Variant report

Variant	rs10781264
Chromosome Location	chr9:71519136-71519137
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10115871	0.82[JPT][hapmap]
rs10124169	0.80[CEU][hapmap]
rs10746969	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10781265	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10781283	0.85[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.87[AMR][1000 genomes]
rs10781286	0.89[AMR][1000 genomes]
rs10781293	0.90[CEU][hapmap];0.84[AMR][1000 genomes]
rs10869365	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs10869396	0.81[CHD][hapmap];0.91[JPT][hapmap]
rs10869403	0.85[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs10869419	0.81[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap]
rs10869420	0.81[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10869432	0.81[ASN][1000 genomes]
rs10869487	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10869541	0.95[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10869543	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10869572	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10869574	0.85[CEU][hapmap]
rs10869610	0.80[CEU][hapmap]
rs11143802	0.80[CEU][hapmap]
rs11144021	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs11144035	0.81[ASN][1000 genomes]
rs11144476	0.85[CEU][hapmap];0.93[MEX][hapmap]
rs12352694	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13284709	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs1414947	0.90[ASN][1000 genomes]
rs1414949	0.95[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs2027205	0.90[CEU][hapmap];0.91[AMR][1000 genomes]
rs2152649	0.88[ASW][hapmap];0.90[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.91[AMR][1000 genomes]
rs4145885	0.94[JPT][hapmap]
rs4237270	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.96[ASN][1000 genomes]
rs4745295	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs4745327	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs4745328	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs4745353	0.88[ASN][1000 genomes]
rs4745360	0.90[ASN][1000 genomes]
rs4745366	0.97[ASN][1000 genomes]
rs4745451	0.80[CEU][hapmap]
rs6560419	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[ASN][1000 genomes]
rs6560420	0.85[CEU][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes]
rs6560444	0.85[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.87[AMR][1000 genomes]
rs7018692	0.85[CEU][hapmap];0.93[MEX][hapmap];0.81[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7021212	0.90[CEU][hapmap];0.89[AMR][1000 genomes]
rs7022925	0.81[EUR][1000 genomes]
rs7031059	0.80[CEU][hapmap]
rs7031640	0.85[JPT][hapmap]
rs7033278	0.83[JPT][hapmap]
rs7043242	1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs7043868	0.97[ASN][1000 genomes]
rs756326	0.81[AMR][1000 genomes]
rs7851923	0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7852633	0.80[CEU][hapmap]
rs7853501	0.95[CEU][hapmap];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7864097	0.91[JPT][hapmap]
rs7867240	0.95[CEU][hapmap];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7874714	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs883952	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[ASN][1000 genomes]
rs944856	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs952589	0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1051723	chr9:71398713-71971285	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1053402	chr9:71399722-71819949	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv540146	chr9:71399722-71819949	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1043689	chr9:71399922-71800338	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv540147	chr9:71399922-71800338	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS 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	27 gene(s)	inside rSNPs	diseases
8	nsv1047540	chr9:71401918-71803639	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer 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
9	nsv931684	chr9:71417110-71957723	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv1049175	chr9:71418242-71986910	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv466393	chr9:71453443-71704827	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv614547	chr9:71453443-71704827	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv1035823	chr9:71465139-71901672	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription 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	26 gene(s)	inside rSNPs	diseases
14	nsv466396	chr9:71471912-71935577	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
15	nsv614548	chr9:71471912-71935577	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
16	nsv614549	chr9:71506459-71659280	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv1051798	chr9:71511805-71792032	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
18	nsv1035477	chr9:71511927-71959487	Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10781264	FAM108B1	cis	cerebellum	SCAN
rs10781264	PGM5	cis	cerebellum	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71459000-71519200	Weak transcription	Colonic Mucosa	Colon
2	chr9:71510400-71576200	Weak transcription	Stomach Mucosa	stomach
3	chr9:71510600-71532400	Weak transcription	Small Intestine	intestine
4	chr9:71510800-71519800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr9:71511200-71519200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:71511600-71519800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr9:71511800-71519200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr9:71512000-71519800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr9:71512000-71520000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr9:71512200-71548800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr9:71512400-71520200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr9:71512800-71520200	Weak transcription	Primary T cells from cord blood	blood
13	chr9:71512800-71527600	Weak transcription	Pancreas	Pancrea
14	chr9:71513000-71520000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr9:71513800-71519200	Weak transcription	Gastric	stomach
16	chr9:71514000-71532000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr9:71514200-71520000	Weak transcription	Fetal Intestine Small	intestine
18	chr9:71514200-71528600	Weak transcription	Left Ventricle	heart
19	chr9:71514200-71553600	Weak transcription	Aorta	Aorta
20	chr9:71514200-71557800	Weak transcription	Lung	lung
21	chr9:71514400-71532000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr9:71515000-71519800	Weak transcription	Right Atrium	heart
23	chr9:71515200-71521200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr9:71515600-71525200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:71516200-71527600	Weak transcription	GM12878-XiMat	blood
26	chr9:71517000-71519200	Strong transcription	Primary B cells from cord blood	blood
27	chr9:71517400-71532400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr9:71518400-71520400	Enhancers	Fetal Heart	heart
29	chr9:71518400-71522200	Strong transcription	Fetal Intestine Large	intestine
30	chr9:71518600-71527600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr9:71518800-71520000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr9:71519000-71519400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr9:71519000-71519400	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr9:71519000-71519800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr9:71519000-71519800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr9:71519000-71520200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr9:71519000-71520600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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