Variant report

Variant	rs592602
Chromosome Location	chr11:77030831-77030832
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs11237141	0.96[ASN][1000 genomes]
rs11237142	0.96[ASN][1000 genomes]
rs11237148	0.96[ASN][1000 genomes]
rs11237150	0.96[ASN][1000 genomes]
rs11237151	0.96[ASN][1000 genomes]
rs11237160	0.80[AMR][1000 genomes]
rs11237162	0.87[AMR][1000 genomes]
rs11237164	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1125619	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1225478	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12361757	0.96[ASN][1000 genomes]
rs12363707	0.96[ASN][1000 genomes]
rs12363842	0.96[ASN][1000 genomes]
rs12366261	0.92[ASN][1000 genomes]
rs1237490	0.86[EUR][1000 genomes]
rs12794253	0.96[ASN][1000 genomes]
rs1377472	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1597954	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1622364	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1670446	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1670449	0.96[ASN][1000 genomes]
rs1670450	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1670456	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1670458	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1670461	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1670462	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17824184	0.96[ASN][1000 genomes]
rs1793468	0.96[ASN][1000 genomes]
rs1793471	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1793472	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1793487	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1793490	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2156567	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2602476	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2602483	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2602487	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2725820	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2725822	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2725825	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2725828	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3015982	0.88[EUR][1000 genomes]
rs3015983	0.86[EUR][1000 genomes]
rs3015985	0.86[EUR][1000 genomes]
rs3015986	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3015988	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3015990	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3015992	0.81[EUR][1000 genomes]
rs3019233	0.87[EUR][1000 genomes]
rs3019234	0.87[EUR][1000 genomes]
rs3019235	0.86[EUR][1000 genomes]
rs3019236	0.87[EUR][1000 genomes]
rs3019257	0.86[EUR][1000 genomes]
rs34025917	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34880271	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4375461	0.96[ASN][1000 genomes]
rs472691	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs476258	0.84[EUR][1000 genomes]
rs479104	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs493256	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs494289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs503406	0.88[EUR][1000 genomes]
rs505841	0.84[EUR][1000 genomes]
rs508662	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs51500	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs520938	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs522015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs523481	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs531638	0.83[EUR][1000 genomes]
rs535008	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs552323	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs557484	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs558470	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs560571	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs561386	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs562845	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs563731	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs572485	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs576220	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs580624	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs595654	0.83[EUR][1000 genomes]
rs598801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs644551	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs649040	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs653792	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66518011	0.92[ASN][1000 genomes]
rs66540426	0.96[ASN][1000 genomes]
rs66728428	0.96[ASN][1000 genomes]
rs674259	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs683455	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs683762	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs684793	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs686068	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs689108	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7934230	0.84[EUR][1000 genomes]
rs7949721	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs883680	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534515	chr11:76900813-77035769	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	esv3424135	chr11:76961603-77277087	Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77020800-77032000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr11:77020800-77033200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:77021000-77032600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr11:77022400-77032000	Weak transcription	Fetal Intestine Large	intestine
5	chr11:77024800-77032000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:77025000-77033000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:77025000-77033000	Weak transcription	HSMMtube	muscle
8	chr11:77025000-77033000	Weak transcription	NHLF	lung
9	chr11:77025000-77033200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr11:77025000-77033200	Weak transcription	NHDF-Ad	bronchial
11	chr11:77025000-77033400	Weak transcription	NH-A	brain
12	chr11:77025000-77034200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:77025400-77033400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:77025400-77037600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:77027400-77043000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:77027600-77033200	Weak transcription	Fetal Stomach	stomach
17	chr11:77027600-77043000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr11:77027800-77033400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:77028000-77032000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:77028000-77033000	Weak transcription	Fetal Intestine Small	intestine
21	chr11:77028000-77068400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr11:77028200-77033400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:77028200-77033400	Weak transcription	Liver	Liver
24	chr11:77028200-77066000	Weak transcription	Fetal Kidney	kidney
25	chr11:77028400-77043000	Weak transcription	Fetal Lung	lung
26	chr11:77029200-77033200	Weak transcription	Ovary	ovary
27	chr11:77029400-77032600	Weak transcription	Placenta	Placenta
28	chr11:77029800-77031400	Weak transcription	Primary T cells from cord blood	blood
29	chr11:77030000-77031600	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr11:77030000-77031600	Weak transcription	Primary B cells from cord blood	blood
31	chr11:77030000-77032200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:77030200-77032000	Weak transcription	Fetal Brain Female	brain
33	chr11:77030200-77032000	Weak transcription	Fetal Muscle Leg	muscle
34	chr11:77030200-77032000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr11:77030200-77032000	Weak transcription	GM12878-XiMat	blood
36	chr11:77030200-77033400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:77030400-77032000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:77030400-77032000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:77030400-77032000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr11:77030400-77032000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr11:77030400-77032000	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr11:77030400-77032400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:77030400-77033000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:77030400-77033200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr11:77030400-77033400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr11:77030400-77033400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr11:77030400-77043000	Weak transcription	Colon Smooth Muscle	Colon
48	chr11:77030600-77032000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:77030600-77032800	Weak transcription	Adipose Nuclei	Adipose
50	chr11:77030600-77032800	Weak transcription	Aorta	Aorta

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