Variant report

Variant	rs11881551
Chromosome Location	chr19:40573665-40573666
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40570661..40573869-chr19:40576488..40578781,3	K562	blood:
2	chr19:40560764..40563525-chr19:40569476..40573734,4	K562	blood:
3	chr19:40569017..40571965-chr19:40572849..40575602,2	K562	blood:
4	chr19:40560102..40567049-chr19:40567713..40574804,12	K562	blood:

Variant related genes	Relation type
ENSG00000128000	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11878670	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11880843	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11883342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16974069	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55673424	0.86[ASN][1000 genomes]
rs55718963	0.86[ASN][1000 genomes]
rs55838062	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55873814	0.86[ASN][1000 genomes]
rs7250934	0.86[ASN][1000 genomes]
rs73040535	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73040537	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73040542	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73040556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73040573	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73040578	0.91[AMR][1000 genomes];0.89[EUR][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	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40562600-40579200	Weak transcription	Left Ventricle	heart
2	chr19:40562600-40579400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr19:40566000-40580000	Weak transcription	Fetal Heart	heart
4	chr19:40570600-40579800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr19:40571800-40578600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:40571800-40578800	Weak transcription	Brain Germinal Matrix	brain
7	chr19:40571800-40579200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:40571800-40579600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr19:40572400-40578600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr19:40572400-40578800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr19:40572400-40578800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr19:40572400-40579600	Weak transcription	Ovary	ovary
13	chr19:40572400-40580000	Weak transcription	Lung	lung
14	chr19:40572400-40580000	Weak transcription	Pancreas	Pancrea
15	chr19:40572800-40579200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:40572800-40579200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr19:40573000-40579200	Weak transcription	Fetal Brain Female	brain
18	chr19:40573000-40579200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr19:40573000-40579400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr19:40573000-40580000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr19:40573200-40574800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr19:40573400-40574000	Weak transcription	Fetal Stomach	stomach
23	chr19:40573400-40579200	Weak transcription	Fetal Kidney	kidney
24	chr19:40573600-40579000	Weak transcription	HSMM	muscle

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