Variant report

Variant	rs2288251
Chromosome Location	chr11:19206426-19206427
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:19205080..19208780-chr11:19260743..19265048,4	K562	blood:

Variant related genes	Relation type
ENSG00000129173	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10741762	0.80[JPT][hapmap]
rs11025056	0.80[JPT][hapmap]
rs1648233	0.80[JPT][hapmap]
rs7102888	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7130460	0.86[MKK][hapmap]

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	nsv1040805	chr11:19037871-19892803	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv540957	chr11:19037871-19892803	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:19172200-19208600	Weak transcription	Brain Substantia Nigra	brain
2	chr11:19174000-19209000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:19176400-19213400	Weak transcription	Psoas Muscle	Psoas
4	chr11:19187200-19208200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:19194600-19209600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:19194600-19213400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:19195200-19208800	Weak transcription	HMEC	breast
8	chr11:19195200-19209400	Weak transcription	Brain Germinal Matrix	brain
9	chr11:19195600-19207600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:19195600-19208800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr11:19195800-19211000	Weak transcription	Esophagus	oesophagus
12	chr11:19196200-19213200	Weak transcription	Fetal Intestine Small	intestine
13	chr11:19196200-19213200	Weak transcription	Pancreas	Pancrea
14	chr11:19196400-19208600	Weak transcription	Brain Hippocampus Middle	brain
15	chr11:19196400-19208800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:19196400-19209000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:19197800-19209000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr11:19198800-19208800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr11:19199000-19208600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:19199000-19209000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:19199000-19209600	Weak transcription	Brain Anterior Caudate	brain
22	chr11:19199000-19212800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:19199600-19209200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr11:19201800-19212800	Strong transcription	Left Ventricle	heart
25	chr11:19202000-19208600	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr11:19202400-19206800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr11:19204800-19212800	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr11:19205000-19209000	Strong transcription	Right Ventricle	heart
29	chr11:19205400-19208000	Genic enhancers	Fetal Muscle Leg	muscle
30	chr11:19205600-19211000	Genic enhancers	Fetal Heart	heart
31	chr11:19206400-19208600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:19206400-19210000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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