Variant report

Variant	rs7617723
Chromosome Location	chr3:113034316-113034317
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11914580	0.88[ASN][1000 genomes]
rs11914782	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11919031	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11927007	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11929418	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1463641	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1463642	1.00[CEU][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16845107	0.82[CEU][hapmap];0.83[CHB][hapmap];0.88[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16860847	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16860861	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16860919	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3732807	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3732808	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3732810	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3912553	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4103250	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56794625	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57417572	0.83[AFR][1000 genomes]
rs57566915	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58918720	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59048818	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60079554	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60264945	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60487041	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60706093	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60874496	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61000519	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6438139	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6764524	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6780604	0.83[CHB][hapmap];0.93[JPT][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6792091	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6794923	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6795288	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6808878	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7429847	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7614678	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7618598	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7618941	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7621031	0.86[AFR][1000 genomes]
rs7621039	0.86[AFR][1000 genomes]
rs7621213	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7621337	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7622062	0.89[AFR][1000 genomes]
rs7622826	0.80[YRI][hapmap]
rs7622952	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7623213	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7624000	0.86[YRI][hapmap]
rs7627145	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7629899	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7632927	0.90[AFR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7634526	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7634713	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7636912	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7636986	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7640376	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7644337	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7648620	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7650500	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7650771	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv829677	chr3:112857075-113038987	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112990400-113036000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:112993800-113036000	Weak transcription	Right Ventricle	heart
3	chr3:112995400-113035800	Weak transcription	Lung	lung
4	chr3:112995800-113035800	Weak transcription	Thymus	Thymus
5	chr3:112996200-113034400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr3:112996400-113046400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr3:112997200-113036200	Weak transcription	Spleen	Spleen
8	chr3:112998600-113036000	Weak transcription	Gastric	stomach
9	chr3:113001200-113044600	Weak transcription	Fetal Kidney	kidney
10	chr3:113006200-113035400	Weak transcription	Esophagus	oesophagus
11	chr3:113006200-113036000	Weak transcription	Pancreas	Pancrea
12	chr3:113007000-113034400	Weak transcription	HSMM	muscle
13	chr3:113007200-113043400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:113008200-113035800	Weak transcription	Fetal Intestine Small	intestine
15	chr3:113010800-113034400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:113010800-113034400	Weak transcription	Fetal Lung	lung
17	chr3:113010800-113035800	Weak transcription	Ovary	ovary
18	chr3:113011000-113036000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr3:113013600-113034400	Weak transcription	A549	lung
20	chr3:113013600-113065200	Weak transcription	Left Ventricle	heart
21	chr3:113017800-113036000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr3:113020800-113041200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr3:113022600-113035800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr3:113023200-113034400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr3:113023400-113041600	Weak transcription	Brain Hippocampus Middle	brain
26	chr3:113024200-113038000	Weak transcription	Colonic Mucosa	Colon
27	chr3:113024600-113046600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr3:113024600-113081000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr3:113028600-113053400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr3:113030000-113036000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr3:113030600-113035200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:113031600-113035800	Weak transcription	Fetal Stomach	stomach
33	chr3:113032800-113035400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:113032800-113038600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:113033400-113034600	Strong transcription	Primary B cells from cord blood	blood
36	chr3:113033400-113035000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
37	chr3:113033800-113035200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:113034000-113034800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:113034000-113034800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
40	chr3:113034000-113035000	ZNF genes & repeats	Primary T cells from cord blood	blood
41	chr3:113034000-113035000	ZNF genes & repeats	Colon Smooth Muscle	Colon
42	chr3:113034000-113035000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
43	chr3:113034000-113035400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:113034000-113036600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:113034000-113037000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr3:113034200-113034800	ZNF genes & repeats	Liver	Liver
47	chr3:113034200-113035000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr3:113034200-113035000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr3:113034200-113037000	Strong transcription	Primary T helper cells fromperipheralblood	blood

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