Variant report

Variant	rs188519257
Chromosome Location	chr2:54895572-54895573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54881497..54884426-chr2:54893796..54895669,2	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54841200-54897800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:54846400-54895600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:54846400-54896600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:54846600-54898000	Strong transcription	Dnd41	blood
5	chr2:54861800-54898600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:54862200-54896600	Strong transcription	Primary hematopoietic stem cells	blood
7	chr2:54862600-54898400	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr2:54863000-54898600	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr2:54863000-54899400	Strong transcription	Primary T cells from cord blood	blood
10	chr2:54863600-54897000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
11	chr2:54863800-54897400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:54863800-54898600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr2:54865400-54898400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr2:54865800-54898200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:54866400-54897200	Strong transcription	Primary B cells from cord blood	blood
16	chr2:54867200-54897800	Strong transcription	Primary B cells from peripheral blood	blood
17	chr2:54867200-54898200	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr2:54868800-54898600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:54869000-54896400	Strong transcription	Colonic Mucosa	Colon
20	chr2:54869600-54898600	Strong transcription	Fetal Thymus	thymus
21	chr2:54869800-54897600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:54878400-54897000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:54879600-54898400	Strong transcription	GM12878-XiMat	blood
24	chr2:54880200-54898400	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr2:54880200-54898400	Strong transcription	Thymus	Thymus
26	chr2:54883000-54899400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:54885000-54896400	Strong transcription	Hela-S3	cervix
28	chr2:54886800-54896600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:54889200-54898600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:54890000-54896400	Genic enhancers	Liver	Liver
31	chr2:54890800-54895600	Genic enhancers	Left Ventricle	heart
32	chr2:54890800-54898200	Genic enhancers	Brain Inferior Temporal Lobe	brain
33	chr2:54891000-54899400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:54891200-54899800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr2:54891400-54895600	Genic enhancers	Lung	lung
36	chr2:54891400-54896000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:54891400-54896600	Genic enhancers	Placenta	Placenta
38	chr2:54891600-54895800	Enhancers	Right Atrium	heart
39	chr2:54891600-54898000	Genic enhancers	Brain Hippocampus Middle	brain
40	chr2:54891800-54897800	Genic enhancers	NHLF	lung
41	chr2:54892000-54897600	Genic enhancers	Fetal Lung	lung
42	chr2:54892000-54897800	Genic enhancers	Brain Cingulate Gyrus	brain
43	chr2:54892200-54895600	Genic enhancers	Fetal Stomach	stomach
44	chr2:54892200-54897600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:54892400-54897800	Genic enhancers	Brain Substantia Nigra	brain
46	chr2:54892400-54897800	Genic enhancers	NHDF-Ad	bronchial
47	chr2:54892400-54898000	Genic enhancers	Rectal Smooth Muscle	rectum
48	chr2:54892400-54898200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:54892400-54898200	Genic enhancers	Adipose Nuclei	Adipose
50	chr2:54892600-54895600	Genic enhancers	Right Ventricle	heart

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