Variant report

Variant	rs573695171
Chromosome Location	chr2:172856032-172856033
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	chr2:172854755..172858699-chr2:172956896..172962268,5	MCF-7	breast:
2	chr2:172855091..172858063-chr2:172947912..172950792,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144355	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1012188	chr2:172855923-172928891	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172810000-172862600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:172813000-172859200	Weak transcription	Fetal Brain Male	brain
3	chr2:172821000-172862800	Weak transcription	Brain Angular Gyrus	brain
4	chr2:172824000-172857800	Weak transcription	Brain Anterior Caudate	brain
5	chr2:172824000-172857800	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:172840800-172857600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:172844200-172857200	Weak transcription	Brain Germinal Matrix	brain
8	chr2:172844400-172857400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:172845200-172857600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:172846000-172857600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:172847400-172864000	Weak transcription	HSMM	muscle
12	chr2:172847800-172857600	Weak transcription	Ovary	ovary
13	chr2:172848000-172863200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:172849200-172856600	Weak transcription	Left Ventricle	heart
15	chr2:172849200-172857200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:172849200-172857400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:172849600-172863800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:172850400-172860600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr2:172851000-172856800	Weak transcription	Dnd41	blood
20	chr2:172851600-172857600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:172855600-172856400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:172855600-172856400	Enhancers	Fetal Heart	heart
23	chr2:172856000-172856600	Enhancers	K562	blood

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