Variant report

Variant	rs11952903
Chromosome Location	chr5:145661820-145661821
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10515568	1.00[EUR][1000 genomes]
rs11540216	0.83[EUR][1000 genomes]
rs11959720	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104247	0.83[EUR][1000 genomes]
rs17104250	0.83[EUR][1000 genomes]
rs17104260	0.83[EUR][1000 genomes]
rs17104264	0.83[EUR][1000 genomes]
rs17104266	0.83[EUR][1000 genomes]
rs17104268	0.83[EUR][1000 genomes]
rs17104276	0.83[EUR][1000 genomes]
rs17104293	0.90[EUR][1000 genomes]
rs17104318	0.96[EUR][1000 genomes]
rs17104321	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17104322	0.96[EUR][1000 genomes]
rs17104324	0.96[EUR][1000 genomes]
rs17104331	0.96[EUR][1000 genomes]
rs17104347	1.00[EUR][1000 genomes]
rs17104362	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104371	1.00[EUR][1000 genomes]
rs17104395	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2163754	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2895652	0.96[EUR][1000 genomes]
rs35947468	0.84[AFR][1000 genomes]
rs4631229	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56864252	0.83[EUR][1000 genomes]
rs57466173	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57722184	0.93[EUR][1000 genomes]
rs58569901	0.83[EUR][1000 genomes]
rs58848845	0.81[AFR][1000 genomes]
rs58922378	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60892265	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61455974	0.83[EUR][1000 genomes]
rs62372773	0.81[AFR][1000 genomes]
rs66507348	0.83[EUR][1000 genomes]
rs66891285	0.83[EUR][1000 genomes]
rs67350755	0.83[EUR][1000 genomes]
rs67721586	0.83[EUR][1000 genomes]
rs67859456	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67897591	0.83[EUR][1000 genomes]
rs68040240	0.98[EUR][1000 genomes]
rs6870249	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6871866	0.83[EUR][1000 genomes]
rs6882243	0.86[EUR][1000 genomes]
rs6884493	0.81[AFR][1000 genomes]
rs72806113	1.00[EUR][1000 genomes]
rs72806116	1.00[EUR][1000 genomes]
rs72806136	1.00[EUR][1000 genomes]
rs72806144	1.00[EUR][1000 genomes]
rs72806155	1.00[EUR][1000 genomes]
rs72806173	0.98[EUR][1000 genomes]
rs72806176	0.96[EUR][1000 genomes]
rs72820451	0.83[EUR][1000 genomes]
rs72822208	0.83[EUR][1000 genomes]
rs72822249	0.83[EUR][1000 genomes]
rs72822252	0.83[EUR][1000 genomes]
rs72822263	0.83[EUR][1000 genomes]
rs72822274	0.83[EUR][1000 genomes]
rs72824110	0.86[EUR][1000 genomes]
rs72824123	0.93[EUR][1000 genomes]
rs72824124	0.93[EUR][1000 genomes]
rs73315720	0.83[EUR][1000 genomes]
rs73317887	0.93[EUR][1000 genomes]
rs73317890	0.93[EUR][1000 genomes]
rs7724811	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883006	chr5:145450586-145672431	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428128	chr5:145503978-145682880	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv883007	chr5:145506100-145672431	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv883009	chr5:145567877-145672431	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv883011	chr5:145583623-145672431	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv883012	chr5:145589542-145672431	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv462478	chr5:145622472-145687295	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
8	nsv599937	chr5:145622472-145687295	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145597000-145668400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:145611200-145670600	Weak transcription	Small Intestine	intestine
3	chr5:145621000-145664600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:145623000-145667800	Strong transcription	Dnd41	blood
5	chr5:145624800-145665200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:145628200-145669000	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr5:145630600-145667000	Strong transcription	Fetal Thymus	thymus
8	chr5:145630600-145667400	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr5:145630800-145667200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:145630800-145668400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr5:145630800-145669600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:145631000-145668400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:145631200-145662600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:145631200-145669000	Strong transcription	Liver	Liver
15	chr5:145633000-145669400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:145633800-145667200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr5:145639400-145662400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:145640000-145662000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:145641400-145663000	Weak transcription	Right Ventricle	heart
20	chr5:145641400-145668000	Weak transcription	Gastric	stomach
21	chr5:145641600-145670600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr5:145642400-145667400	Weak transcription	Brain Angular Gyrus	brain
23	chr5:145642800-145662800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:145642800-145662800	Weak transcription	Aorta	Aorta
25	chr5:145643600-145664400	Weak transcription	Lung	lung
26	chr5:145644000-145662800	Weak transcription	HSMMtube	muscle
27	chr5:145645200-145663200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr5:145645200-145664800	Strong transcription	Fetal Intestine Large	intestine
29	chr5:145645600-145662400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:145645600-145667200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:145647200-145666600	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr5:145649200-145676200	Weak transcription	Fetal Brain Male	brain
33	chr5:145649600-145663200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr5:145651200-145665800	Weak transcription	Fetal Kidney	kidney
35	chr5:145651400-145662000	Weak transcription	GM12878-XiMat	blood
36	chr5:145651400-145662800	Weak transcription	NHLF	lung
37	chr5:145651400-145663600	Weak transcription	Stomach Mucosa	stomach
38	chr5:145651600-145662800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:145652000-145662800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr5:145652200-145667800	Weak transcription	Colonic Mucosa	Colon
41	chr5:145652600-145667600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr5:145652800-145668000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr5:145652800-145672400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr5:145653000-145662800	Weak transcription	Fetal Heart	heart
45	chr5:145653000-145662800	Weak transcription	Psoas Muscle	Psoas
46	chr5:145653000-145668600	Weak transcription	Brain Anterior Caudate	brain
47	chr5:145653200-145662800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr5:145653200-145662800	Weak transcription	NHEK	skin
49	chr5:145653200-145663200	Weak transcription	Colon Smooth Muscle	Colon
50	chr5:145653200-145665600	Weak transcription	Brain Germinal Matrix	brain

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