Variant report

Variant	rs566275468
Chromosome Location	chr5:59992453-59992454
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:59978724..59981449-chr5:59990551..59993454,2	K562	blood:
2	chr5:59933171..59934818-chr5:59991480..59994360,2	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	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	nsv462198	chr5:59969015-60116613	Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv598298	chr5:59969015-60116613	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1023403	chr5:59969534-60079822	Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv4850	chr5:59976186-60039810	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv508362	chr5:59990308-60050894	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
8	esv1816307	chr5:59992305-60012235	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59969600-59994800	Weak transcription	Fetal Lung	lung
2	chr5:59971000-59993800	Weak transcription	NHLF	lung
3	chr5:59971000-59994000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:59971000-59994200	Weak transcription	NH-A	brain
5	chr5:59974200-59994200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr5:59974400-59993600	Weak transcription	Hela-S3	cervix
7	chr5:59977200-59994800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:59980200-59995200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:59981800-59994200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:59982400-59993600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:59982600-59994800	Weak transcription	Fetal Muscle Leg	muscle
12	chr5:59982800-59993800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:59982800-59994800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr5:59982800-59994800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr5:59983000-59992800	Weak transcription	NHEK	skin
16	chr5:59983000-59994000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr5:59983000-59994000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr5:59983000-59994000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:59983000-59994200	Weak transcription	Thymus	Thymus
20	chr5:59983000-59994600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr5:59983000-59994800	Weak transcription	Fetal Thymus	thymus
22	chr5:59983000-59994800	Weak transcription	HSMM	muscle
23	chr5:59983200-59993800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr5:59983200-59993800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr5:59984200-59993000	Weak transcription	NHDF-Ad	bronchial
26	chr5:59984600-59993000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:59984600-59994000	Weak transcription	Fetal Heart	heart
28	chr5:59984600-59994800	Weak transcription	Fetal Intestine Small	intestine
29	chr5:59986800-59994000	Weak transcription	Osteobl	bone
30	chr5:59991400-59992600	Weak transcription	GM12878-XiMat	blood
31	chr5:59991400-59993000	Weak transcription	Placenta	Placenta
32	chr5:59991400-59993200	Weak transcription	Dnd41	blood
33	chr5:59991400-59993200	Weak transcription	K562	blood
34	chr5:59991400-59993400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:59991400-59993400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:59991400-59993400	Weak transcription	A549	lung
37	chr5:59991400-59994000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr5:59991400-59994000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:59991400-59994200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:59991400-59994200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr5:59991400-59994800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:59991400-59994800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:59991400-59995000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:59991400-59995000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr5:59991400-59995200	Weak transcription	Pancreas	Pancrea
46	chr5:59991600-59993000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr5:59991600-59994000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:59991600-59994200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:59991600-59994400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr5:59991600-59994600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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