Variant report

Variant	rs2605623
Chromosome Location	chr11:93249359-93249360
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10466368	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11601056	0.81[AMR][1000 genomes]
rs1563445	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2243410	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2248020	0.93[EUR][1000 genomes]
rs2248524	1.00[EUR][1000 genomes]
rs2248531	1.00[EUR][1000 genomes]
rs2248655	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605611	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2605614	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2605615	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2605617	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2605620	1.00[EUR][1000 genomes]
rs2605622	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605626	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605627	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2605628	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2605629	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2658766	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2658768	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658769	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658770	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7116173	0.81[AMR][1000 genomes];0.80[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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93211000-93253400	Weak transcription	Primary T cells from cord blood	blood
2	chr11:93218600-93254400	Weak transcription	Hela-S3	cervix
3	chr11:93226400-93257400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:93227200-93257600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:93233000-93257400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr11:93234800-93250400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:93235200-93250200	Weak transcription	Aorta	Aorta
8	chr11:93235400-93257800	Weak transcription	Gastric	stomach
9	chr11:93235600-93258800	Weak transcription	Small Intestine	intestine
10	chr11:93235800-93252600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr11:93238400-93259000	Weak transcription	Fetal Lung	lung
12	chr11:93239600-93255600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:93241000-93252400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:93241000-93254200	Weak transcription	HepG2	liver
15	chr11:93241800-93257400	Weak transcription	Fetal Intestine Large	intestine
16	chr11:93243200-93252200	Weak transcription	Dnd41	blood
17	chr11:93243400-93250000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:93243800-93255600	Weak transcription	Fetal Intestine Small	intestine
19	chr11:93244000-93254400	Weak transcription	Pancreas	Pancrea
20	chr11:93244200-93253800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr11:93244800-93254000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr11:93246400-93250200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr11:93248000-93249400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr11:93248000-93261800	Weak transcription	Fetal Stomach	stomach
25	chr11:93248800-93249400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:93248800-93249600	Enhancers	H9 Cell Line	embryonic stem cell
27	chr11:93248800-93250600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:93248800-93250800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr11:93248800-93251000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr11:93248800-93257400	Weak transcription	Adipose Nuclei	Adipose
31	chr11:93249000-93250000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:93249000-93250600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:93249000-93250600	Weak transcription	NHEK	skin
34	chr11:93249000-93252400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:93249000-93252600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr11:93249000-93261600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr11:93249200-93250200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:93249200-93250200	Weak transcription	GM12878-XiMat	blood
39	chr11:93249200-93250400	Weak transcription	Fetal Thymus	thymus
40	chr11:93249200-93250800	Weak transcription	Liver	Liver
41	chr11:93249200-93251800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:93249200-93252200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:93249200-93252200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr11:93249200-93253600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:93249200-93253600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:93249200-93254400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr11:93249200-93254400	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr11:93249200-93255400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:93249200-93255600	Weak transcription	Left Ventricle	heart
50	chr11:93249200-93255600	Weak transcription	Right Ventricle	heart

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