Variant report

Variant	rs375458732
Chromosome Location	chr2:100630931-100630932
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	chr2:100560855..100563199-chr2:100629509..100631798,2	K562	blood:
2	chr2:100629972..100631740-chr2:100936209..100938926,2	MCF-7	breast:

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	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3392078	chr2:100630420-100635418	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100612000-100634200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:100615600-100638400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:100620600-100635200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:100623600-100632400	Weak transcription	Spleen	Spleen
5	chr2:100623600-100633400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:100623800-100635200	Weak transcription	Brain Angular Gyrus	brain
7	chr2:100624000-100634200	Weak transcription	Adipose Nuclei	Adipose
8	chr2:100624200-100632600	Weak transcription	Gastric	stomach
9	chr2:100624800-100657800	Weak transcription	Brain Germinal Matrix	brain
10	chr2:100625000-100631200	Enhancers	NHDF-Ad	bronchial
11	chr2:100625200-100631200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:100625200-100631200	Enhancers	NHLF	lung
13	chr2:100625200-100634600	Weak transcription	Fetal Thymus	thymus
14	chr2:100625400-100631200	Enhancers	Fetal Heart	heart
15	chr2:100625600-100632600	Weak transcription	Thymus	Thymus
16	chr2:100626600-100632200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:100626600-100632200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:100626600-100632400	Weak transcription	Lung	lung
19	chr2:100626600-100632400	Weak transcription	Dnd41	blood
20	chr2:100626600-100634400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:100626600-100637800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:100626800-100637600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:100627000-100637800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:100627200-100635800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr2:100627600-100631400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:100627800-100631000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:100627800-100637800	Strong transcription	Primary B cells from cord blood	blood
28	chr2:100628000-100633000	Weak transcription	Primary T cells from cord blood	blood
29	chr2:100628200-100635200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr2:100628400-100634600	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:100628600-100631200	Enhancers	Fetal Brain Male	brain
32	chr2:100628600-100632400	Weak transcription	Fetal Kidney	kidney
33	chr2:100628600-100634200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:100628800-100631000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr2:100629000-100632800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:100629200-100631400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:100629200-100631800	Enhancers	Osteobl	bone
38	chr2:100629200-100632000	Enhancers	NH-A	brain
39	chr2:100629200-100632400	Weak transcription	Fetal Lung	lung
40	chr2:100629200-100634200	Weak transcription	Right Atrium	heart
41	chr2:100629400-100631200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:100629400-100649600	Weak transcription	Fetal Brain Female	brain
43	chr2:100629800-100631200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:100629800-100631200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:100630000-100631200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:100630000-100631600	Weak transcription	Primary B cells from peripheral blood	blood
47	chr2:100630200-100631000	Enhancers	Liver	Liver
48	chr2:100630200-100631200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:100630600-100631000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:100630600-100631200	Enhancers	HSMMtube	muscle

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