Variant report

Variant	rs10121993
Chromosome Location	chr9:71328378-71328379
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10217316	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10746919	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10781117	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10781119	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10781142	0.87[MEX][hapmap];0.84[TSI][hapmap];0.82[AMR][1000 genomes]
rs10869225	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10869245	0.89[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs2151416	0.82[ASN][1000 genomes]
rs2151417	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2151418	0.83[CHB][hapmap];0.93[CHD][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs2184117	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4352908	0.84[ASN][1000 genomes]
rs4534183	0.83[CHB][hapmap];0.93[CHD][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs4744680	0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4744683	0.83[CHB][hapmap];0.93[CHD][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs4744685	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4745223	0.89[CHB][hapmap];0.93[CHD][hapmap];0.84[JPT][hapmap];0.83[MEX][hapmap];0.83[ASN][1000 genomes]
rs4745227	0.89[CHB][hapmap];0.93[CHD][hapmap];0.84[JPT][hapmap];0.83[MEX][hapmap];0.84[ASN][1000 genomes]
rs4745228	0.83[CHB][hapmap]
rs4745229	0.84[ASN][1000 genomes]
rs4745230	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6560316	0.90[ASW][hapmap];0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.83[MEX][hapmap];0.80[TSI][hapmap];0.84[YRI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7021661	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7853748	0.89[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];0.84[JPT][hapmap];0.88[MEX][hapmap];0.85[ASN][1000 genomes]
rs7857057	0.89[CHB][hapmap];0.93[CHD][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs963707	0.82[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026962	chr9:71130848-71357605	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers 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
3	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
4	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
5	esv2757339	chr9:71291107-71353743	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2759693	chr9:71291107-71353743	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv2752385	chr9:71304465-71332240	Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71321800-71329200	Weak transcription	Gastric	stomach
2	chr9:71321800-71329400	Weak transcription	Lung	lung
3	chr9:71322000-71329800	Weak transcription	Pancreas	Pancrea
4	chr9:71322000-71349400	Weak transcription	Aorta	Aorta
5	chr9:71322200-71329400	Weak transcription	Left Ventricle	heart
6	chr9:71322200-71335000	Weak transcription	Placenta	Placenta
7	chr9:71322600-71329600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr9:71322600-71329800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr9:71322800-71333400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr9:71323400-71331800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr9:71323600-71335800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr9:71324000-71329200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr9:71324400-71329400	Weak transcription	Colonic Mucosa	Colon
14	chr9:71324400-71346400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr9:71324600-71329200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr9:71325200-71328800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr9:71325200-71332200	Strong transcription	Primary B cells from cord blood	blood
18	chr9:71325600-71329800	Weak transcription	Right Atrium	heart
19	chr9:71325800-71329400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr9:71325800-71329400	Weak transcription	GM12878-XiMat	blood
21	chr9:71326200-71329000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr9:71326200-71329200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr9:71326400-71329400	Weak transcription	K562	blood
24	chr9:71326400-71333400	Weak transcription	Brain Germinal Matrix	brain
25	chr9:71326800-71330400	Strong transcription	Primary B cells from peripheral blood	blood
26	chr9:71327000-71329400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr9:71327400-71329200	Enhancers	Stomach Mucosa	stomach
28	chr9:71327400-71329400	Weak transcription	Right Ventricle	heart
29	chr9:71327400-71332400	Weak transcription	HepG2	liver
30	chr9:71327400-71333200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr9:71327600-71328400	Weak transcription	Fetal Intestine Large	intestine
32	chr9:71327600-71328800	Weak transcription	Fetal Heart	heart
33	chr9:71328000-71332000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:71328200-71328400	Weak transcription	Fetal Intestine Small	intestine
35	chr9:71328200-71337600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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