Variant report

Variant	rs34706911
Chromosome Location	chr14:56102019-56102020
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:56101889..56105853-chr14:56107857..56111727,3	K562	blood:
2	chr14:56096758..56098924-chr14:56100584..56102581,2	K562	blood:
3	chr14:56100197..56102533-chr14:56115487..56117359,2	K562	blood:

Variant related genes	Relation type
ENSG00000126777	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10146870	0.90[EUR][1000 genomes]
rs10444721	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10483644	0.95[ASN][1000 genomes]
rs10483649	0.81[ASN][1000 genomes]
rs10483651	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12432344	0.86[ASN][1000 genomes]
rs12432887	0.94[ASN][1000 genomes]
rs12433592	0.80[ASN][1000 genomes]
rs12434609	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12434624	0.94[ASN][1000 genomes]
rs12434660	0.93[ASN][1000 genomes]
rs12434799	0.81[ASN][1000 genomes]
rs12435643	0.91[ASN][1000 genomes]
rs12587700	0.92[ASN][1000 genomes]
rs12587705	0.91[ASN][1000 genomes]
rs12587735	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12588172	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12588185	0.85[ASN][1000 genomes]
rs12589864	0.91[ASN][1000 genomes]
rs12590388	0.90[ASN][1000 genomes]
rs12590936	0.90[ASN][1000 genomes]
rs12882850	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12885864	0.92[ASN][1000 genomes]
rs12888809	0.92[ASN][1000 genomes]
rs12891129	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12891526	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12893162	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12895070	0.80[ASN][1000 genomes]
rs12895366	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12897227	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17128655	0.81[ASN][1000 genomes]
rs17128657	0.94[ASN][1000 genomes]
rs17128677	0.91[ASN][1000 genomes]
rs17128684	0.92[ASN][1000 genomes]
rs17128690	0.92[ASN][1000 genomes]
rs17253737	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17684916	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17684959	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17685650	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1951887	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951889	0.95[ASN][1000 genomes]
rs2093800	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2252189	0.90[ASN][1000 genomes]
rs2274076	0.95[ASN][1000 genomes]
rs2274078	0.94[ASN][1000 genomes]
rs2274079	0.94[ASN][1000 genomes]
rs2296183	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28458791	0.91[ASN][1000 genomes]
rs28581272	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28703642	0.90[ASN][1000 genomes]
rs34023572	0.87[ASN][1000 genomes]
rs34111199	0.95[ASN][1000 genomes]
rs34133022	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34184813	0.81[ASN][1000 genomes]
rs34408323	0.95[ASN][1000 genomes]
rs34548095	0.92[ASN][1000 genomes]
rs34697059	0.92[ASN][1000 genomes]
rs34709110	0.92[ASN][1000 genomes]
rs34853759	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34982220	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35094494	0.92[ASN][1000 genomes]
rs35535838	0.90[ASN][1000 genomes]
rs35560341	0.80[ASN][1000 genomes]
rs4457912	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55927221	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56229542	0.87[ASN][1000 genomes]
rs60233569	0.92[ASN][1000 genomes]
rs61381603	0.80[ASN][1000 genomes]
rs6573051	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6573053	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6573054	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs68127620	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7150285	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7154548	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7156566	0.95[ASN][1000 genomes]
rs7158176	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72719463	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8003149	0.91[ASN][1000 genomes]
rs8006443	0.81[ASN][1000 genomes]
rs8007183	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8007832	0.87[EUR][1000 genomes]
rs8008764	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8011252	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8015588	0.92[ASN][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	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56078600-56148600	Weak transcription	Stomach Mucosa	stomach
2	chr14:56079800-56111400	Strong transcription	Rectal Mucosa Donor 29	rectum
3	chr14:56080800-56110800	Strong transcription	Primary T helper cells PMA-I stimulated	--
4	chr14:56087400-56111800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr14:56087400-56112200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:56087400-56132200	Strong transcription	Dnd41	blood
7	chr14:56087600-56107400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr14:56087600-56110000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:56087600-56145200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:56088000-56103600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:56088200-56104000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr14:56088200-56108600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr14:56088200-56129400	Weak transcription	Spleen	Spleen
14	chr14:56088200-56132200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:56088400-56103600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr14:56088400-56121600	Weak transcription	Aorta	Aorta
17	chr14:56088400-56121800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:56088400-56153200	Weak transcription	Gastric	stomach
19	chr14:56088600-56103600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr14:56090800-56107000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr14:56091200-56104800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:56092800-56135400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:56093200-56110000	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr14:56093400-56102600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr14:56093400-56105000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:56093400-56107600	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr14:56093800-56104400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:56093800-56110000	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr14:56094200-56102800	Weak transcription	K562	blood
30	chr14:56094200-56110000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:56094200-56110200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:56094400-56105000	Strong transcription	Adipose Nuclei	Adipose
33	chr14:56094400-56108000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr14:56094400-56109800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:56094400-56113000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr14:56094400-56132600	Strong transcription	HSMM	muscle
37	chr14:56094600-56110000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr14:56094600-56110200	Strong transcription	Liver	Liver
39	chr14:56095000-56103000	Weak transcription	Brain Substantia Nigra	brain
40	chr14:56095000-56142200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr14:56096200-56103800	Strong transcription	NHEK	skin
42	chr14:56096200-56112000	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr14:56096600-56109400	Strong transcription	GM12878-XiMat	blood
44	chr14:56097000-56105000	Strong transcription	HepG2	liver
45	chr14:56097200-56103200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr14:56097400-56103000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr14:56097600-56102800	Weak transcription	NHLF	lung
48	chr14:56097600-56115600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr14:56097600-56145200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr14:56097600-56155400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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