Variant report

Variant	rs72550808
Chromosome Location	chr11:9068979-9068980
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs34856936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35131475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61730186	0.83[AMR][1000 genomes]
rs72547297	0.80[EUR][1000 genomes]
rs72547300	0.80[EUR][1000 genomes]
rs72549208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72549238	0.80[EUR][1000 genomes]
rs7950777	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv896984	chr11:8988550-9090408	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv896985	chr11:9013002-9152463	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
5	nsv467704	chr11:9059192-9125301	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv553454	chr11:9059192-9125301	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9052800-9069800	Weak transcription	Gastric	stomach
2	chr11:9058400-9099800	Weak transcription	Aorta	Aorta
3	chr11:9059200-9074000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:9064600-9069000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr11:9064800-9069000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:9065600-9073400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:9066000-9081800	Weak transcription	Small Intestine	intestine
8	chr11:9066400-9070400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr11:9066800-9071200	Enhancers	Fetal Stomach	stomach
10	chr11:9067200-9069400	Enhancers	Fetal Lung	lung
11	chr11:9067200-9070000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr11:9067600-9072200	Enhancers	Fetal Muscle Leg	muscle
13	chr11:9067800-9069000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr11:9067800-9069200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:9067800-9069600	Enhancers	Fetal Muscle Trunk	muscle
16	chr11:9067800-9070200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr11:9067800-9071200	Enhancers	Rectal Smooth Muscle	rectum
18	chr11:9068000-9069200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr11:9068000-9069200	Enhancers	Placenta	Placenta
20	chr11:9068000-9069400	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr11:9068000-9070200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:9068000-9070200	Enhancers	Brain Cingulate Gyrus	brain
23	chr11:9068000-9070400	Enhancers	Fetal Brain Female	brain
24	chr11:9068200-9069000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:9068200-9069000	Enhancers	Fetal Kidney	kidney
26	chr11:9068200-9069400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:9068200-9070200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr11:9068200-9070400	Strong transcription	Pancreas	Pancrea
29	chr11:9068400-9069200	Enhancers	Adipose Nuclei	Adipose
30	chr11:9068400-9069400	Enhancers	NHDF-Ad	bronchial
31	chr11:9068400-9069600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:9068400-9070400	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr11:9068400-9070600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr11:9068600-9069000	Enhancers	Fetal Intestine Large	intestine
35	chr11:9068600-9069000	Enhancers	Fetal Intestine Small	intestine
36	chr11:9068600-9069200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:9068600-9069200	Enhancers	Left Ventricle	heart
38	chr11:9068600-9069200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr11:9068600-9069400	Enhancers	Ovary	ovary
40	chr11:9068600-9069400	Enhancers	NHLF	lung
41	chr11:9068600-9069600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:9068600-9069600	Flanking Active TSS	Fetal Brain Male	brain
43	chr11:9068600-9069800	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr11:9068600-9069800	Enhancers	Brain Germinal Matrix	brain
45	chr11:9068600-9069800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr11:9068600-9069800	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr11:9068600-9070200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:9068600-9070400	Enhancers	Right Atrium	heart
49	chr11:9068800-9069000	Enhancers	Colonic Mucosa	Colon
50	chr11:9068800-9069000	Enhancers	Fetal Heart	heart

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