Variant report

Variant	rs12886340
Chromosome Location	chr14:35430698-35430699
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35430162..35434482-chr14:35434976..35439153,5	K562	blood:

Extended variants
information (count: 123 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10130702	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10130877	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10130911	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10132452	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10133628	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10135024	0.93[ASN][1000 genomes]
rs10135457	0.93[ASN][1000 genomes]
rs10135654	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10143040	0.93[ASN][1000 genomes]
rs10143749	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10145490	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10147046	0.93[ASN][1000 genomes]
rs10148463	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10149083	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10151096	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10151445	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1028447	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12050394	0.81[ASN][1000 genomes]
rs12433712	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12434719	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12437158	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12586945	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12589238	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12590905	0.93[ASN][1000 genomes]
rs12878315	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12878685	0.93[ASN][1000 genomes]
rs12878970	0.92[ASN][1000 genomes]
rs12881501	0.83[ASN][1000 genomes]
rs12882728	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12887073	0.93[ASN][1000 genomes]
rs12887279	0.93[ASN][1000 genomes]
rs12891283	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12891473	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs17102982	0.93[ASN][1000 genomes]
rs1955437	0.91[ASN][1000 genomes]
rs2250579	0.93[ASN][1000 genomes]
rs2273155	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2383691	0.93[ASN][1000 genomes]
rs2383692	0.93[ASN][1000 genomes]
rs2383694	0.93[ASN][1000 genomes]
rs28373866	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs28479817	0.86[ASN][1000 genomes]
rs28627922	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs28656938	0.90[ASN][1000 genomes]
rs34793309	0.91[ASN][1000 genomes]
rs35523754	0.89[ASN][1000 genomes]
rs35768136	0.86[ASN][1000 genomes]
rs3759549	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4386037	0.93[ASN][1000 genomes]
rs4981256	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4981257	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4982231	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4982232	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs55670220	0.93[ASN][1000 genomes]
rs57787567	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6571691	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7144898	0.93[ASN][1000 genomes]
rs7147346	0.93[ASN][1000 genomes]
rs7154181	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7158547	0.92[ASN][1000 genomes]
rs7159696	0.93[ASN][1000 genomes]
rs72474105	0.88[ASN][1000 genomes]
rs8004237	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8005641	0.91[ASN][1000 genomes]
rs8006578	0.93[ASN][1000 genomes]
rs8006908	0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs8009854	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs8012308	0.93[ASN][1000 genomes]
rs8015059	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8015200	0.93[ASN][1000 genomes]
rs8017611	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs8018702	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs8018761	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs8020050	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs8021502	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs9322942	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052162	chr14:35245349-35451187	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv1053722	chr14:35257458-35465784	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
3	nsv1045939	chr14:35311074-35494703	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv456203	chr14:35311272-35512335	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv564200	chr14:35311272-35512335	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
6	nsv901602	chr14:35367889-35571651	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv901603	chr14:35371697-35435651	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
9	nsv901604	chr14:35381137-35485748	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv1043470	chr14:35398522-35754029	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
11	nsv542031	chr14:35398522-35754029	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS 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	65 gene(s)	inside rSNPs	diseases
12	nsv1035925	chr14:35404661-35483420	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
13	nsv901605	chr14:35409214-35512335	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
14	esv3528296	chr14:35428422-35432813	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	esv3528285	chr14:35428676-35432621	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv3528262	chr14:35428723-35432537	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	esv3528273	chr14:35428738-35432582	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	esv3528251	chr14:35428761-35432556	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	esv3528307	chr14:35428761-35432556	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	nsv9134	chr14:35428785-35432893	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	esv19507	chr14:35428820-35431214	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	esv1791752	chr14:35428892-35430750	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	nsv564211	chr14:35428892-35430750	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
24	esv1792813	chr14:35428892-35430858	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
25	esv1795415	chr14:35428892-35430858	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
26	esv1799843	chr14:35428892-35430858	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
27	esv1800574	chr14:35428892-35430858	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
28	esv1800811	chr14:35428892-35430858	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
29	nsv564212	chr14:35428892-35430858	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
30	nsv564213	chr14:35428892-35430921	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
31	nsv564214	chr14:35428892-35431147	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
32	esv1792223	chr14:35428892-35433187	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
33	esv1796704	chr14:35428892-35433187	Strong transcription Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
34	esv1803671	chr14:35428892-35433187	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
35	nsv564219	chr14:35428943-35430750	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
36	nsv564220	chr14:35428943-35430858	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
37	nsv564224	chr14:35428994-35430858	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
38	nsv564231	chr14:35429047-35430750	Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
39	nsv564232	chr14:35429047-35431147	Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
40	nsv564253	chr14:35429252-35430858	Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
41	nsv564254	chr14:35429252-35430921	Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
42	nsv564256	chr14:35429482-35430806	Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
43	nsv564258	chr14:35429880-35431147	Strong transcription Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
44	nsv564259	chr14:35429987-35431088	Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
45	nsv564260	chr14:35430168-35430858	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
46	nsv564261	chr14:35430304-35431026	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
47	nsv564262	chr14:35430408-35431147	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12886340	FAM177A1	cis	Whole Blood	GTEx

