Variant report

Variant	rs544490689
Chromosome Location	chr2:64313685-64313686
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	chr2:64309179..64310802-chr2:64312636..64314949,2	MCF-7	breast:

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	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv34698	chr2:64312142-64521366	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	esv34955	chr2:64312182-64521290	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 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	chr2:64302000-64318200	Weak transcription	Fetal Intestine Large	intestine
2	chr2:64303400-64318400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:64303800-64318400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:64304200-64321600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:64305800-64318000	Weak transcription	Fetal Intestine Small	intestine
6	chr2:64307000-64318400	Weak transcription	Placenta	Placenta
7	chr2:64307600-64318400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:64309600-64317200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:64309600-64320800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:64311400-64321800	Weak transcription	Small Intestine	intestine
11	chr2:64311600-64314400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:64311800-64316800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:64311800-64321200	Weak transcription	K562	blood
14	chr2:64311800-64321800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:64311800-64321800	Weak transcription	Brain Germinal Matrix	brain
16	chr2:64312000-64317200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:64312200-64318400	Weak transcription	Liver	Liver
18	chr2:64312800-64314400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:64312800-64321200	Weak transcription	Psoas Muscle	Psoas
20	chr2:64313000-64314600	Enhancers	Primary B cells from peripheral blood	blood
21	chr2:64313200-64314200	Flanking Active TSS	GM12878-XiMat	blood
22	chr2:64313200-64321200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:64313200-64321400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:64313200-64321600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:64313200-64321800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:64313200-64341800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:64313400-64313800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:64313400-64315400	Weak transcription	HepG2	liver
29	chr2:64313400-64318400	Weak transcription	Adipose Nuclei	Adipose
30	chr2:64313400-64321800	Weak transcription	Brain Angular Gyrus	brain
31	chr2:64313400-64321800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:64313600-64313800	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr2:64313600-64316600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:64313600-64317800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:64313600-64320600	Weak transcription	Fetal Lung	lung
36	chr2:64313600-64321800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:64313600-64323000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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