Variant report

Variant	rs12288900
Chromosome Location	chr11:120291850-120291851
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10437691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10466597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11217780	1.00[AMR][1000 genomes]
rs11217784	1.00[AMR][1000 genomes]
rs11217894	1.00[AMR][1000 genomes]
rs12272851	1.00[AMR][1000 genomes]
rs12273736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12278707	1.00[AMR][1000 genomes]
rs12279381	1.00[AMR][1000 genomes]
rs12280403	1.00[AMR][1000 genomes]
rs12283229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12285146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286309	1.00[AMR][1000 genomes]
rs12288495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12288854	1.00[AMR][1000 genomes]
rs12290756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17123749	1.00[AMR][1000 genomes]
rs28739499	1.00[AMR][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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv529003	chr11:120209386-120355230	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1046430	chr11:120238962-120294026	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1043248	chr11:120238962-120299598	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1051672	chr11:120238962-120314178	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1051783	chr11:120246224-120314178	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120265800-120295600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:120269200-120295200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:120270400-120292200	Weak transcription	Fetal Stomach	stomach
4	chr11:120271600-120300200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:120272000-120302400	Weak transcription	Brain Anterior Caudate	brain
6	chr11:120272200-120292600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:120272200-120292800	Weak transcription	Fetal Kidney	kidney
8	chr11:120272200-120295200	Weak transcription	Brain Angular Gyrus	brain
9	chr11:120272200-120295200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr11:120272200-120299000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr11:120272200-120315600	Weak transcription	Brain Germinal Matrix	brain
12	chr11:120272200-120315800	Weak transcription	Brain Hippocampus Middle	brain
13	chr11:120272400-120292200	Weak transcription	Fetal Intestine Small	intestine
14	chr11:120272400-120320600	Weak transcription	Psoas Muscle	Psoas
15	chr11:120274200-120295600	Weak transcription	Pancreas	Pancrea
16	chr11:120274800-120292400	Weak transcription	HepG2	liver
17	chr11:120274800-120294800	Weak transcription	A549	lung
18	chr11:120274800-120295200	Weak transcription	Small Intestine	intestine
19	chr11:120275400-120295200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:120275600-120295200	Weak transcription	Ovary	ovary
21	chr11:120275600-120295400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:120275600-120302400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr11:120275600-120302600	Weak transcription	K562	blood
24	chr11:120275600-120322200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:120275800-120300200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr11:120275800-120314000	Weak transcription	Right Ventricle	heart
27	chr11:120276000-120295200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:120276400-120295400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr11:120276600-120302200	Weak transcription	Fetal Heart	heart
30	chr11:120276800-120295400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr11:120277600-120319800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:120278200-120295600	Weak transcription	Primary B cells from peripheral blood	blood
33	chr11:120278600-120295200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr11:120278800-120292600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr11:120278800-120295600	Weak transcription	Fetal Brain Female	brain
36	chr11:120279400-120295000	Weak transcription	Fetal Brain Male	brain
37	chr11:120280400-120299600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr11:120283200-120295000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:120284800-120295000	Weak transcription	Colon Smooth Muscle	Colon
40	chr11:120284800-120295000	Weak transcription	Fetal Lung	lung
41	chr11:120284800-120295000	Weak transcription	HMEC	breast
42	chr11:120284800-120298800	Weak transcription	NH-A	brain
43	chr11:120285000-120302000	Weak transcription	HSMMtube	muscle
44	chr11:120285000-120302200	Weak transcription	Hela-S3	cervix
45	chr11:120285600-120292400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr11:120285600-120319800	Weak transcription	Gastric	stomach
47	chr11:120285800-120292400	Weak transcription	NHEK	skin
48	chr11:120286200-120295600	Weak transcription	Esophagus	oesophagus
49	chr11:120286800-120293200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:120286800-120295200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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