Variant report

Variant	rs187490435
Chromosome Location	chr5:114600544-114600545
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:114600531-114600780	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr5:114600377-114600618	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:114598595..114600612-chr5:114607394..114609348,2	MCF-7	breast:
2	chr5:114599500..114601272-chr5:114611165..114613598,2	K562	blood:
3	chr5:114599046..114601822-chr5:114630160..114632443,2	K562	blood:

Variant related genes	Relation type
PGGT1B	TF binding region
ENSG00000164221	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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114598800-114600600	Weak transcription	Lung	lung
2	chr5:114598800-114602600	Weak transcription	Spleen	Spleen
3	chr5:114598800-114608200	Weak transcription	Small Intestine	intestine
4	chr5:114598800-114612200	Weak transcription	Gastric	stomach
5	chr5:114598800-114613000	Weak transcription	Esophagus	oesophagus
6	chr5:114599000-114600600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:114599000-114601000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:114599000-114601600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr5:114599000-114603200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:114599000-114606200	Weak transcription	HSMMtube	muscle
11	chr5:114599000-114606400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:114599000-114606400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr5:114599000-114608800	Weak transcription	Brain Substantia Nigra	brain
14	chr5:114599000-114610200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr5:114599000-114610200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:114599000-114610400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr5:114599000-114610600	Weak transcription	Pancreas	Pancrea
18	chr5:114599000-114610600	Weak transcription	NHLF	lung
19	chr5:114599000-114612200	Weak transcription	Right Ventricle	heart
20	chr5:114599000-114612800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr5:114599000-114612800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr5:114599000-114612800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:114599000-114612800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr5:114599000-114612800	Weak transcription	Fetal Intestine Large	intestine
25	chr5:114599000-114612800	Weak transcription	Fetal Thymus	thymus
26	chr5:114599000-114614200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:114599000-114617000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:114599000-114617200	Weak transcription	Thymus	Thymus
29	chr5:114599000-114624000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:114599000-114626600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr5:114599000-114630800	Weak transcription	Psoas Muscle	Psoas
32	chr5:114599000-114631200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr5:114599000-114631200	Weak transcription	HSMM	muscle
34	chr5:114599000-114631400	Weak transcription	Left Ventricle	heart
35	chr5:114599200-114600600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:114599200-114601000	Weak transcription	HMEC	breast
37	chr5:114599200-114602400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:114599200-114602400	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr5:114599200-114603000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr5:114599200-114603000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:114599200-114603000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr5:114599200-114603000	Weak transcription	NHDF-Ad	bronchial
43	chr5:114599200-114603200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:114599200-114603400	Weak transcription	Osteobl	bone
45	chr5:114599200-114603600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:114599200-114603600	Weak transcription	HUVEC	blood vessel
47	chr5:114599200-114606200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr5:114599200-114606200	Weak transcription	Primary T cells from cord blood	blood
49	chr5:114599200-114606200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr5:114599200-114606200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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