Variant report

Variant	rs549398416
Chromosome Location	chr2:63606458-63606459
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:63574920..63576944-chr2:63604308..63606529,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1006848	chr2:63061816-63631407	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv535768	chr2:63413596-63631407	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv834241	chr2:63490262-63668205	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1013613	chr2:63545598-63606689	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1002047	chr2:63584797-63648782	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv874234	chr2:63606001-63666590	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63572000-63624000	Weak transcription	Left Ventricle	heart
2	chr2:63581400-63622000	Weak transcription	Ovary	ovary
3	chr2:63584200-63621800	Weak transcription	Primary B cells from cord blood	blood
4	chr2:63595000-63612200	Weak transcription	HSMM	muscle
5	chr2:63595200-63631200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:63597800-63649200	Weak transcription	Fetal Lung	lung
7	chr2:63598000-63611000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:63598800-63631200	Weak transcription	Dnd41	blood
9	chr2:63599000-63631000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:63599200-63621800	Weak transcription	Adipose Nuclei	Adipose
11	chr2:63599400-63607000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:63599400-63609000	Weak transcription	Gastric	stomach
13	chr2:63599400-63631200	Weak transcription	Aorta	Aorta
14	chr2:63599400-63631600	Weak transcription	Pancreas	Pancrea
15	chr2:63599800-63631200	Weak transcription	Thymus	Thymus
16	chr2:63600600-63608200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:63600800-63614800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:63602400-63610400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr2:63603600-63611200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:63603800-63606600	Weak transcription	Liver	Liver
21	chr2:63604000-63613600	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr2:63604200-63617600	Weak transcription	Fetal Heart	heart
23	chr2:63605000-63642400	Weak transcription	HSMMtube	muscle
24	chr2:63605400-63606800	Enhancers	NHEK	skin
25	chr2:63605400-63609200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr2:63605600-63606800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:63605600-63606800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:63605600-63606800	Enhancers	K562	blood
29	chr2:63605600-63607000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr2:63605600-63607000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr2:63605600-63607000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr2:63605600-63631200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr2:63605800-63606800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:63605800-63606800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:63605800-63608400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:63605800-63624800	Weak transcription	Primary T cells from cord blood	blood
37	chr2:63605800-63631200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:63606000-63606800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr2:63606000-63610400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:63606000-63632800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:63606200-63606800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr2:63606400-63609400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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