Variant report

Variant	rs1942688
Chromosome Location	chr11:101991898-101991899
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10750632	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10750633	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10750634	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10791564	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10791565	0.80[EUR][1000 genomes]
rs10895258	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10895259	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10895261	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10895263	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10895264	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10895265	0.93[ASN][1000 genomes]
rs10895266	0.80[EUR][1000 genomes]
rs11225134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11225135	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11225139	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11225141	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11225146	0.85[ASN][1000 genomes]
rs11225147	0.84[ASN][1000 genomes]
rs11225149	0.82[EUR][1000 genomes]
rs11225151	0.81[EUR][1000 genomes]
rs11603468	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11606471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11607135	0.80[EUR][1000 genomes]
rs12223094	0.80[EUR][1000 genomes]
rs12790160	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12796162	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1365330	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1426392	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1426394	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1834595	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1834596	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1893497	0.82[EUR][1000 genomes]
rs1895917	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1942680	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1942689	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1942690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1942691	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2003357	0.87[ASN][1000 genomes]
rs2019070	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3890538	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4329661	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4442513	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4754833	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4754834	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60304309	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61538959	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6590949	0.82[EUR][1000 genomes]
rs7108698	0.83[ASN][1000 genomes]
rs7108820	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7117239	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7120363	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7123862	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7124280	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7126535	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7126944	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7127597	0.82[EUR][1000 genomes]
rs7128788	0.96[AFR][1000 genomes]
rs7130772	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7483889	0.80[EUR][1000 genomes]
rs7924449	0.80[EUR][1000 genomes]
rs7924737	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7927957	0.80[EUR][1000 genomes]
rs7928547	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7932563	0.93[AFR][1000 genomes]
rs7938172	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs948737	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9787890	0.81[EUR][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	esv3362945	chr11:101736547-102114246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv898333	chr11:101832670-102079986	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv556141	chr11:101988061-102207851	Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101983400-101998200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:101983600-101998000	Weak transcription	Right Ventricle	heart
3	chr11:101983600-101998200	Weak transcription	Colonic Mucosa	Colon
4	chr11:101983600-102014800	Weak transcription	Pancreas	Pancrea
5	chr11:101985200-101998000	Weak transcription	Gastric	stomach
6	chr11:101985200-102009200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:101986800-101992000	Weak transcription	Psoas Muscle	Psoas
8	chr11:101986800-101992200	Weak transcription	Fetal Muscle Leg	muscle
9	chr11:101986800-101995400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr11:101986800-101995600	Weak transcription	Right Atrium	heart
11	chr11:101987400-101992000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:101987400-101995000	Weak transcription	Placenta	Placenta
13	chr11:101987400-101996600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:101988600-101992000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:101988600-101992400	Genic enhancers	Fetal Lung	lung
16	chr11:101988800-102009000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr11:101988800-102009600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr11:101989600-102015200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr11:101989800-101992000	Enhancers	NH-A	brain
20	chr11:101990000-101992600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:101990000-101992600	Weak transcription	Lung	lung
22	chr11:101990000-101992600	Enhancers	Osteobl	bone
23	chr11:101990000-101992800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:101990000-101995400	Weak transcription	Aorta	Aorta
25	chr11:101990000-101995400	Weak transcription	Esophagus	oesophagus
26	chr11:101990000-101995400	Weak transcription	Left Ventricle	heart
27	chr11:101990000-101995800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:101990600-101992000	Enhancers	Placenta Amnion	Placenta Amnion
29	chr11:101990600-101992400	Enhancers	Adipose Nuclei	Adipose
30	chr11:101991000-101992200	Enhancers	HepG2	liver
31	chr11:101991000-101992400	Genic enhancers	NHEK	skin
32	chr11:101991000-102009000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr11:101991000-102010000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr11:101991200-101992000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr11:101991200-101992200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:101991200-101992600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:101991200-101992800	Enhancers	NHDF-Ad	bronchial
38	chr11:101991200-101993000	Strong transcription	Fetal Intestine Large	intestine
39	chr11:101991200-101993600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:101991400-101992000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:101991400-101992200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:101991400-101992200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr11:101991400-101994000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:101991400-101995400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr11:101991400-101996600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr11:101991400-101997200	Weak transcription	Liver	Liver
47	chr11:101991400-101998000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:101991600-101992000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr11:101991600-101992000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr11:101991600-101992200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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