Variant report

Variant	rs61288268
Chromosome Location	chr11:74085384-74085385
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10459047	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10898974	0.85[EUR][1000 genomes]
rs10898975	0.85[EUR][1000 genomes]
rs10898976	0.85[EUR][1000 genomes]
rs10898980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898984	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11236042	0.85[EUR][1000 genomes]
rs11236043	0.85[EUR][1000 genomes]
rs11236044	0.85[EUR][1000 genomes]
rs11236052	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11236053	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11236054	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11236060	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11236063	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11236071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236072	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236077	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11236081	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11236082	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11236083	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11236091	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11236092	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11236093	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11236096	0.82[EUR][1000 genomes]
rs12049823	0.82[EUR][1000 genomes]
rs12225215	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12225446	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1279293	0.82[AFR][1000 genomes]
rs17132964	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2282488	0.85[EUR][1000 genomes]
rs2509531	0.81[EUR][1000 genomes]
rs2509532	0.82[EUR][1000 genomes]
rs3132913	0.81[EUR][1000 genomes]
rs515924	0.82[EUR][1000 genomes]
rs573077	0.81[EUR][1000 genomes]
rs61258589	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61902380	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61902404	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs633481	0.81[EUR][1000 genomes]
rs647870	0.81[EUR][1000 genomes]
rs676103	0.82[EUR][1000 genomes]
rs687958	0.81[EUR][1000 genomes]
rs7924914	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7951617	0.85[EUR][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	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv1049915	chr11:74052264-74126319	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers 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	10 gene(s)	inside rSNPs	diseases
7	nsv524552	chr11:74080107-74092403	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74037800-74086200	Weak transcription	Brain Anterior Caudate	brain
2	chr11:74038400-74086200	Weak transcription	Adipose Nuclei	Adipose
3	chr11:74050800-74085800	Weak transcription	Colonic Mucosa	Colon
4	chr11:74068800-74094800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:74072000-74090200	Weak transcription	Pancreas	Pancrea
6	chr11:74072000-74092200	Weak transcription	Lung	lung
7	chr11:74072000-74095800	Weak transcription	Aorta	Aorta
8	chr11:74072200-74085800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr11:74072200-74085800	Weak transcription	Ovary	ovary
10	chr11:74072200-74097000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:74072400-74087200	Weak transcription	Fetal Stomach	stomach
12	chr11:74072400-74093200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:74072400-74108000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:74072800-74098200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:74075400-74095000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr11:74076600-74086000	Weak transcription	Dnd41	blood
17	chr11:74076800-74085800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:74077000-74086200	Strong transcription	Fetal Thymus	thymus
19	chr11:74078000-74088800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr11:74078400-74087800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:74078600-74096200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:74079000-74092400	Weak transcription	Psoas Muscle	Psoas
23	chr11:74079200-74087000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr11:74079200-74092200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:74079200-74094000	Weak transcription	Left Ventricle	heart
26	chr11:74079400-74086200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr11:74079400-74087000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr11:74079400-74092200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr11:74079400-74105000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr11:74079600-74086000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:74079800-74087600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr11:74079800-74088000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:74079800-74093800	Weak transcription	Fetal Lung	lung
34	chr11:74080200-74092000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr11:74080400-74086200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr11:74080400-74087000	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr11:74080600-74098000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr11:74081000-74104000	Weak transcription	Fetal Brain Female	brain
39	chr11:74081400-74105000	Weak transcription	Thymus	Thymus
40	chr11:74081600-74095200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr11:74081800-74089800	Weak transcription	Brain Germinal Matrix	brain
42	chr11:74081800-74095000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr11:74081800-74108200	Weak transcription	Primary B cells from cord blood	blood
44	chr11:74082000-74087200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr11:74082000-74089400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr11:74083200-74086200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:74083200-74091800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:74083200-74091800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:74083200-74092200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:74084000-74085600	Strong transcription	HUVEC	blood vessel

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