Variant report

Variant	rs549958502
Chromosome Location	chr2:96729342-96729343
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	chr2:96727840..96729450-chr2:98278823..98282139,3	MCF-7	breast:
2	chr2:96729021..96729821-chr2:98313504..98314366,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115073	Chromatin interaction
ENSG00000201806	Chromatin interaction
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	esv1837811	chr2:96622689-96730375	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	esv1836563	chr2:96669134-96730375	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	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
9	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
10	esv3451590	chr2:96726925-96732923	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	esv14131	chr2:96727246-96733710	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	esv3365032	chr2:96727825-96732623	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	esv3390514	chr2:96728125-96732823	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96726400-96730800	Weak transcription	Spleen	Spleen
2	chr2:96726400-96731200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:96726600-96731000	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:96727200-96730200	Enhancers	Brain Cingulate Gyrus	brain
5	chr2:96727200-96730400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr2:96727400-96730000	Enhancers	Brain Hippocampus Middle	brain
7	chr2:96727400-96732800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:96727800-96729600	Enhancers	HMEC	breast
9	chr2:96728000-96729400	Weak transcription	HSMMtube	muscle
10	chr2:96728200-96733800	Weak transcription	Brain Substantia Nigra	brain
11	chr2:96728600-96730200	Enhancers	HSMM	muscle
12	chr2:96728800-96729600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:96728800-96730200	Enhancers	Brain Angular Gyrus	brain
14	chr2:96729000-96729400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:96729000-96729400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:96729000-96729400	Enhancers	A549	lung
17	chr2:96729000-96729400	Flanking Active TSS	HepG2	liver
18	chr2:96729000-96729600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr2:96729000-96730200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:96729200-96729400	Enhancers	GM12878-XiMat	blood
21	chr2:96729200-96729400	Flanking Active TSS	Hela-S3	cervix
22	chr2:96729200-96729400	Enhancers	NH-A	brain
23	chr2:96729200-96729600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr2:96729200-96729600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:96729200-96729600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:96729200-96729600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:96729200-96729600	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr2:96729200-96729600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:96729200-96729600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr2:96729200-96729600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:96729200-96729600	Enhancers	Brain Anterior Caudate	brain
32	chr2:96729200-96729600	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr2:96729200-96729600	Enhancers	NHEK	skin
34	chr2:96729200-96729600	Enhancers	NHLF	lung
35	chr2:96729200-96730200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:96729200-96730200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:96729200-96730200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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