Variant report

Variant	rs11717706
Chromosome Location	chr3:110803204-110803205
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11919892	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13060876	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13061640	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13072462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13093206	0.81[AFR][1000 genomes]
rs1382075	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1462789	0.81[AFR][1000 genomes]
rs1462790	0.81[AFR][1000 genomes]
rs1462795	0.81[AFR][1000 genomes]
rs1477841	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1477842	0.82[AMR][1000 genomes]
rs1477843	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1477847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1477851	0.80[AFR][1000 genomes]
rs1477854	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1477855	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1547518	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1585629	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1600059	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1871026	0.93[AFR][1000 genomes]
rs1903755	0.81[AFR][1000 genomes]
rs2126710	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2126711	0.94[EUR][1000 genomes]
rs2126712	0.94[EUR][1000 genomes]
rs2126713	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2399373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2399375	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2895376	0.80[AFR][1000 genomes]
rs4102676	0.81[AFR][1000 genomes]
rs4682033	0.82[AFR][1000 genomes]
rs4682229	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4682230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4682231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4682234	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4682238	0.80[AFR][1000 genomes]
rs55774570	0.82[AFR][1000 genomes]
rs56668317	0.82[AFR][1000 genomes]
rs6437940	0.81[AFR][1000 genomes]
rs6437947	0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6437948	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6437952	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6437955	0.80[AMR][1000 genomes]
rs66803420	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs67209183	0.80[ASN][1000 genomes]
rs6765948	0.86[EUR][1000 genomes]
rs6781480	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6790828	0.85[AFR][1000 genomes]
rs7430600	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7612572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7612667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7623880	0.82[AFR][1000 genomes]
rs7632375	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7632388	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7653595	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9817950	0.83[AFR][1000 genomes]
rs9818950	0.94[EUR][1000 genomes]
rs9821335	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9826064	0.81[AFR][1000 genomes]
rs9828899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9837377	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9839674	0.81[AFR][1000 genomes]
rs9847598	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9866028	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9876350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9877855	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003106	chr3:110264476-111105943	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv1850918	chr3:110685181-110889974	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110792600-110803600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:110794200-110809200	Weak transcription	Fetal Brain Male	brain
3	chr3:110794400-110813600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:110794800-110804600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:110794800-110805200	Enhancers	Dnd41	blood
6	chr3:110796000-110804600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr3:110796200-110806800	Weak transcription	Small Intestine	intestine
8	chr3:110796600-110803600	Weak transcription	HepG2	liver
9	chr3:110798800-110803600	Weak transcription	Fetal Intestine Large	intestine
10	chr3:110799000-110807000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:110799000-110807000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:110799800-110820600	Weak transcription	A549	lung
13	chr3:110800000-110803600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:110800000-110804200	Weak transcription	Stomach Mucosa	stomach
15	chr3:110800200-110803800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr3:110800200-110812400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:110800200-110817200	Weak transcription	Gastric	stomach
18	chr3:110800400-110803800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr3:110800400-110804200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr3:110800600-110803400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr3:110800600-110803800	Weak transcription	Osteobl	bone
22	chr3:110800800-110803600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr3:110800800-110803800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr3:110800800-110804400	Weak transcription	Colon Smooth Muscle	Colon
25	chr3:110801000-110803800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:110801000-110803800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr3:110801000-110804200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:110801000-110804600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:110801200-110803400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr3:110801200-110803800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr3:110801200-110803800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:110801200-110804400	Weak transcription	Fetal Lung	lung
33	chr3:110801800-110804600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:110802000-110822600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr3:110802200-110803400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr3:110802400-110806600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr3:110802400-110806600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:110802600-110803800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr3:110802600-110803800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr3:110802800-110804400	Enhancers	NHDF-Ad	bronchial
41	chr3:110802800-110804600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr3:110802800-110805600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr3:110802800-110806800	Weak transcription	Ovary	ovary
44	chr3:110803200-110804400	Enhancers	Liver	Liver
45	chr3:110803200-110805600	Enhancers	Fetal Intestine Small	intestine

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