Variant report

Variant	rs537055540
Chromosome Location	chr2:96731208-96731209
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:96731019..96733745-chr2:98305236..98308160,2	MCF-7	breast:
2	chr2:96730056..96731818-chr2:96841828..96843515,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228486	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1840487	chr2:96582807-96836512	Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv870250	chr2:96610946-96739308	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv874672	chr2:96637870-96809331	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv874673	chr2:96647856-96825363	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv874674	chr2:96651163-96741944	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv993391	chr2:96671521-96731854	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv1825266	chr2:96704118-96830753	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
8	esv3451590	chr2:96726925-96732923	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv14131	chr2:96727246-96733710	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	esv3365032	chr2:96727825-96732623	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	esv3390514	chr2:96728125-96732823	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	esv14510	chr2:96729895-96731750	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv821512	chr2:96729895-96731750	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96727400-96732800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:96728200-96733800	Weak transcription	Brain Substantia Nigra	brain
3	chr2:96729400-96734000	Weak transcription	A549	lung
4	chr2:96729600-96731600	Weak transcription	Hela-S3	cervix
5	chr2:96729600-96733400	Weak transcription	Brain Anterior Caudate	brain
6	chr2:96729600-96733800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:96729600-96733800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:96729600-96734000	Weak transcription	HMEC	breast
9	chr2:96730000-96733800	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:96730200-96733800	Weak transcription	Brain Angular Gyrus	brain
11	chr2:96730200-96735800	Weak transcription	HSMM	muscle
12	chr2:96730200-96735800	Weak transcription	HSMMtube	muscle
13	chr2:96730200-96736000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:96730200-96737000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:96730400-96736000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:96730800-96731600	Enhancers	Spleen	Spleen
17	chr2:96731000-96731600	Enhancers	Fetal Muscle Leg	muscle
18	chr2:96731000-96732000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr2:96731000-96733000	Enhancers	HepG2	liver
20	chr2:96731200-96731600	Enhancers	Fetal Muscle Trunk	muscle
21	chr2:96731200-96731800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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