Variant report

Variant	rs1718944
Chromosome Location	chr7:112491416-112491417
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112490671..112492879-chr7:112499441..112501891,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10273589	1.00[JPT][hapmap]
rs1227163	1.00[JPT][hapmap]
rs1227171	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs1227174	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs1227181	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs1227190	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs1238698	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs12535487	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12539085	1.00[JPT][hapmap]
rs1533851	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1547554	0.82[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1718948	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1718961	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1718967	0.82[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1796492	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs1796493	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs1796512	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1796516	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs1996843	0.82[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2396573	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2396574	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs2687267	0.82[CEU][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2708295	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2708296	1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3997335	1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3997336	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs494324	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs548994	0.85[YRI][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs549688	0.85[JPT][hapmap];0.89[YRI][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs552304	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs564494	0.81[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs565641	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58858661	0.92[EUR][1000 genomes]
rs62472532	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6466421	1.00[JPT][hapmap]
rs660743	0.95[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap]
rs672911	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs685259	1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6948575	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6953522	1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6967716	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs726593	0.82[JPT][hapmap]
rs7777973	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs7785774	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7803405	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs821782	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs821783	1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs821785	0.81[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs821787	0.81[CEU][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9969347	1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers 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 miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv2752144	chr7:112398372-112499924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv2752145	chr7:112434049-112500049	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv1034863	chr7:112434413-112504160	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv5905	chr7:112445425-112521797	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
7	esv2754368	chr7:112483049-112588049	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112468600-112550000	Weak transcription	Aorta	Aorta
2	chr7:112469800-112529000	Weak transcription	Brain Anterior Caudate	brain
3	chr7:112470800-112493000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:112470800-112498000	Weak transcription	Fetal Kidney	kidney
5	chr7:112470800-112502800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:112470800-112506800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:112470800-112533200	Weak transcription	HSMM	muscle
8	chr7:112471800-112495400	Weak transcription	Left Ventricle	heart
9	chr7:112471800-112502000	Weak transcription	Fetal Stomach	stomach
10	chr7:112471800-112511200	Weak transcription	HSMMtube	muscle
11	chr7:112471800-112545200	Weak transcription	Ovary	ovary
12	chr7:112472000-112491600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr7:112472000-112492200	Weak transcription	Fetal Lung	lung
14	chr7:112472000-112497800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:112472000-112506400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:112472000-112524600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:112472200-112493400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:112472200-112513200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:112472200-112517800	Weak transcription	Osteobl	bone
20	chr7:112472600-112503200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:112472600-112533200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:112472800-112505400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr7:112478400-112506400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr7:112479200-112492000	Weak transcription	Primary B cells from cord blood	blood
25	chr7:112479600-112493600	Weak transcription	Primary T cells from cord blood	blood
26	chr7:112483200-112493600	Weak transcription	Small Intestine	intestine
27	chr7:112486200-112506400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr7:112486800-112493400	Weak transcription	Fetal Heart	heart
29	chr7:112487200-112503000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:112488200-112492400	Weak transcription	Fetal Intestine Large	intestine
31	chr7:112488200-112497800	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr7:112488400-112492800	Weak transcription	Fetal Intestine Small	intestine
33	chr7:112488600-112492600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:112488600-112499600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:112490000-112497800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:112490000-112504000	Weak transcription	Fetal Thymus	thymus
37	chr7:112490800-112533000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:112491200-112491800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr7:112491200-112492200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:112491200-112492600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:112491200-112508600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:112491400-112492000	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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