Variant report

Variant	rs550400993
Chromosome Location	chr2:188859303-188859304
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533353	chr2:188498301-189024655	Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv875597	chr2:188573244-188916290	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1011832	chr2:188631943-188896492	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv536087	chr2:188631943-188896492	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv584041	chr2:188644642-188928433	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv523293	chr2:188774681-188928433	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv470503	chr2:188837548-188896397	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv584043	chr2:188837548-188896397	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv875600	chr2:188857787-188893936	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188850400-188860600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr2:188853200-188860800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:188853600-188861400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:188854800-188861200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:188855200-188859400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:188855400-188859400	Weak transcription	Fetal Thymus	thymus
7	chr2:188855400-188860000	Enhancers	Primary T cells from cord blood	blood
8	chr2:188856000-188860200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:188856000-188861200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:188856400-188861200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:188857000-188859800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:188857600-188860200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:188857600-188861400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr2:188857800-188859800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:188857800-188861000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr2:188858200-188860000	Enhancers	HSMMtube	muscle
17	chr2:188858200-188860200	Enhancers	Fetal Muscle Leg	muscle
18	chr2:188858200-188860400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr2:188858200-188860800	Enhancers	Fetal Heart	heart
20	chr2:188858200-188861400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr2:188858400-188859400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:188858400-188860000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:188858400-188860400	Enhancers	Brain Anterior Caudate	brain
24	chr2:188858400-188860600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:188858600-188859600	Enhancers	Lung	lung
26	chr2:188858600-188859800	Enhancers	Ovary	ovary
27	chr2:188858600-188860000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:188858600-188860000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr2:188858800-188859800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:188858800-188860400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:188858800-188861000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr2:188858800-188864600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:188859000-188859400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:188859000-188859400	Weak transcription	NHDF-Ad	bronchial
35	chr2:188859000-188859600	Enhancers	Primary T cells fromperipheralblood	blood
36	chr2:188859000-188859600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:188859000-188859600	Enhancers	Fetal Muscle Trunk	muscle
38	chr2:188859000-188860400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:188859000-188861200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr2:188859200-188859400	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr2:188859200-188859400	Enhancers	GM12878-XiMat	blood
42	chr2:188859200-188859800	Enhancers	Brain Substantia Nigra	brain
43	chr2:188859200-188859800	Enhancers	Right Ventricle	heart
44	chr2:188859200-188859800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr2:188859200-188860000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:188859200-188860000	Enhancers	Brain Hippocampus Middle	brain
47	chr2:188859200-188860000	Enhancers	Fetal Brain Female	brain
48	chr2:188859200-188860200	Enhancers	Left Ventricle	heart

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