Variant report

Variant	rs4903638
Chromosome Location	chr14:78226111-78226112
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:78225974-78228288	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:78223413..78230716-chr14:78265065..78269735,15	MCF-7	breast:
2	chr14:78217096..78219959-chr14:78223868..78226613,3	K562	blood:
3	chr14:78003135..78004695-chr14:78224805..78226945,2	K562	blood:
4	chr14:78225549..78228360-chr14:78265163..78268062,4	K562	blood:

Variant related genes	Relation type
C14orf178	TF binding region
ENSG00000063761	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10134425	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10138747	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10139492	0.88[ASN][1000 genomes]
rs10143249	0.84[ASN][1000 genomes]
rs10143294	0.87[ASN][1000 genomes]
rs10144448	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10146255	0.98[ASN][1000 genomes]
rs10483885	0.90[ASN][1000 genomes]
rs114763	0.93[ASN][1000 genomes]
rs11621719	0.83[ASN][1000 genomes]
rs11622761	0.83[ASN][1000 genomes]
rs11624118	0.83[ASN][1000 genomes]
rs11846215	0.91[ASN][1000 genomes]
rs12879880	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12887313	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12890828	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1477263	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1477264	1.00[ASN][1000 genomes]
rs176941	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176947	0.87[ASN][1000 genomes]
rs176948	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176954	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176956	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176959	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs176961	0.93[ASN][1000 genomes]
rs176963	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs176964	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs176965	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs176968	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs176969	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs176970	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs176972	0.92[ASN][1000 genomes]
rs176975	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs176976	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs176977	0.90[ASN][1000 genomes]
rs2080703	0.87[ASN][1000 genomes]
rs2267756	0.87[ASN][1000 genomes]
rs2267762	0.86[ASN][1000 genomes]
rs2267763	0.87[ASN][1000 genomes]
rs2267764	0.87[ASN][1000 genomes]
rs2267766	0.87[AMR][1000 genomes]
rs2277917	1.00[ASN][1000 genomes]
rs2284233	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2284234	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2284235	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3783981	0.87[ASN][1000 genomes]
rs3783982	0.87[ASN][1000 genomes]
rs4641655	0.98[ASN][1000 genomes]
rs4899670	0.88[ASN][1000 genomes]
rs4899673	0.90[ASN][1000 genomes]
rs4899674	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61992867	0.80[ASN][1000 genomes]
rs61992868	0.80[ASN][1000 genomes]
rs6574392	0.97[ASN][1000 genomes]
rs6574394	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6574399	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7143926	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7145717	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7148078	0.98[ASN][1000 genomes]
rs7148126	0.87[ASN][1000 genomes]
rs7150531	0.96[ASN][1000 genomes]
rs7151685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154571	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7159310	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7160355	0.96[ASN][1000 genomes]
rs717682	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs759713	0.88[ASN][1000 genomes]
rs8010541	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8015645	0.87[ASN][1000 genomes]
rs8022516	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9323649	0.87[ASN][1000 genomes]
rs9323651	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer 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 miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv2754594	chr14:78222798-78275549	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78201600-78226600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:78214200-78226600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:78217000-78226600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:78218000-78226400	Weak transcription	Aorta	Aorta
5	chr14:78218200-78226400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:78218400-78226400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:78219800-78226400	Weak transcription	HSMM	muscle
8	chr14:78221400-78226400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:78221600-78226400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr14:78221600-78226600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr14:78221800-78226200	Genic enhancers	Primary T cells fromperipheralblood	blood
12	chr14:78222600-78226200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr14:78223000-78226600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr14:78223200-78226600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:78223400-78226200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr14:78223400-78226200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr14:78223600-78226200	Enhancers	Primary T cells from cord blood	blood
18	chr14:78223600-78226400	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr14:78223600-78226400	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr14:78223600-78226400	Enhancers	Adipose Nuclei	Adipose
21	chr14:78223800-78226200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr14:78223800-78226400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:78224000-78226200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr14:78224200-78226400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr14:78224600-78226400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr14:78224600-78226400	Enhancers	Psoas Muscle	Psoas
27	chr14:78224800-78226200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr14:78224800-78226200	Enhancers	Duodenum Mucosa	Duodenum
29	chr14:78224800-78226200	Enhancers	HepG2	liver
30	chr14:78224800-78226400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr14:78224800-78226400	Enhancers	Liver	Liver
32	chr14:78224800-78226400	Enhancers	Brain Substantia Nigra	brain
33	chr14:78224800-78226400	Genic enhancers	Fetal Stomach	stomach
34	chr14:78224800-78226400	Enhancers	Pancreas	Pancrea
35	chr14:78225000-78226200	Enhancers	Brain Hippocampus Middle	brain
36	chr14:78225000-78226200	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr14:78225000-78226400	Enhancers	Brain Anterior Caudate	brain
38	chr14:78225000-78226400	Enhancers	Fetal Heart	heart
39	chr14:78225000-78226400	Enhancers	Right Atrium	heart
40	chr14:78225200-78226200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr14:78225200-78226200	Enhancers	Fetal Brain Female	brain
42	chr14:78225200-78226200	Enhancers	Right Ventricle	heart
43	chr14:78225200-78226200	Enhancers	Spleen	Spleen
44	chr14:78225200-78226400	Enhancers	Brain Cingulate Gyrus	brain
45	chr14:78225200-78226400	Enhancers	Fetal Brain Male	brain
46	chr14:78225200-78226400	Enhancers	Gastric	stomach
47	chr14:78225200-78226400	Enhancers	Lung	lung
48	chr14:78225200-78226400	Enhancers	Ovary	ovary
49	chr14:78225200-78226400	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr14:78225200-78226400	Enhancers	Skeletal Muscle Male	skeletal muscle

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