Variant report

Variant	rs193196025
Chromosome Location	chr2:212272865-212272866
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:212242066..212245151-chr2:212271494..212274404,3	MCF-7	breast:
2	chr2:212272741..212273872-chr2:212287513..212288333,3	MCF-7	breast:
3	chr2:212192196..212193825-chr2:212271514..212273497,2	MCF-7	breast:
4	chr2:212269284..212272087-chr2:212272450..212275433,2	MCF-7	breast:
5	chr2:212258790..212260416-chr2:212272383..212274014,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834523	chr2:212163236-212331393	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv584314	chr2:212238982-212292521	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
3	nsv460065	chr2:212244520-212276710	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
4	nsv584315	chr2:212244520-212276710	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
5	nsv1000722	chr2:212272622-212465143	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212271000-212275000	Enhancers	Fetal Brain Male	brain
2	chr2:212271200-212274200	Enhancers	HUVEC	blood vessel
3	chr2:212271400-212273800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:212271600-212273800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:212271600-212273800	Enhancers	NHEK	skin
6	chr2:212272000-212273000	Enhancers	A549	lung
7	chr2:212272000-212274400	Enhancers	Hela-S3	cervix
8	chr2:212272200-212273400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:212272200-212273400	Enhancers	Brain Anterior Caudate	brain
10	chr2:212272200-212273600	Enhancers	NH-A	brain
11	chr2:212272200-212275200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:212272400-212273600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:212272400-212273800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:212272400-212274200	Enhancers	HSMM	muscle
15	chr2:212272400-212274400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:212272600-212273200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:212272600-212273400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr2:212272600-212273600	Enhancers	Brain Substantia Nigra	brain
19	chr2:212272600-212275200	Enhancers	Brain Germinal Matrix	brain
20	chr2:212272800-212274000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:212272800-212274000	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr2:212272800-212274200	Enhancers	HSMMtube	muscle

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