Variant report

Variant	rs550999969
Chromosome Location	chr2:210552943-210552944
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr2:210552751-210553022	HL-60	blood:	n/a	chr2:210552887-210552900 chr2:210552888-210552901 chr2:210552888-210552901
2	POLR2A	chr2:210552121-210552952	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
MAP2	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875765	chr2:210537660-210618203	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1009129	chr2:210550858-210681136	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv963903	chr2:210552854-210561374	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210531400-210587800	Weak transcription	Brain Angular Gyrus	brain
2	chr2:210537000-210596800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:210541800-210596400	Weak transcription	Gastric	stomach
4	chr2:210542000-210555400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:210544000-210596600	Weak transcription	Ovary	ovary
6	chr2:210544200-210555200	Weak transcription	Left Ventricle	heart
7	chr2:210544400-210598600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:210546400-210554800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:210546800-210560000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:210549200-210559600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:210550800-210557400	Weak transcription	Brain Anterior Caudate	brain
12	chr2:210550800-210557400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:210551400-210553600	Enhancers	HMEC	breast
14	chr2:210551400-210557600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:210551400-210561400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:210552000-210553000	Genic enhancers	Fetal Brain Female	brain
17	chr2:210552000-210553400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:210552200-210553000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:210552200-210553000	Enhancers	NHEK	skin
20	chr2:210552400-210553000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:210552400-210561800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:210552600-210555200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:210552800-210554200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:210552800-210554800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:210552800-210555000	Weak transcription	Fetal Brain Male	brain
26	chr2:210552800-210555200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:210552800-210555400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:210552800-210555400	Weak transcription	Aorta	Aorta
29	chr2:210552800-210555400	Weak transcription	Brain Germinal Matrix	brain
30	chr2:210552800-210557400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:210552800-210599400	Weak transcription	Pancreas	Pancrea

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