Variant report

Variant	rs2605594
Chromosome Location	chr11:93212161-93212162
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10831050	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10831053	1.00[ASN][1000 genomes]
rs11020381	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11020389	1.00[ASN][1000 genomes]
rs11020403	1.00[ASN][1000 genomes]
rs11820614	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1869912	1.00[ASN][1000 genomes]
rs2045313	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2045459	0.98[EUR][1000 genomes]
rs2045461	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2045462	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2198797	1.00[ASN][1000 genomes]
rs2605591	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605592	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605595	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605596	0.92[AFR][1000 genomes]
rs2605598	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605599	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605601	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605602	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605605	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608273	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608277	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608278	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658794	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658795	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658796	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658797	0.95[AFR][1000 genomes]
rs2658800	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658802	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2939621	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6483246	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7114771	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7124358	1.00[ASN][1000 genomes]
rs7365	0.93[AFR][1000 genomes]
rs897556	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039134	chr11:92790000-93219942	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93200600-93214400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:93207000-93239000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:93207800-93220000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:93208200-93223200	Weak transcription	GM12878-XiMat	blood
5	chr11:93208400-93218400	Weak transcription	Left Ventricle	heart
6	chr11:93208600-93217800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr11:93208800-93213000	Strong transcription	Liver	Liver
8	chr11:93209000-93214200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr11:93209000-93231400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:93209000-93235200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:93209200-93213200	Weak transcription	Small Intestine	intestine
12	chr11:93209200-93215000	Weak transcription	Right Ventricle	heart
13	chr11:93209200-93229200	Weak transcription	Dnd41	blood
14	chr11:93209400-93214200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr11:93209400-93215000	Weak transcription	Right Atrium	heart
16	chr11:93209400-93218800	Strong transcription	Fetal Intestine Small	intestine
17	chr11:93209600-93213000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr11:93209600-93214800	Strong transcription	Aorta	Aorta
19	chr11:93209600-93229400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr11:93209800-93212200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:93209800-93212200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:93209800-93213000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:93209800-93217200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr11:93210000-93212200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:93210000-93215800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr11:93210200-93212600	Enhancers	Fetal Brain Male	brain
27	chr11:93210400-93213000	Enhancers	H9 Cell Line	embryonic stem cell
28	chr11:93210400-93213800	Weak transcription	Stomach Mucosa	stomach
29	chr11:93210600-93213000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:93210600-93213200	Strong transcription	Lung	lung
31	chr11:93210600-93214400	Weak transcription	Esophagus	oesophagus
32	chr11:93210600-93214800	Strong transcription	Spleen	Spleen
33	chr11:93210600-93215400	Weak transcription	Fetal Lung	lung
34	chr11:93210600-93220000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:93210600-93231600	Weak transcription	A549	lung
36	chr11:93210800-93212400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:93210800-93213400	Strong transcription	Pancreas	Pancrea
38	chr11:93211000-93212200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr11:93211000-93212400	Strong transcription	Duodenum Mucosa	Duodenum
40	chr11:93211000-93214200	Weak transcription	Fetal Muscle Leg	muscle
41	chr11:93211000-93214200	Weak transcription	Hela-S3	cervix
42	chr11:93211000-93218600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr11:93211000-93225800	Weak transcription	Thymus	Thymus
44	chr11:93211000-93253400	Weak transcription	Primary T cells from cord blood	blood
45	chr11:93211200-93215600	Weak transcription	Fetal Brain Female	brain
46	chr11:93211200-93222000	Weak transcription	Adipose Nuclei	Adipose
47	chr11:93211400-93213000	Strong transcription	Fetal Intestine Large	intestine
48	chr11:93211600-93212200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr11:93211600-93212200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr11:93211600-93212400	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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