Variant report

Variant	rs26307
Chromosome Location	chr5:14705665-14705666
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	chr5:14704921..14709594-chr5:14711258..14715329,5	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs13189930	0.87[JPT][hapmap];0.96[TSI][hapmap];0.90[EUR][1000 genomes]
rs149493	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs149617	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs152788	0.94[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.96[TSI][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs153829	1.00[JPT][hapmap]
rs153830	1.00[JPT][hapmap]
rs1875513	0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2455402	1.00[JPT][hapmap]
rs250439	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs250440	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs258290	0.93[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs258374	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs25942	0.85[YRI][hapmap]
rs25943	0.90[YRI][hapmap]
rs25945	0.83[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs25951	0.83[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs25952	0.83[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs25983	0.86[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap];0.83[YRI][hapmap];0.90[EUR][1000 genomes]
rs25986	0.93[JPT][hapmap]
rs25987	0.93[JPT][hapmap]
rs25988	0.93[JPT][hapmap]
rs25992	0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs27356	0.93[CEU][hapmap];0.83[CHB][hapmap];0.84[GIH][hapmap];0.87[JPT][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs27882	0.83[ASN][1000 genomes]
rs27911	0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs28004	0.83[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs31919	0.84[ASN][1000 genomes]
rs31920	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs31921	0.83[ASN][1000 genomes]
rs31922	0.93[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs31923	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs31925	0.94[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs31926	0.83[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs31928	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs31929	0.83[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.83[ASN][1000 genomes]
rs31930	0.83[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs31968	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3853119	0.86[ASN][1000 genomes]
rs3866215	0.90[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs40578	0.84[ASN][1000 genomes]
rs42358	0.83[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs42410	0.83[ASN][1000 genomes]
rs42681	0.83[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs456180	1.00[JPT][hapmap]
rs466880	1.00[JPT][hapmap]
rs4702043	0.84[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.96[TSI][hapmap];0.80[YRI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6554856	1.00[JPT][hapmap]
rs6872954	0.87[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs745328	0.93[JPT][hapmap]
rs95492	0.93[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs26307	FAM105B	Cis_1M	lymphoblastoid	RTeQTL
rs26307	DNAH5	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14674000-14712800	Strong transcription	Fetal Intestine Large	intestine
2	chr5:14684600-14726200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:14690800-14706000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:14690800-14710600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:14690800-14717200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:14691000-14711000	Weak transcription	Fetal Brain Male	brain
7	chr5:14691000-14711200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:14691000-14712800	Strong transcription	Hela-S3	cervix
9	chr5:14691000-14722200	Weak transcription	Stomach Mucosa	stomach
10	chr5:14691200-14720400	Weak transcription	Psoas Muscle	Psoas
11	chr5:14691600-14715000	Strong transcription	GM12878-XiMat	blood
12	chr5:14693400-14707600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:14694000-14717800	Weak transcription	Fetal Kidney	kidney
14	chr5:14694400-14706200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr5:14694600-14706800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:14696600-14717800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr5:14696600-14727600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:14696800-14711200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:14696800-14718600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr5:14697000-14712800	Strong transcription	Fetal Intestine Small	intestine
21	chr5:14697400-14706000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr5:14698600-14706000	Weak transcription	HUVEC	blood vessel
23	chr5:14699000-14706400	Weak transcription	NH-A	brain
24	chr5:14699600-14712600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr5:14699800-14706400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr5:14699800-14706800	Weak transcription	Brain Angular Gyrus	brain
27	chr5:14700000-14709400	Weak transcription	Ovary	ovary
28	chr5:14700000-14710000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr5:14700000-14711200	Weak transcription	Colon Smooth Muscle	Colon
30	chr5:14700000-14723800	Weak transcription	Small Intestine	intestine
31	chr5:14700200-14706600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr5:14700200-14706600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr5:14700200-14706800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr5:14700200-14709600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr5:14700200-14712000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:14700400-14708600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:14700600-14707000	Weak transcription	Gastric	stomach
38	chr5:14700800-14706800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:14700800-14709800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr5:14701000-14706600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr5:14701000-14707600	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr5:14701000-14710400	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr5:14701200-14705800	Strong transcription	Adipose Nuclei	Adipose
44	chr5:14701200-14706000	Weak transcription	NHDF-Ad	bronchial
45	chr5:14701200-14706600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr5:14701200-14706800	Weak transcription	Brain Substantia Nigra	brain
47	chr5:14701400-14716000	Strong transcription	Fetal Stomach	stomach
48	chr5:14701400-14717000	Strong transcription	Stomach Smooth Muscle	stomach
49	chr5:14701600-14706800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr5:14701600-14707200	Strong transcription	Cortex derived primary cultured neurospheres	brain

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