Variant report

Variant	rs554979693
Chromosome Location	chr2:86898422-86898423
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86848186..86849985-chr2:86897353..86900305,2	MCF-7	breast:
2	chr2:86895644..86897358-chr2:86897383..86900357,2	MCF-7	breast:
3	chr2:86849384..86851412-chr2:86897140..86899162,2	MCF-7	breast:
4	chr2:86856951..86859444-chr2:86896714..86898569,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239305	Chromatin interaction
ENSG00000249884	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1011590	chr2:86824181-86906114	Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv829489	chr2:86896770-86899157	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3435422	chr2:86898215-86898431	Enhancers Weak transcription	Chromatin interactive region	2 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	chr2:86891800-86898600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:86892000-86901200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:86897400-86899000	Enhancers	Colon Smooth Muscle	Colon
4	chr2:86897600-86898600	Enhancers	Right Atrium	heart
5	chr2:86897600-86898600	Weak transcription	A549	lung
6	chr2:86897600-86898800	Enhancers	Right Ventricle	heart
7	chr2:86897600-86899000	Enhancers	Placenta	Placenta
8	chr2:86897600-86899000	Enhancers	Left Ventricle	heart
9	chr2:86897600-86899000	Enhancers	Pancreas	Pancrea
10	chr2:86897600-86899600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr2:86898000-86898600	Weak transcription	Lung	lung
12	chr2:86898000-86899600	Enhancers	Stomach Mucosa	stomach
13	chr2:86898000-86899600	Enhancers	Hela-S3	cervix
14	chr2:86898200-86898800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr2:86898200-86898800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:86898200-86898800	Enhancers	Ovary	ovary
17	chr2:86898200-86899000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:86898200-86899000	Enhancers	Brain Substantia Nigra	brain
19	chr2:86898200-86899000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:86898200-86899000	Enhancers	Rectal Smooth Muscle	rectum
21	chr2:86898200-86899600	Enhancers	Liver	Liver
22	chr2:86898200-86901000	Enhancers	HepG2	liver
23	chr2:86898400-86898800	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr2:86898400-86899000	Enhancers	Brain Angular Gyrus	brain
25	chr2:86898400-86899000	Enhancers	Brain Cingulate Gyrus	brain
26	chr2:86898400-86899000	Enhancers	Brain Hippocampus Middle	brain
27	chr2:86898400-86899000	Enhancers	Duodenum Mucosa	Duodenum
28	chr2:86898400-86899000	Enhancers	Fetal Heart	heart
29	chr2:86898400-86899000	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr2:86898400-86899000	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr2:86898400-86899200	Enhancers	HUVEC	blood vessel
32	chr2:86898400-86900600	Enhancers	Fetal Intestine Large	intestine

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