Variant report

Variant	rs193113731
Chromosome Location	chr2:72791230-72791231
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	chr2:72783993..72785922-chr2:72791174..72793181,2	K562	blood:
2	chr2:72790315..72792488-chr2:72796199..72797805,2	K562	blood:

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

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1008335	chr2:72561463-72819704	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv874264	chr2:72593243-72901170	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv582208	chr2:72690622-72835886	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv834257	chr2:72701083-72853548	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv874265	chr2:72789764-72982609	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 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	chr2:72775000-72808800	Weak transcription	Ovary	ovary
2	chr2:72783400-72792200	Weak transcription	Left Ventricle	heart
3	chr2:72783600-72793600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:72784000-72800800	Weak transcription	Placenta	Placenta
5	chr2:72784200-72799600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:72786000-72803800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr2:72789000-72792200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr2:72789200-72803600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:72789400-72803400	Weak transcription	Adipose Nuclei	Adipose
10	chr2:72789800-72791400	Enhancers	HUVEC	blood vessel
11	chr2:72789800-72799200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:72789800-72803600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:72790000-72791400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:72790000-72791400	Weak transcription	Fetal Heart	heart
15	chr2:72790000-72792000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:72790000-72797200	Weak transcription	HSMM	muscle
17	chr2:72790000-72798800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:72790000-72803200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:72790000-72804200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:72790200-72791800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:72790200-72791800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:72790200-72794600	Weak transcription	Osteobl	bone
23	chr2:72790200-72801400	Weak transcription	HepG2	liver
24	chr2:72790400-72791600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:72790400-72794000	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:72790400-72794600	Weak transcription	A549	lung
27	chr2:72790600-72794600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:72791000-72799400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:72791200-72791800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:72791200-72791800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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