Variant report

Variant	rs590318
Chromosome Location	chr11:65694383-65694384
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1151523	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1192168	0.81[EUR][1000 genomes]
rs12361552	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs500161	0.86[EUR][1000 genomes]
rs526631	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs531612	0.83[EUR][1000 genomes]
rs556872	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs574586	0.86[EUR][1000 genomes]
rs575479	0.87[EUR][1000 genomes]
rs589253	0.86[EUR][1000 genomes]
rs590871	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs593525	0.81[EUR][1000 genomes]
rs617791	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61893932	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs624273	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs634534	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs653236	0.87[EUR][1000 genomes]
rs669371	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs674363	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs688862	0.81[EUR][1000 genomes]
rs689274	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs694156	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
2	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
3	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
6	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
7	nsv897764	chr11:65613348-65695222	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
8	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
9	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
10	esv3444925	chr11:65687425-65714023	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65687800-65699800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:65688200-65695200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:65688400-65694600	Weak transcription	K562	blood
4	chr11:65688600-65695000	Weak transcription	HepG2	liver
5	chr11:65688600-65699000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:65688800-65694600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:65688800-65695200	Weak transcription	Small Intestine	intestine
8	chr11:65688800-65695200	Weak transcription	Stomach Mucosa	stomach
9	chr11:65688800-65715000	Weak transcription	Right Atrium	heart
10	chr11:65690400-65695000	Weak transcription	Aorta	Aorta
11	chr11:65690400-65695400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:65690400-65699000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:65690400-65699400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr11:65690400-65699600	Weak transcription	NH-A	brain
15	chr11:65690400-65699800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:65690400-65702000	Weak transcription	Fetal Brain Male	brain
17	chr11:65690600-65694600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr11:65690600-65694600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr11:65690600-65694600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr11:65690600-65694600	Weak transcription	Dnd41	blood
21	chr11:65690600-65694600	Weak transcription	GM12878-XiMat	blood
22	chr11:65690600-65695000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:65690600-65695200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:65690600-65695200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:65690600-65695200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr11:65690600-65695200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr11:65690600-65695400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:65690600-65695600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:65690600-65695600	Weak transcription	Lung	lung
30	chr11:65690600-65695600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr11:65690600-65696400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr11:65690600-65697800	Weak transcription	Gastric	stomach
33	chr11:65690600-65705000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:65690800-65695000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr11:65690800-65695000	Weak transcription	Colonic Mucosa	Colon
36	chr11:65690800-65695200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr11:65690800-65695400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:65690800-65695400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr11:65690800-65701000	Weak transcription	Esophagus	oesophagus
40	chr11:65691000-65694600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr11:65691000-65694600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr11:65691000-65695200	Weak transcription	Adipose Nuclei	Adipose
43	chr11:65691000-65695200	Weak transcription	Brain Hippocampus Middle	brain
44	chr11:65691000-65695200	Weak transcription	Brain Substantia Nigra	brain
45	chr11:65691000-65695400	Weak transcription	HSMMtube	muscle
46	chr11:65691000-65699600	Weak transcription	A549	lung
47	chr11:65691200-65694600	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr11:65691200-65694600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr11:65691200-65694600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr11:65691200-65695000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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