Variant report

Variant	rs11144468
Chromosome Location	chr9:71565496-71565497
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10114872	0.91[GIH][hapmap];0.85[EUR][1000 genomes]
rs10115608	0.85[EUR][1000 genomes]
rs10117043	0.91[GIH][hapmap];0.82[EUR][1000 genomes]
rs10117188	0.85[EUR][1000 genomes]
rs10117198	0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10119540	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1056265	0.92[ASN][1000 genomes]
rs10746973	0.86[CHB][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10746974	0.80[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10746979	0.85[GIH][hapmap]
rs10781276	0.81[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10869578	0.85[EUR][1000 genomes]
rs10869599	0.85[EUR][1000 genomes]
rs10869623	0.80[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11144471	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11144474	0.82[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11144476	0.92[GIH][hapmap]
rs11144496	0.80[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11144510	0.80[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12349586	0.91[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57919809	0.88[EUR][1000 genomes]
rs62569165	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62569167	0.88[EUR][1000 genomes]
rs6560467	0.80[EUR][1000 genomes]
rs7018692	0.88[GIH][hapmap]
rs7022925	0.87[ASN][1000 genomes]
rs7040120	0.82[GIH][hapmap]
rs7041792	0.83[EUR][1000 genomes]
rs7852633	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7859638	0.95[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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
19	esv1833433	chr9:71544920-71598165	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71510400-71576200	Weak transcription	Stomach Mucosa	stomach
2	chr9:71519400-71573000	Weak transcription	Gastric	stomach
3	chr9:71535000-71569600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr9:71549200-71566200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr9:71549200-71570000	Weak transcription	Fetal Stomach	stomach
6	chr9:71549600-71569600	Weak transcription	Fetal Kidney	kidney
7	chr9:71553400-71567200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:71554400-71569600	Weak transcription	Aorta	Aorta
9	chr9:71556600-71566600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr9:71557400-71566400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr9:71557600-71578400	Weak transcription	HepG2	liver
12	chr9:71558000-71569200	Weak transcription	Right Ventricle	heart
13	chr9:71558200-71579200	Weak transcription	Colonic Mucosa	Colon
14	chr9:71558400-71566400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr9:71560600-71566400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr9:71561600-71566600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr9:71562000-71566600	Strong transcription	Fetal Intestine Small	intestine
18	chr9:71562400-71578000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr9:71562400-71579400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr9:71563000-71566800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:71563400-71567000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr9:71563400-71569600	Weak transcription	Brain Germinal Matrix	brain
23	chr9:71563400-71569600	Weak transcription	Spleen	Spleen
24	chr9:71563400-71578400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr9:71563800-71566400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr9:71563800-71566400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr9:71564000-71565600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr9:71564000-71567000	Enhancers	H1 Cell Line	embryonic stem cell
29	chr9:71564400-71565600	Enhancers	H9 Cell Line	embryonic stem cell
30	chr9:71564400-71566600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr9:71564400-71567200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:71564400-71567400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr9:71564600-71565600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr9:71564600-71570000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr9:71564800-71565600	Strong transcription	Fetal Intestine Large	intestine
36	chr9:71564800-71566200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr9:71565000-71565600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr9:71565000-71565600	Enhancers	Pancreas	Pancrea
39	chr9:71565000-71566600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr9:71565000-71566800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr9:71565000-71569600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr9:71565200-71565600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr9:71565200-71565600	Genic enhancers	Duodenum Mucosa	Duodenum
44	chr9:71565200-71565600	Enhancers	Left Ventricle	heart
45	chr9:71565200-71565600	Enhancers	Lung	lung
46	chr9:71565200-71565800	Enhancers	Fetal Heart	heart
47	chr9:71565200-71566200	Enhancers	GM12878-XiMat	blood
48	chr9:71565200-71566400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr9:71565200-71569000	Enhancers	Small Intestine	intestine
50	chr9:71565200-71569600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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