Variant report

Variant	rs563262221
Chromosome Location	chr5:114601198-114601199
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:114599500..114601272-chr5:114611165..114613598,2	K562	blood:
2	chr5:114598026..114600265-chr5:114601043..114603821,2	K562	blood:
3	chr5:114599046..114601822-chr5:114630160..114632443,2	K562	blood:

Variant related genes	Relation type
ENSG00000271797	Chromatin interaction
ENSG00000164221	Chromatin interaction
ENSG00000164219	Chromatin interaction

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	nsv830454	chr5:114453864-114607159	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv968977	chr5:114599737-114602288	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114598800-114602600	Weak transcription	Spleen	Spleen
2	chr5:114598800-114608200	Weak transcription	Small Intestine	intestine
3	chr5:114598800-114612200	Weak transcription	Gastric	stomach
4	chr5:114598800-114613000	Weak transcription	Esophagus	oesophagus
5	chr5:114599000-114601600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:114599000-114603200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:114599000-114606200	Weak transcription	HSMMtube	muscle
8	chr5:114599000-114606400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:114599000-114606400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr5:114599000-114608800	Weak transcription	Brain Substantia Nigra	brain
11	chr5:114599000-114610200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:114599000-114610200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:114599000-114610400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr5:114599000-114610600	Weak transcription	Pancreas	Pancrea
15	chr5:114599000-114610600	Weak transcription	NHLF	lung
16	chr5:114599000-114612200	Weak transcription	Right Ventricle	heart
17	chr5:114599000-114612800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr5:114599000-114612800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr5:114599000-114612800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:114599000-114612800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr5:114599000-114612800	Weak transcription	Fetal Intestine Large	intestine
22	chr5:114599000-114612800	Weak transcription	Fetal Thymus	thymus
23	chr5:114599000-114614200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:114599000-114617000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:114599000-114617200	Weak transcription	Thymus	Thymus
26	chr5:114599000-114624000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:114599000-114626600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr5:114599000-114630800	Weak transcription	Psoas Muscle	Psoas
29	chr5:114599000-114631200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr5:114599000-114631200	Weak transcription	HSMM	muscle
31	chr5:114599000-114631400	Weak transcription	Left Ventricle	heart
32	chr5:114599200-114602400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:114599200-114602400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr5:114599200-114603000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr5:114599200-114603000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:114599200-114603000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr5:114599200-114603000	Weak transcription	NHDF-Ad	bronchial
38	chr5:114599200-114603200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:114599200-114603400	Weak transcription	Osteobl	bone
40	chr5:114599200-114603600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:114599200-114603600	Weak transcription	HUVEC	blood vessel
42	chr5:114599200-114606200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr5:114599200-114606200	Weak transcription	Primary T cells from cord blood	blood
44	chr5:114599200-114606200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr5:114599200-114606200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr5:114599200-114606400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr5:114599200-114606400	Weak transcription	Primary B cells from cord blood	blood
48	chr5:114599200-114606400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr5:114599200-114606400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr5:114599200-114608000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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