Variant report

Variant	rs11143975
Chromosome Location	chr9:71454879-71454880
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10114785	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10117744	0.86[CHB][hapmap]
rs10117789	0.88[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10119445	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10121974	0.88[CHB][hapmap];0.84[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10124098	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10869538	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs11143755	1.00[EUR][1000 genomes]
rs11143976	1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11143977	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12336702	0.86[EUR][1000 genomes]
rs12336788	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12336829	0.82[ASN][1000 genomes]
rs12337137	0.88[JPT][hapmap];0.81[AMR][1000 genomes]
rs12338217	0.88[JPT][hapmap];0.81[AMR][1000 genomes]
rs12341382	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12341508	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12341625	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12345359	0.88[JPT][hapmap]
rs12348451	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs12349647	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs12350205	0.88[JPT][hapmap];0.81[AMR][1000 genomes]
rs12351476	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs12351485	0.84[CHB][hapmap]
rs12351519	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs12352746	0.88[CHB][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes]
rs1414945	1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2027023	1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2039624	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28375745	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28406181	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28444745	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3750375	0.88[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes]
rs3750376	0.88[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes]
rs3763607	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs3829061	0.88[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes]
rs4237272	0.88[JPT][hapmap]
rs56994943	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58984094	1.00[EUR][1000 genomes]
rs61453631	0.86[EUR][1000 genomes]
rs61547334	0.81[AMR][1000 genomes]
rs6560418	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7018854	0.86[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs7021259	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7024959	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7027620	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7035068	1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7037674	0.88[JPT][hapmap];0.82[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7041194	0.81[AMR][1000 genomes]
rs7046642	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7047250	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs7048275	1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73646761	1.00[EUR][1000 genomes]
rs7847379	0.88[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes]
rs7849727	1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7851905	0.88[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7852244	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7855274	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7859396	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7863960	0.88[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes]
rs7865800	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7869689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7870383	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7875472	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs953036	0.88[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv6548	chr9:71429527-71470917	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	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
14	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

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71435800-71464800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:71438000-71491200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr9:71439200-71456000	Weak transcription	GM12878-XiMat	blood
4	chr9:71440600-71466600	Weak transcription	Gastric	stomach
5	chr9:71441000-71478600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr9:71441600-71459800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr9:71443600-71458600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr9:71443600-71459000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr9:71445600-71458600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr9:71448200-71485600	Weak transcription	Stomach Mucosa	stomach
11	chr9:71448800-71455800	Weak transcription	Aorta	Aorta
12	chr9:71449200-71459200	Weak transcription	Primary B cells from cord blood	blood
13	chr9:71449800-71456800	Weak transcription	Fetal Intestine Small	intestine
14	chr9:71451600-71455000	Enhancers	Fetal Heart	heart
15	chr9:71452000-71458400	Weak transcription	Spleen	Spleen
16	chr9:71452200-71456400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr9:71452200-71456800	Weak transcription	Right Atrium	heart
18	chr9:71452200-71456800	Weak transcription	Right Ventricle	heart
19	chr9:71452200-71458000	Weak transcription	Lung	lung
20	chr9:71453200-71456000	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr9:71453800-71458600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:71454400-71455600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr9:71454400-71456000	Strong transcription	Fetal Intestine Large	intestine
24	chr9:71454600-71455800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr9:71454800-71456800	Weak transcription	Left Ventricle	heart

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