Variant report

Variant	rs11952545
Chromosome Location	chr5:36103251-36103252
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	chr5:36102224..36105150-chr5:36106081..36108767,3	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10452459	1.00[EUR][1000 genomes]
rs10512641	1.00[EUR][1000 genomes]
rs11949914	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11953540	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11959495	1.00[EUR][1000 genomes]
rs11960054	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12109571	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1500223	1.00[EUR][1000 genomes]
rs1500225	1.00[EUR][1000 genomes]
rs16902710	0.91[ASW][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16902726	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16902747	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16902765	1.00[EUR][1000 genomes]
rs16902789	1.00[EUR][1000 genomes]
rs16902814	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16902829	1.00[EUR][1000 genomes]
rs16902858	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16902872	1.00[TSI][hapmap]
rs16902910	1.00[EUR][1000 genomes]
rs16902936	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1874182	1.00[EUR][1000 genomes]
rs1965840	1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2172777	1.00[EUR][1000 genomes]
rs2362981	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3853244	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3853245	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3895887	1.00[EUR][1000 genomes]
rs4022390	0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56815690	1.00[EUR][1000 genomes]
rs57472443	1.00[EUR][1000 genomes]
rs58131800	1.00[EUR][1000 genomes]
rs59754678	1.00[EUR][1000 genomes]
rs60083069	1.00[EUR][1000 genomes]
rs61209349	1.00[EUR][1000 genomes]
rs61656343	1.00[EUR][1000 genomes]
rs6451255	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6451267	1.00[EUR][1000 genomes]
rs6860085	1.00[TSI][hapmap]
rs6860896	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6866069	1.00[EUR][1000 genomes]
rs6867280	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6869324	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6872883	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6874771	0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs6875875	1.00[EUR][1000 genomes]
rs6878587	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6881555	1.00[EUR][1000 genomes]
rs6886540	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6887103	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6894587	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6896114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6896401	1.00[EUR][1000 genomes]
rs6896576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6897845	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6898451	1.00[EUR][1000 genomes]
rs73081933	1.00[EUR][1000 genomes]
rs73081942	1.00[EUR][1000 genomes]
rs73081945	1.00[EUR][1000 genomes]
rs73748793	1.00[EUR][1000 genomes]
rs73751620	1.00[EUR][1000 genomes]
rs73751622	1.00[EUR][1000 genomes]
rs766065	1.00[EUR][1000 genomes]
rs7702340	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7705125	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7709624	1.00[EUR][1000 genomes]
rs7710047	1.00[EUR][1000 genomes]
rs7718407	1.00[EUR][1000 genomes]
rs7719226	0.86[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7723314	0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7725596	1.00[EUR][1000 genomes]
rs7730301	1.00[EUR][1000 genomes]
rs7730829	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7733484	0.83[ASW][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs921022	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32711	chr5:36047797-36146166	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv830262	chr5:36074311-36293872	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats 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	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36090800-36107000	Weak transcription	HSMMtube	muscle
2	chr5:36092200-36106000	Weak transcription	Primary B cells from cord blood	blood
3	chr5:36092800-36116200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:36093600-36104000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:36093600-36107600	Weak transcription	Psoas Muscle	Psoas
6	chr5:36096600-36128600	Weak transcription	Fetal Brain Male	brain
7	chr5:36096800-36104000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:36097200-36104000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr5:36098200-36104200	Weak transcription	Primary T cells from cord blood	blood
10	chr5:36098200-36106800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:36098400-36103800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr5:36098600-36104000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr5:36098600-36104000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr5:36098600-36104200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:36098600-36106200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:36098600-36106800	Weak transcription	Left Ventricle	heart
17	chr5:36098600-36107400	Weak transcription	Right Ventricle	heart
18	chr5:36098600-36107800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:36098800-36104000	Weak transcription	Brain Angular Gyrus	brain
20	chr5:36098800-36113200	Weak transcription	Fetal Stomach	stomach
21	chr5:36099000-36104000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr5:36099000-36104200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:36099000-36116800	Weak transcription	Fetal Intestine Small	intestine
24	chr5:36099200-36103800	Weak transcription	Liver	Liver
25	chr5:36100000-36103800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:36100200-36103400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:36100200-36107800	Weak transcription	Aorta	Aorta
28	chr5:36100200-36127600	Weak transcription	Pancreas	Pancrea
29	chr5:36100200-36139400	Weak transcription	Gastric	stomach
30	chr5:36100400-36103400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:36100400-36104000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr5:36100600-36104000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr5:36100600-36106800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr5:36100800-36103600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr5:36100800-36106000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr5:36100800-36107600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr5:36100800-36127600	Weak transcription	Spleen	Spleen
38	chr5:36101000-36104000	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr5:36101000-36104000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:36101000-36104000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:36101000-36104000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr5:36101000-36105800	Weak transcription	Brain Anterior Caudate	brain
43	chr5:36101200-36150800	Weak transcription	Colonic Mucosa	Colon
44	chr5:36101400-36104400	Weak transcription	Placenta	Placenta
45	chr5:36101400-36107600	Weak transcription	Small Intestine	intestine
46	chr5:36101800-36103400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:36101800-36103400	Weak transcription	Dnd41	blood
48	chr5:36101800-36103400	Weak transcription	Osteobl	bone
49	chr5:36102000-36104000	Weak transcription	Fetal Kidney	kidney
50	chr5:36102000-36118400	Strong transcription	Monocytes-CD14+_RO01746	blood

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