Variant report

Variant	rs570299748
Chromosome Location	chr1:247094484-247094485
allele	A/C
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:247092592..247095168-chr1:247240880..247243272,2	K562	blood:
2	chr1:247093657..247096650-chr1:247335096..247337981,2	K562	blood:
3	chr1:247046300..247048217-chr1:247091357..247094558,3	K562	blood:
4	chr1:247094403..247095339-chr8:134309571..134310460,2	Hela-S3	cervix:
5	chr1:247093791..247096097-chr1:247493835..247497465,5	K562	blood:
6	chr1:247056860..247058918-chr1:247092602..247094534,2	MCF-7	breast:
7	chr1:247093628..247096678-chr1:247168698..247172076,4	MCF-7	breast:
8	chr1:247092987..247095907-chr22:39713891..39716269,2	K562	blood:
9	chr1:247093046..247095250-chr1:247265472..247268873,4	MCF-7	breast:
10	chr1:247093731..247095297-chr1:247494500..247497465,3	K562	blood:
11	chr1:247092146..247096759-chr1:247274350..247278356,6	MCF-7	breast:
12	chr1:247093552..247097819-chr1:247240197..247243590,5	MCF-7	breast:
13	chr1:247092220..247095330-chr1:247240373..247243272,3	K562	blood:
14	chr1:247093881..247096879-chr1:247169993..247171703,3	K562	blood:
15	chr1:247092719..247096472-chr1:247266171..247268660,3	MCF-7	breast:
16	chr1:247094242..247096736-chr1:249153131..249154703,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162714	Chromatin interaction
ENSG00000263764	Chromatin interaction
ENSG00000196418	Chromatin interaction
ENSG00000135747	Chromatin interaction
ENSG00000100316	Chromatin interaction
ENSG00000188295	Chromatin interaction
ENSG00000221953	Chromatin interaction
ENSG00000197472	Chromatin interaction
ENSG00000227237	Chromatin interaction
ENSG00000171163	Chromatin interaction
ENSG00000104419	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv1011346	chr1:246868799-247133898	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv873424	chr1:246991094-247366380	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS 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 miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
7	nsv1000602	chr1:247044627-247226568	Enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv873425	chr1:247069514-247156066	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv873426	chr1:247069514-247162628	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	esv3438502	chr1:247093554-247096502	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
11	nsv535417	chr1:247094131-247409000	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
12	nsv1005639	chr1:247094161-247401380	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
13	nsv535418	chr1:247094161-247401380	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247092800-247095800	Active TSS	A549	lung
2	chr1:247093000-247095800	Active TSS	HSMM	muscle
3	chr1:247093000-247096200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:247093000-247096200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:247093000-247096200	Active TSS	GM12878-XiMat	blood
6	chr1:247093200-247095800	Active TSS	Ovary	ovary
7	chr1:247093400-247094600	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr1:247093400-247094600	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr1:247093400-247095800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:247093400-247095800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:247093400-247095800	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr1:247093400-247096000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:247093400-247096000	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr1:247093400-247096000	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr1:247093400-247096000	Active TSS	Muscle Satellite Cultured Cells	--
16	chr1:247093400-247096000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:247093400-247096000	Active TSS	Brain Germinal Matrix	brain
18	chr1:247093400-247096000	Active TSS	Right Ventricle	heart
19	chr1:247093400-247096000	Active TSS	HSMMtube	muscle
20	chr1:247093400-247096000	Active TSS	NHLF	lung
21	chr1:247093400-247096200	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr1:247093400-247096200	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr1:247093400-247096200	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr1:247093400-247096200	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr1:247093400-247096200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:247093400-247096400	Active TSS	H9 Cell Line	embryonic stem cell
27	chr1:247093600-247094600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:247093600-247095000	Active TSS	Right Atrium	heart
29	chr1:247093600-247095400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:247093600-247095600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:247093600-247095800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:247093600-247095800	Active TSS	Aorta	Aorta
33	chr1:247093600-247095800	Active TSS	HepG2	liver
34	chr1:247093600-247095800	Active TSS	HMEC	breast
35	chr1:247093600-247095800	Active TSS	NHEK	skin
36	chr1:247093600-247096000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr1:247093600-247096000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:247093600-247096000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:247093600-247096000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:247093600-247096000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:247093600-247096000	Active TSS	Colonic Mucosa	Colon
42	chr1:247093600-247096000	Active TSS	Esophagus	oesophagus
43	chr1:247093600-247096000	Active TSS	Psoas Muscle	Psoas
44	chr1:247093600-247096000	Active TSS	NHDF-Ad	bronchial
45	chr1:247093600-247096200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:247093800-247094600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:247093800-247095600	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr1:247093800-247095600	Active TSS	Lung	lung
49	chr1:247093800-247095800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:247093800-247095800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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