Variant report

Variant	rs57550064
Chromosome Location	chr11:66675371-66675372
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11538048	1.00[AMR][1000 genomes]
rs55962689	1.00[AMR][1000 genomes]
rs56049904	1.00[AMR][1000 genomes]
rs56194916	1.00[AMR][1000 genomes]
rs56705397	1.00[AMR][1000 genomes]
rs56728386	1.00[AMR][1000 genomes]
rs57237794	1.00[AMR][1000 genomes]
rs57241231	1.00[AMR][1000 genomes]
rs57508396	1.00[AMR][1000 genomes]
rs57630565	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58201175	1.00[AMR][1000 genomes]
rs59663951	1.00[AMR][1000 genomes]
rs59868470	1.00[AMR][1000 genomes]
rs60523317	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897794	chr11:66579572-66744119	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv428574	chr11:66619002-66804133	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv832194	chr11:66634462-66805980	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
5	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66651400-66678400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr11:66671200-66677000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr11:66671600-66676000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:66672200-66675400	Weak transcription	Fetal Intestine Small	intestine
5	chr11:66672200-66675800	Flanking Active TSS	Liver	Liver
6	chr11:66672200-66676000	Enhancers	Brain Cingulate Gyrus	brain
7	chr11:66672200-66684000	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr11:66672600-66675400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:66672600-66675400	Enhancers	Gastric	stomach
10	chr11:66672600-66675600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:66672600-66677200	Enhancers	Brain Substantia Nigra	brain
12	chr11:66672600-66680000	Weak transcription	HUVEC	blood vessel
13	chr11:66672600-66683000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:66672800-66675600	Enhancers	A549	lung
15	chr11:66672800-66676200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:66673200-66676600	Enhancers	Placenta	Placenta
17	chr11:66673400-66675400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:66673600-66676000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr11:66673600-66676000	Enhancers	Fetal Kidney	kidney
20	chr11:66673600-66676400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr11:66673600-66678000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr11:66673800-66675800	Enhancers	Fetal Muscle Trunk	muscle
23	chr11:66673800-66676000	Enhancers	Stomach Mucosa	stomach
24	chr11:66673800-66676200	Enhancers	Ovary	ovary
25	chr11:66673800-66676600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:66674000-66676000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:66674000-66687000	Weak transcription	HSMMtube	muscle
28	chr11:66674200-66675400	Enhancers	Fetal Thymus	thymus
29	chr11:66674200-66675400	Weak transcription	K562	blood
30	chr11:66674200-66675800	Flanking Active TSS	HepG2	liver
31	chr11:66674200-66676400	Weak transcription	Fetal Brain Female	brain
32	chr11:66674200-66677000	Enhancers	Adipose Nuclei	Adipose
33	chr11:66674200-66677800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr11:66674200-66679600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:66674200-66680000	Weak transcription	Brain Germinal Matrix	brain
36	chr11:66674400-66675400	Enhancers	HMEC	breast
37	chr11:66674400-66675600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:66674400-66677800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr11:66674400-66677800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr11:66674400-66679400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr11:66674400-66679600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr11:66674400-66679600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:66674400-66679600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr11:66674400-66679800	Weak transcription	Brain Anterior Caudate	brain
45	chr11:66674400-66689600	Weak transcription	NHLF	lung
46	chr11:66674600-66675400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:66674600-66675600	Weak transcription	Brain Angular Gyrus	brain
48	chr11:66674600-66676000	Weak transcription	Colonic Mucosa	Colon
49	chr11:66674600-66677000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr11:66674600-66677200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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