Variant report

Variant	rs538457600
Chromosome Location	chr2:144900050-144900051
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:144892733..144894678-chr2:144896829..144900456,3	K562	blood:
2	chr2:144899258..144902330-chr2:144902942..144905642,3	K562	blood:
3	chr2:144895471..144897745-chr2:144898659..144900274,2	K562	blood:
4	chr2:144898663..144900343-chr2:146340645..146343317,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121964	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1005376	chr2:144803630-144968946	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1013338	chr2:144806920-144969818	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1008032	chr2:144840552-145234229	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv834396	chr2:144842187-145019465	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv963932	chr2:144899453-144903814	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144870200-144909000	Weak transcription	Psoas Muscle	Psoas
2	chr2:144871400-144900600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:144871600-144903200	Weak transcription	Left Ventricle	heart
4	chr2:144872000-144901200	Weak transcription	Fetal Kidney	kidney
5	chr2:144873600-144901400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:144873600-144901400	Weak transcription	Adipose Nuclei	Adipose
7	chr2:144873800-144901800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:144874800-144913200	Weak transcription	Fetal Lung	lung
9	chr2:144877200-144903200	Weak transcription	Ovary	ovary
10	chr2:144883200-144908000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:144891600-144902400	Weak transcription	Fetal Brain Male	brain
12	chr2:144891800-144917400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:144892000-144903000	Weak transcription	Primary T cells from cord blood	blood
14	chr2:144892200-144914400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:144895800-144900400	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:144895800-144901000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:144895800-144901200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:144895800-144901600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:144895800-144902400	Weak transcription	HSMMtube	muscle
20	chr2:144895800-144910000	Weak transcription	NH-A	brain
21	chr2:144896000-144901600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr2:144896200-144901000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:144896400-144901200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:144896400-144909800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:144898600-144901400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr2:144898600-144901400	Weak transcription	NHLF	lung
27	chr2:144898800-144900400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr2:144899000-144900400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr2:144900000-144901000	Weak transcription	Primary B cells from cord blood	blood
30	chr2:144900000-144901600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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