Variant report

Variant	rs560722205
Chromosome Location	chr5:59947679-59947680
allele	A/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	chr5:59947421-59948512	K562	blood:	n/a	n/a
2	CEBPB	chr5:59947390-59948442	IMR90	lung:	n/a	chr5:59948192-59948203

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:59942675..59945605-chr5:59945905..59947831,2	K562	blood:

Variant related genes	Relation type
DEPDC1B	TF binding region
ENSG00000035499	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv492277	chr5:59905195-60180834	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv968916	chr5:59944877-59962647	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv436477	chr5:59946381-59952080	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3469266	chr5:59947655-59949357	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59920600-59947800	Weak transcription	HUVEC	blood vessel
2	chr5:59926400-59967800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:59929400-59954600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:59929600-59948000	Weak transcription	NHEK	skin
5	chr5:59933400-59965200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:59933600-59981000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:59936600-59961400	Weak transcription	Thymus	Thymus
8	chr5:59936800-59961800	Weak transcription	Fetal Thymus	thymus
9	chr5:59940400-59947800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:59940400-59947800	Weak transcription	HSMM	muscle
11	chr5:59940600-59948000	Weak transcription	K562	blood
12	chr5:59940600-59950200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr5:59942800-59952000	Weak transcription	Dnd41	blood
14	chr5:59942800-59961600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:59943400-59947800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:59943400-59952400	Weak transcription	Placenta	Placenta
17	chr5:59943400-59977000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr5:59943800-59952600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:59944400-59952400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:59945000-59961800	Weak transcription	HepG2	liver
21	chr5:59946400-59952400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:59946800-59947800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:59947000-59947800	Enhancers	NHLF	lung
24	chr5:59947200-59948600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr5:59947400-59947800	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr5:59947400-59947800	Enhancers	NH-A	brain
27	chr5:59947400-59947800	Enhancers	NHDF-Ad	bronchial
28	chr5:59947400-59947800	Enhancers	Osteobl	bone
29	chr5:59947400-59948400	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr5:59947400-59948800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:59947400-59949000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr5:59947600-59947800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:59947600-59947800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:59947600-59948200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:59947600-59948200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:59947600-59948200	Enhancers	Placenta Amnion	Placenta Amnion
37	chr5:59947600-59948200	ZNF genes & repeats	A549	lung
38	chr5:59947600-59948200	Enhancers	HMEC	breast
39	chr5:59947600-59948600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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