Variant report

Variant	rs11869324
Chromosome Location	chr17:67255185-67255186
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1011549	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10445224	0.96[ASN][1000 genomes]
rs10491177	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10512526	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11077445	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11649744	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11650658	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11650955	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11651815	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11651872	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11652207	0.90[ASN][1000 genomes]
rs11654323	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11656389	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11656456	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11871771	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12449649	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12450167	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12450402	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12450522	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12450743	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12452340	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12937191	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12937947	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12938039	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12938064	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12938097	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12940364	0.84[ASN][1000 genomes]
rs12941297	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12942763	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12942867	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12943504	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12944980	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12945481	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12945908	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12946566	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12946776	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12952942	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1550828	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1558168	0.94[ASN][1000 genomes]
rs15886	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1990248	0.83[ASN][1000 genomes]
rs2364996	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2441358	0.86[ASN][1000 genomes]
rs34334829	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34609440	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34985085	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4310935	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4310936	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs476677	0.81[ASN][1000 genomes]
rs481876	0.85[ASN][1000 genomes]
rs486840	0.87[ASN][1000 genomes]
rs494946	0.81[ASN][1000 genomes]
rs523505	0.84[ASN][1000 genomes]
rs544940	0.87[ASN][1000 genomes]
rs557491	0.99[ASN][1000 genomes]
rs55773491	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs568536	0.87[ASN][1000 genomes]
rs57949169	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58634970	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7223895	0.86[ASN][1000 genomes]
rs7225762	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs817126	0.86[ASN][1000 genomes]
rs817127	0.88[ASN][1000 genomes]
rs9646388	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv575932	chr17:67149973-67327806	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv457889	chr17:67210992-67332355	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a
3	nsv575934	chr17:67210992-67332355	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a
4	nsv1055156	chr17:67239695-67272311	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	n/a
5	nsv833527	chr17:67240575-67400871	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67230600-67259600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr17:67230800-67271800	Weak transcription	Pancreas	Pancrea
3	chr17:67235000-67289000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr17:67236000-67283000	Weak transcription	Ovary	ovary
5	chr17:67236400-67278000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr17:67236800-67280800	Weak transcription	Brain Angular Gyrus	brain
7	chr17:67236800-67298800	Weak transcription	Psoas Muscle	Psoas
8	chr17:67238800-67278000	Weak transcription	Thymus	Thymus
9	chr17:67239200-67262400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr17:67240000-67289200	Weak transcription	Esophagus	oesophagus
11	chr17:67240000-67296000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr17:67242000-67260600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr17:67242000-67265000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr17:67242200-67265000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr17:67242200-67265000	Weak transcription	NHEK	skin
16	chr17:67242400-67289400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr17:67242800-67256400	Weak transcription	Small Intestine	intestine
18	chr17:67243000-67264800	Weak transcription	NHDF-Ad	bronchial
19	chr17:67243600-67305600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr17:67244000-67262400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr17:67244000-67321800	Weak transcription	Right Ventricle	heart
22	chr17:67245600-67261600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr17:67245800-67255200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr17:67245800-67278000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr17:67246800-67255200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr17:67248000-67284400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr17:67249000-67264600	Weak transcription	Left Ventricle	heart
28	chr17:67249000-67278400	Weak transcription	Fetal Intestine Small	intestine
29	chr17:67250000-67289200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr17:67250200-67280800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr17:67250800-67264600	Weak transcription	Osteobl	bone
32	chr17:67250800-67265200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr17:67250800-67277800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr17:67251200-67279000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr17:67251400-67255200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr17:67251400-67257000	Weak transcription	Adipose Nuclei	Adipose
37	chr17:67251400-67258400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr17:67251400-67260000	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr17:67251400-67264000	Weak transcription	HUVEC	blood vessel
40	chr17:67251400-67264200	Weak transcription	Fetal Intestine Large	intestine
41	chr17:67251400-67264200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr17:67251400-67272000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr17:67251400-67273000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr17:67251400-67277600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr17:67251400-67277800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr17:67251400-67278000	Weak transcription	Primary T cells from cord blood	blood
47	chr17:67251600-67265800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr17:67251600-67265800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr17:67251600-67274000	Weak transcription	GM12878-XiMat	blood
50	chr17:67251600-67278200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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