Variant report

Variant	rs2605605
Chromosome Location	chr11:93223218-93223219
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10831050	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10831053	1.00[ASN][1000 genomes]
rs11020381	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11020389	1.00[ASN][1000 genomes]
rs11020403	1.00[ASN][1000 genomes]
rs11820614	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1869912	1.00[ASN][1000 genomes]
rs2045313	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2045459	0.92[EUR][1000 genomes]
rs2045461	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2045462	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2198797	1.00[ASN][1000 genomes]
rs2605591	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605592	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605594	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605595	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605598	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605599	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605601	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605602	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608273	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608277	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608278	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658794	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658795	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658796	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658800	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658802	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2939621	0.89[EUR][1000 genomes]
rs6483246	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7114771	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7124358	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs897556	1.00[ASN][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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93207000-93239000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:93209000-93231400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:93209000-93235200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:93209200-93229200	Weak transcription	Dnd41	blood
5	chr11:93209600-93229400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr11:93210600-93231600	Weak transcription	A549	lung
7	chr11:93211000-93225800	Weak transcription	Thymus	Thymus
8	chr11:93211000-93253400	Weak transcription	Primary T cells from cord blood	blood
9	chr11:93211600-93243800	Weak transcription	Fetal Thymus	thymus
10	chr11:93212200-93234800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:93212400-93225800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:93214800-93234400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:93215200-93225400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr11:93215600-93225800	Weak transcription	Colonic Mucosa	Colon
15	chr11:93215600-93226000	Weak transcription	Stomach Mucosa	stomach
16	chr11:93216000-93224600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr11:93216600-93228600	Enhancers	Liver	Liver
18	chr11:93217000-93224000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr11:93217200-93226000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr11:93218600-93223400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:93218600-93254400	Weak transcription	Hela-S3	cervix
22	chr11:93218800-93231800	Weak transcription	Ovary	ovary
23	chr11:93218800-93238200	Weak transcription	Esophagus	oesophagus
24	chr11:93218800-93245800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr11:93219200-93223400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:93219200-93224000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr11:93219200-93224400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:93219400-93225800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr11:93219800-93227600	Weak transcription	Right Ventricle	heart
30	chr11:93220000-93224800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:93220200-93225600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr11:93220200-93228800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr11:93220600-93224000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr11:93220600-93224400	Weak transcription	Fetal Intestine Large	intestine
35	chr11:93220600-93224800	Weak transcription	Fetal Muscle Leg	muscle
36	chr11:93220600-93225400	Weak transcription	Pancreas	Pancrea
37	chr11:93220600-93230600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr11:93220600-93230800	Weak transcription	Colon Smooth Muscle	Colon
39	chr11:93220600-93232000	Weak transcription	Left Ventricle	heart
40	chr11:93220800-93224200	Weak transcription	K562	blood
41	chr11:93220800-93225400	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr11:93220800-93226400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:93220800-93227800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr11:93220800-93235400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr11:93221000-93225600	Enhancers	HepG2	liver
46	chr11:93221200-93225400	Strong transcription	Fetal Intestine Small	intestine
47	chr11:93221200-93228000	Weak transcription	HSMMtube	muscle
48	chr11:93221600-93223800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:93221800-93226000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr11:93222000-93231600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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