Variant report

Variant	rs569292093
Chromosome Location	chr3:53147783-53147784
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:53130798..53133008-chr3:53147283..53149455,2	K562	blood:
2	chr3:53147634..53148660-chr3:53229191..53230888,15	K562	blood:
3	chr3:53147481..53152677-chr3:53161701..53165714,6	MCF-7	breast:
4	chr3:53147149..53149237-chr3:53228020..53230160,2	K562	blood:
5	chr3:53147705..53149046-chr3:53229640..53231117,6	MCF-7	breast:
6	chr3:53147650..53148675-chr3:53229707..53230554,5	MCF-7	breast:
7	chr3:53147149..53149280-chr3:53227312..53230160,3	K562	blood:
8	chr3:53147624..53148587-chr3:53209928..53210687,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163933	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv590356	chr3:53134098-53170500	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
2	nsv822095	chr3:53147166-53147882	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv460553	chr3:53147576-53185061	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
4	nsv590357	chr3:53147576-53185061	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53107800-53151400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:53119000-53154200	Weak transcription	Stomach Mucosa	stomach
3	chr3:53122800-53152200	Weak transcription	Small Intestine	intestine
4	chr3:53123200-53148600	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr3:53124200-53151600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:53127000-53154200	Weak transcription	Right Atrium	heart
7	chr3:53132000-53148000	Strong transcription	Primary B cells from peripheral blood	blood
8	chr3:53133600-53152600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:53137400-53151400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:53137400-53161600	Strong transcription	Fetal Intestine Small	intestine
11	chr3:53137600-53147800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:53138000-53151000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr3:53138400-53151400	Weak transcription	Gastric	stomach
14	chr3:53139000-53148200	Weak transcription	HUVEC	blood vessel
15	chr3:53139000-53151200	Weak transcription	Colonic Mucosa	Colon
16	chr3:53139200-53151200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:53139200-53151400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr3:53139200-53157400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr3:53139400-53147800	Weak transcription	Ovary	ovary
20	chr3:53139400-53151200	Weak transcription	Esophagus	oesophagus
21	chr3:53139400-53151400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr3:53139600-53151400	Weak transcription	Aorta	Aorta
23	chr3:53140800-53149200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr3:53142800-53161000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:53143000-53149400	Strong transcription	GM12878-XiMat	blood
26	chr3:53143400-53147800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr3:53143600-53150800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:53143600-53151000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:53143600-53151400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr3:53143800-53147800	Strong transcription	Primary B cells from cord blood	blood
31	chr3:53143800-53148200	Weak transcription	HSMMtube	muscle
32	chr3:53144000-53151000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr3:53144200-53148400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr3:53144200-53148600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:53144200-53151000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr3:53144200-53151000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr3:53144200-53151000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr3:53144400-53147800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:53144400-53147800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr3:53144400-53149600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr3:53144400-53149600	Weak transcription	Fetal Kidney	kidney
42	chr3:53144600-53147800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr3:53144600-53147800	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr3:53144600-53147800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr3:53144600-53147800	Weak transcription	Brain Hippocampus Middle	brain
46	chr3:53144600-53147800	Weak transcription	Brain Substantia Nigra	brain
47	chr3:53144600-53147800	Strong transcription	Dnd41	blood
48	chr3:53144600-53147800	Weak transcription	K562	blood
49	chr3:53144600-53148000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr3:53144600-53148000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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