Variant report

Variant	rs12289644
Chromosome Location	chr11:18575526-18575527
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11024682	1.00[AMR][1000 genomes]
rs11024716	0.80[YRI][hapmap]
rs11024722	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12271315	1.00[AMR][1000 genomes]
rs12276407	1.00[AMR][1000 genomes]
rs12280959	0.83[AFR][1000 genomes]
rs12283962	1.00[AMR][1000 genomes]
rs12291345	1.00[AMR][1000 genomes]
rs12292992	1.00[AMR][1000 genomes]
rs7109496	1.00[YRI][hapmap];0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv1042155	chr11:18435855-18697576	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
6	nsv975324	chr11:18563800-18581423	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv972915	chr11:18571883-18591969	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18549000-18576400	Weak transcription	Gastric	stomach
2	chr11:18549000-18577000	Weak transcription	Spleen	Spleen
3	chr11:18549200-18577000	Weak transcription	Esophagus	oesophagus
4	chr11:18549200-18583400	Weak transcription	Small Intestine	intestine
5	chr11:18549200-18591400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:18549400-18576000	Weak transcription	Ovary	ovary
7	chr11:18549400-18576400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr11:18549400-18577000	Weak transcription	Colonic Mucosa	Colon
9	chr11:18549400-18579200	Weak transcription	Pancreas	Pancrea
10	chr11:18549400-18583400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:18549400-18594400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr11:18549600-18576400	Weak transcription	Brain Substantia Nigra	brain
13	chr11:18549600-18576600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:18549600-18576800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:18549600-18577200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr11:18549600-18577800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr11:18549600-18608600	Weak transcription	Fetal Heart	heart
18	chr11:18549600-18609000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:18549600-18609000	Weak transcription	Fetal Brain Male	brain
20	chr11:18549800-18576200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:18549800-18576400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:18549800-18577000	Weak transcription	Primary T cells from cord blood	blood
23	chr11:18549800-18582400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr11:18549800-18588200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr11:18549800-18592000	Weak transcription	NHLF	lung
26	chr11:18549800-18594400	Weak transcription	K562	blood
27	chr11:18549800-18600600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:18550600-18591400	Weak transcription	Dnd41	blood
29	chr11:18552600-18601400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr11:18554000-18576000	Weak transcription	Brain Angular Gyrus	brain
31	chr11:18555800-18576400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:18555800-18582800	Weak transcription	NHEK	skin
33	chr11:18557800-18576600	Weak transcription	Psoas Muscle	Psoas
34	chr11:18558400-18576200	Weak transcription	Brain Hippocampus Middle	brain
35	chr11:18558400-18592200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr11:18559200-18592800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:18560600-18576200	Weak transcription	Brain Anterior Caudate	brain
38	chr11:18562200-18598200	Weak transcription	Stomach Mucosa	stomach
39	chr11:18563200-18601200	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr11:18563800-18608800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr11:18564000-18586400	Weak transcription	GM12878-XiMat	blood
42	chr11:18564200-18576200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr11:18565200-18609400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:18566000-18576200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr11:18566200-18576000	Weak transcription	Right Ventricle	heart
46	chr11:18566200-18576800	Weak transcription	Brain Germinal Matrix	brain
47	chr11:18566200-18577000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr11:18566200-18580800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr11:18566200-18601000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr11:18566400-18576000	Weak transcription	Fetal Thymus	thymus

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