Variant report

Variant	rs56103249
Chromosome Location	chr11:8089765-8089766
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8084754..8086469-chr11:8088768..8090631,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EIF3F-1	chr11:8089157-8090920	ENSG00000248332

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1406095	0.84[ASN][1000 genomes]
rs1881240	0.85[EUR][1000 genomes]
rs35875365	0.86[ASN][1000 genomes]
rs4758278	0.82[EUR][1000 genomes]
rs4758280	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55680063	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7102305	0.81[ASN][1000 genomes]
rs7113729	0.88[ASN][1000 genomes]
rs7114018	0.89[ASN][1000 genomes]
rs7114039	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7932687	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052808	chr11:8011647-8129191	Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv1829170	chr11:8068594-8216369	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv428249	chr11:8068594-8216369	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8075800-8090000	Weak transcription	Spleen	Spleen
2	chr11:8078200-8090400	Enhancers	Adipose Nuclei	Adipose
3	chr11:8078400-8091400	Weak transcription	Esophagus	oesophagus
4	chr11:8080600-8091600	Enhancers	Right Ventricle	heart
5	chr11:8081800-8090000	Weak transcription	Brain Anterior Caudate	brain
6	chr11:8082400-8089800	Weak transcription	Brain Hippocampus Middle	brain
7	chr11:8082800-8093600	Weak transcription	Brain Angular Gyrus	brain
8	chr11:8083000-8089800	Weak transcription	HSMM	muscle
9	chr11:8083000-8090600	Enhancers	Left Ventricle	heart
10	chr11:8083200-8089800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:8083400-8089800	Weak transcription	Colonic Mucosa	Colon
12	chr11:8084800-8089800	Weak transcription	Fetal Intestine Large	intestine
13	chr11:8084800-8089800	Weak transcription	Lung	lung
14	chr11:8084800-8089800	Weak transcription	Psoas Muscle	Psoas
15	chr11:8084800-8090000	Weak transcription	Gastric	stomach
16	chr11:8085200-8089800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:8085200-8090200	Weak transcription	Brain Substantia Nigra	brain
18	chr11:8085200-8090600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr11:8085800-8089800	Weak transcription	NHDF-Ad	bronchial
20	chr11:8085800-8093800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr11:8086000-8089800	Weak transcription	Ovary	ovary
22	chr11:8086200-8090000	Weak transcription	Colon Smooth Muscle	Colon
23	chr11:8086600-8090400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:8087200-8092000	Enhancers	Fetal Heart	heart
25	chr11:8087400-8090400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:8087600-8090000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr11:8087800-8091600	Enhancers	Right Atrium	heart
28	chr11:8088200-8089800	Weak transcription	Osteobl	bone
29	chr11:8088200-8090600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr11:8088400-8090000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:8088400-8090400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr11:8088600-8090000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr11:8088600-8091600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr11:8088800-8089800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:8088800-8090200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:8088800-8091600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr11:8088800-8093600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr11:8088800-8093600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:8089000-8092200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr11:8089000-8092400	Enhancers	Fetal Stomach	stomach
41	chr11:8089200-8090000	Enhancers	Hela-S3	cervix
42	chr11:8089200-8090400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr11:8089200-8090400	Enhancers	Placenta Amnion	Placenta Amnion
44	chr11:8089400-8090200	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr11:8089400-8091600	Enhancers	Placenta	Placenta
46	chr11:8089600-8090000	Enhancers	HSMMtube	muscle
47	chr11:8089600-8090200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:8089600-8090400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:8089600-8090400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:8089600-8090400	Enhancers	NHLF	lung

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