak transcription	Aorta	Aorta
8	chr14:65898400-65935600	Weak transcription	Gastric	stomach
9	chr14:65899200-65913000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:65899600-65905200	Weak transcription	Psoas Muscle	Psoas
11	chr14:65899600-65909600	Weak transcription	Left Ventricle	heart
12	chr14:65899600-65929000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr14:65899800-65905000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr14:65899800-65905200	Weak transcription	Small Intestine	intestine
15	chr14:65899800-65906000	Weak transcription	Placenta	Placenta
16	chr14:65899800-65917600	Weak transcription	Thymus	Thymus
17	chr14:65900000-65917400	Weak transcription	Fetal Thymus	thymus
18	chr14:65900200-65912800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:65900400-65912800	Weak transcription	Brain Anterior Caudate	brain
20	chr14:65901000-65904400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr14:65901200-65905400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr14:65901200-65907400	Weak transcription	HSMM	muscle
23	chr14:65901200-65917800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:65901200-65920200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:65901400-65905800	Weak transcription	Brain Substantia Nigra	brain
26	chr14:65901400-65910800	Weak transcription	Osteobl	bone
27	chr14:65901800-65905200	Weak transcription	NH-A	brain
28	chr14:65901800-65917600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:65901800-65920200	Weak transcription	Brain Hippocampus Middle	brain
30	chr14:65902200-65927000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr14:65902400-65905000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr14:65902400-65928400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr14:65902800-65906000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr14:65903000-65904800	Weak transcription	Primary B cells from cord blood	blood
35	chr14:65903000-65904800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:65903000-65904800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:65903000-65905000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr14:65903000-65905000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr14:65903000-65905400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:65903000-65908400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr14:65903000-65910200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr14:65903000-65911600	Weak transcription	Fetal Intestine Large	intestine
43	chr14:65903000-65911600	Weak transcription	Fetal Intestine Small	intestine
44	chr14:65903000-65917800	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr14:65903200-65905000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr14:65903200-65917600	Weak transcription	Fetal Stomach	stomach
47	chr14:65903200-65922600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:65903200-65925200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr14:65903400-65904400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr14:65903400-65904400	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links