Variant report

Variant	rs7548
Chromosome Location	chr11:86153911-86153912
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	chr11:86152679..86155183-chr11:86156191..86160903,4	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10501617	0.81[EUR][1000 genomes]
rs10501618	0.81[EUR][1000 genomes]
rs11234642	0.83[EUR][1000 genomes]
rs11234649	0.82[EUR][1000 genomes]
rs11234656	0.83[EUR][1000 genomes]
rs11607319	0.83[EUR][1000 genomes]
rs12272337	0.83[EUR][1000 genomes]
rs12272824	0.82[EUR][1000 genomes]
rs12274297	0.83[EUR][1000 genomes]
rs12289721	0.83[EUR][1000 genomes]
rs1452135	0.83[EUR][1000 genomes]
rs1597792	0.83[EUR][1000 genomes]
rs1839940	0.83[EUR][1000 genomes]
rs28436284	0.83[EUR][1000 genomes]
rs3741006	0.83[EUR][1000 genomes]
rs4586193	0.82[EUR][1000 genomes]
rs4943940	0.83[EUR][1000 genomes]
rs4944571	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944573	0.82[EUR][1000 genomes]
rs4944574	0.83[EUR][1000 genomes]
rs4944576	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944578	0.83[EUR][1000 genomes]
rs55734103	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59419027	0.85[EUR][1000 genomes]
rs7120275	0.83[EUR][1000 genomes]
rs7926796	0.83[EUR][1000 genomes]
rs7930223	0.83[EUR][1000 genomes]
rs7932498	0.81[EUR][1000 genomes]
rs7932514	0.82[EUR][1000 genomes]
rs7947537	0.82[EUR][1000 genomes]
rs7949910	0.83[EUR][1000 genomes]
rs9795296	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86136800-86170200	Weak transcription	Fetal Heart	heart
2	chr11:86138600-86167400	Weak transcription	Fetal Lung	lung
3	chr11:86140800-86155800	Weak transcription	Psoas Muscle	Psoas
4	chr11:86142000-86167400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr11:86142600-86155000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr11:86142600-86156000	Weak transcription	Spleen	Spleen
7	chr11:86142800-86157600	Weak transcription	Gastric	stomach
8	chr11:86145400-86167400	Weak transcription	Pancreas	Pancrea
9	chr11:86148200-86154600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr11:86149200-86154400	Weak transcription	Fetal Intestine Large	intestine
11	chr11:86149400-86154800	Enhancers	NHDF-Ad	bronchial
12	chr11:86149800-86158600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:86150200-86156200	Weak transcription	Colon Smooth Muscle	Colon
14	chr11:86150200-86158400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:86150200-86167400	Weak transcription	Stomach Mucosa	stomach
16	chr11:86150600-86155000	Strong transcription	Ovary	ovary
17	chr11:86150600-86159400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:86150800-86154200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:86151000-86154000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:86151000-86154200	Enhancers	NHLF	lung
21	chr11:86151000-86155000	Strong transcription	Left Ventricle	heart
22	chr11:86151000-86159200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:86151200-86158600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:86151200-86159800	Strong transcription	Fetal Brain Female	brain
25	chr11:86151200-86159800	Strong transcription	Fetal Stomach	stomach
26	chr11:86151400-86158400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:86151600-86154200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:86151800-86154800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:86151800-86167400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:86151800-86167400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr11:86152000-86154800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:86152000-86155000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:86152000-86158600	Strong transcription	Brain Germinal Matrix	brain
34	chr11:86152200-86154600	Strong transcription	Fetal Muscle Leg	muscle
35	chr11:86152200-86159400	Strong transcription	Adipose Nuclei	Adipose
36	chr11:86152400-86156400	Weak transcription	Brain Hippocampus Middle	brain
37	chr11:86152400-86164000	Weak transcription	Brain Substantia Nigra	brain
38	chr11:86152400-86172200	Weak transcription	Fetal Brain Male	brain
39	chr11:86152600-86154000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr11:86152600-86154400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr11:86152600-86158600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:86152600-86159600	Strong transcription	Stomach Smooth Muscle	stomach
43	chr11:86153000-86161200	Weak transcription	Colonic Mucosa	Colon
44	chr11:86153200-86154600	Enhancers	Hela-S3	cervix
45	chr11:86153200-86157200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:86153200-86159200	Weak transcription	Primary T cells from cord blood	blood
47	chr11:86153200-86187000	Weak transcription	Fetal Kidney	kidney
48	chr11:86153400-86154000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:86153400-86154000	Enhancers	A549	lung
50	chr11:86153400-86154000	Enhancers	HSMM	muscle

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