Variant report

Variant	rs56210597
Chromosome Location	chr3:119466928-119466929
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119464205..119467034-chr3:119468589..119471044,2	K562	blood:

Variant related genes	Relation type
ENSG00000183833	Chromatin interaction
ENSG00000239994	Chromatin interaction

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

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

rs_ID	r²[population]
rs11915611	0.92[AFR][1000 genomes]
rs11923444	0.92[AFR][1000 genomes]
rs16830449	0.85[AFR][1000 genomes]
rs56246716	0.92[AFR][1000 genomes]
rs72965049	0.85[AFR][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	nsv1011178	chr3:119437192-119589116	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv536703	chr3:119437192-119589116	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119423200-119471600	Weak transcription	Fetal Kidney	kidney
2	chr3:119428800-119469200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr3:119431200-119470400	Weak transcription	Gastric	stomach
4	chr3:119435400-119478200	Weak transcription	Colon Smooth Muscle	Colon
5	chr3:119450600-119474200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:119451000-119473400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:119451200-119475200	Weak transcription	Fetal Brain Male	brain
8	chr3:119455200-119470200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr3:119456200-119470600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr3:119457600-119472200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr3:119458400-119470000	Weak transcription	Aorta	Aorta
12	chr3:119458800-119471200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr3:119459400-119470000	Weak transcription	Brain Substantia Nigra	brain
14	chr3:119459600-119472200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr3:119460800-119470600	Weak transcription	Left Ventricle	heart
16	chr3:119463200-119476000	Weak transcription	Spleen	Spleen
17	chr3:119463400-119469400	Weak transcription	Brain Hippocampus Middle	brain
18	chr3:119463600-119470000	Weak transcription	Pancreas	Pancrea
19	chr3:119464000-119470600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr3:119464800-119469200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr3:119465000-119470000	Weak transcription	Ovary	ovary
22	chr3:119465600-119474400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:119466200-119471200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:119466400-119470200	Weak transcription	Brain Angular Gyrus	brain
25	chr3:119466600-119468000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr3:119466600-119469000	Weak transcription	Brain Anterior Caudate	brain
27	chr3:119466800-119470000	Weak transcription	HUVEC	blood vessel

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