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35401000-35440400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr14:35411000-35434600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr14:35411800-35450000	Weak transcription	Brain Angular Gyrus	brain
4	chr14:35413200-35435200	Weak transcription	A549	lung
5	chr14:35413400-35449600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:35413600-35435000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr14:35414000-35435200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr14:35417400-35449400	Weak transcription	Dnd41	blood
9	chr14:35417600-35433600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr14:35417800-35436800	Weak transcription	Osteobl	bone
11	chr14:35417800-35438200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:35417800-35439200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:35418000-35450600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:35418200-35446000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:35418800-35449600	Weak transcription	Placenta	Placenta
16	chr14:35419000-35445000	Weak transcription	Pancreas	Pancrea
17	chr14:35419200-35430800	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr14:35419400-35435000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr14:35419600-35434000	Weak transcription	K562	blood
20	chr14:35419600-35437000	Weak transcription	Left Ventricle	heart
21	chr14:35419600-35449600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:35419800-35435000	Weak transcription	NH-A	brain
23	chr14:35419800-35449600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr14:35420000-35440000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:35420000-35441200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr14:35420000-35450000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:35420000-35450000	Weak transcription	Small Intestine	intestine
28	chr14:35420400-35450200	Weak transcription	Colon Smooth Muscle	Colon
29	chr14:35420800-35440600	Weak transcription	HSMMtube	muscle
30	chr14:35420800-35440600	Weak transcription	NHDF-Ad	bronchial
31	chr14:35421000-35431400	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr14:35421000-35437400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:35421200-35440600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr14:35421200-35449600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr14:35421200-35449600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr14:35421800-35450600	Weak transcription	Esophagus	oesophagus
37	chr14:35422000-35450000	Weak transcription	Brain Substantia Nigra	brain
38	chr14:35423800-35435000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr14:35423800-35443800	Weak transcription	Brain Hippocampus Middle	brain
40	chr14:35423800-35450000	Weak transcription	Colonic Mucosa	Colon
41	chr14:35424000-35437400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr14:35424000-35440600	Weak transcription	NHEK	skin
43	chr14:35424000-35441000	Weak transcription	NHLF	lung
44	chr14:35424000-35449600	Weak transcription	Brain Germinal Matrix	brain
45	chr14:35424000-35449600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr14:35424200-35434400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr14:35424400-35437400	Weak transcription	Fetal Lung	lung
48	chr14:35424800-35432200	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr14:35425200-35441000	Weak transcription	Psoas Muscle	Psoas
50	chr14:35425800-35431200	Weak transcription	Rectal Mucosa Donor 29	rectum

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