Variant report

Variant	rs2605617
Chromosome Location	chr11:93243333-93243334
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10466368	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11601056	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11604909	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1563445	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2243410	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2248020	0.90[EUR][1000 genomes]
rs2248524	0.97[EUR][1000 genomes]
rs2248531	0.97[EUR][1000 genomes]
rs2248655	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2605611	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2605614	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2605615	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2605620	0.97[EUR][1000 genomes]
rs2605622	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2605623	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2605626	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2605627	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2605628	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2605629	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2658766	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2658768	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2658769	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2658770	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7116173	0.83[AMR][1000 genomes];0.82[EUR][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	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1039623	chr11:93141461-93328739	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	esv2760208	chr11:93172673-93266594	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93211000-93253400	Weak transcription	Primary T cells from cord blood	blood
2	chr11:93211600-93243800	Weak transcription	Fetal Thymus	thymus
3	chr11:93218600-93254400	Weak transcription	Hela-S3	cervix
4	chr11:93218800-93245800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr11:93225600-93248800	Weak transcription	Fetal Muscle Leg	muscle
6	chr11:93226400-93257400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr11:93227000-93243800	Weak transcription	Lung	lung
8	chr11:93227200-93257600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr11:93228200-93243400	Weak transcription	Right Ventricle	heart
10	chr11:93228200-93248200	Weak transcription	Brain Hippocampus Middle	brain
11	chr11:93232400-93245200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:93232800-93245800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr11:93232800-93248800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:93233000-93248800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:93233000-93248800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:93233000-93257400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr11:93233400-93248600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:93234400-93243400	Weak transcription	Left Ventricle	heart
19	chr11:93234800-93250400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:93235200-93250200	Weak transcription	Aorta	Aorta
21	chr11:93235400-93243400	Weak transcription	Pancreas	Pancrea
22	chr11:93235400-93257800	Weak transcription	Gastric	stomach
23	chr11:93235600-93258800	Weak transcription	Small Intestine	intestine
24	chr11:93235800-93252600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr11:93236200-93243400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:93237000-93248800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:93238400-93248400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:93238400-93259000	Weak transcription	Fetal Lung	lung
29	chr11:93238600-93248800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:93239400-93245800	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr11:93239600-93255600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:93241000-93252400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr11:93241000-93254200	Weak transcription	HepG2	liver
34	chr11:93241800-93257400	Weak transcription	Fetal Intestine Large	intestine
35	chr11:93242000-93243600	Weak transcription	Fetal Intestine Small	intestine
36	chr11:93242000-93244800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr11:93242200-93247600	Weak transcription	Fetal Stomach	stomach
38	chr11:93242600-93243800	Weak transcription	Liver	Liver
39	chr11:93242800-93243400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr11:93243200-93243400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:93243200-93243600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:93243200-93244000	Enhancers	Spleen	Spleen
43	chr11:93243200-93244600	Enhancers	Right Atrium	heart
44	chr11:93243200-93252200	Weak transcription	Dnd41	blood

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