Variant report

Variant	rs1820454
Chromosome Location	chr11:102092379-102092380
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10791566	0.85[EUR][1000 genomes]
rs10791569	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10895269	0.86[EUR][1000 genomes]
rs10895270	0.90[EUR][1000 genomes]
rs10895271	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11225153	0.87[EUR][1000 genomes]
rs11225169	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12222063	0.86[EUR][1000 genomes]
rs17097560	0.81[AFR][1000 genomes]
rs2114308	0.90[EUR][1000 genomes]
rs2846836	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2846837	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3858420	0.92[AFR][1000 genomes]
rs4420227	0.87[EUR][1000 genomes]
rs4561174	0.86[EUR][1000 genomes]
rs4754836	0.86[EUR][1000 genomes]
rs61893575	0.86[EUR][1000 genomes]
rs7104685	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7106107	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7107909	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7110355	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362945	chr11:101736547-102114246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv556141	chr11:101988061-102207851	Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv832251	chr11:102012295-102181744	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv1043388	chr11:102017719-102172857	Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102043800-102100400	Weak transcription	Pancreas	Pancrea
2	chr11:102059600-102100400	Weak transcription	Gastric	stomach
3	chr11:102062800-102096400	Weak transcription	Small Intestine	intestine
4	chr11:102063800-102096600	Weak transcription	Stomach Mucosa	stomach
5	chr11:102064000-102094400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr11:102064000-102105400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:102071400-102094400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:102074000-102097000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:102074000-102104200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:102075400-102105600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:102076200-102102200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:102076600-102093400	Strong transcription	Fetal Intestine Large	intestine
13	chr11:102077000-102097400	Weak transcription	Psoas Muscle	Psoas
14	chr11:102077200-102093200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:102077600-102094400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr11:102077600-102096600	Weak transcription	Esophagus	oesophagus
17	chr11:102077600-102096600	Weak transcription	Right Ventricle	heart
18	chr11:102078800-102096600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:102078800-102105600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:102079000-102094400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr11:102079000-102107200	Weak transcription	Fetal Brain Male	brain
22	chr11:102080000-102094400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:102080800-102096400	Weak transcription	HSMMtube	muscle
24	chr11:102080800-102099600	Weak transcription	Colon Smooth Muscle	Colon
25	chr11:102081000-102096600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr11:102081000-102100000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:102081200-102118600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr11:102081400-102092800	Weak transcription	Fetal Kidney	kidney
29	chr11:102081400-102094600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:102081400-102096400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:102081400-102097800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr11:102081800-102093000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:102085000-102096800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr11:102085200-102094400	Weak transcription	A549	lung
35	chr11:102085600-102096200	Strong transcription	Hela-S3	cervix
36	chr11:102086200-102094400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:102086200-102094400	Weak transcription	Liver	Liver
38	chr11:102086800-102092800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:102086800-102096400	Weak transcription	Fetal Stomach	stomach
40	chr11:102086800-102111600	Weak transcription	Lung	lung
41	chr11:102087000-102094400	Weak transcription	Fetal Heart	heart
42	chr11:102088000-102094400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr11:102088400-102094200	Weak transcription	Adipose Nuclei	Adipose
44	chr11:102088600-102105200	Weak transcription	Brain Substantia Nigra	brain
45	chr11:102088800-102093400	Strong transcription	Fetal Muscle Trunk	muscle
46	chr11:102088800-102094200	Weak transcription	Fetal Muscle Leg	muscle
47	chr11:102088800-102096600	Weak transcription	Left Ventricle	heart
48	chr11:102089200-102094200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr11:102089200-102097800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:102089600-102093000	Weak transcription	Rectal Mucosa Donor 31	rectum

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