Variant report

Variant	rs536311607
Chromosome Location	chr1:45190699-45190700
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:45188846-45190776	NB4	blood:	n/a	n/a
2	POLR2A	chr1:45188746-45191415	HL-60	blood:	n/a	n/a
3	POLR2A	chr1:45188772-45191165	HL-60	blood:	n/a	n/a
4	MYC	chr1:45188879-45190790	NB4	blood:	n/a	n/a
5	POLR2A	chr1:45188941-45190728	NB4	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45190324..45200952-chr1:45272085..45288310,59	MCF-7	breast:
2	chr1:45179633..45191596-chr1:45283435..45288613,20	MCF-7	breast:
3	chr1:45086647..45106769-chr1:45179099..45192041,56	K562	blood:
4	chr1:45178001..45208867-chr1:45262751..45305400,520	K562	blood:
5	chr1:45178748..45209946-chr1:45262890..45299284,515	K562	blood:

No data

Variant related genes	Relation type
RNU5F-1	TF binding region
ENSG00000117425	Chromatin interaction
ENSG00000187147	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000173846	Chromatin interaction
ENSG00000188396	Chromatin interaction
ENSG00000222009	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
5	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
6	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
7	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
8	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
9	esv3375806	chr1:45189190-45191738	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr1:45181200-45194800	Weak transcription	Brain Anterior Caudate	brain
2	chr1:45184000-45191000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:45185200-45192400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:45185600-45192200	Weak transcription	NHDF-Ad	bronchial
5	chr1:45185600-45194800	Weak transcription	Dnd41	blood
6	chr1:45186200-45192400	Weak transcription	HSMM	muscle
7	chr1:45187800-45196200	Weak transcription	Right Atrium	heart
8	chr1:45188000-45190800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:45188000-45191000	Weak transcription	HepG2	liver
10	chr1:45188000-45192400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:45188000-45192400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:45188000-45192400	Weak transcription	A549	lung
13	chr1:45188000-45192400	Weak transcription	Osteobl	bone
14	chr1:45188000-45195800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:45188200-45190800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:45188600-45190800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:45188600-45190800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr1:45188800-45190800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr1:45188800-45190800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr1:45188800-45190800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:45189000-45191200	Enhancers	Spleen	Spleen
22	chr1:45189400-45190800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:45189400-45192000	Weak transcription	K562	blood
24	chr1:45189400-45196200	Weak transcription	Brain Germinal Matrix	brain
25	chr1:45189400-45196200	Weak transcription	Colonic Mucosa	Colon
26	chr1:45189600-45191200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:45189600-45192400	Weak transcription	Placenta	Placenta
28	chr1:45189600-45195000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:45189800-45190800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:45189800-45191000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:45189800-45191400	Enhancers	Primary hematopoietic stem cells	blood
32	chr1:45189800-45194800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr1:45189800-45195000	Weak transcription	Liver	Liver
34	chr1:45189800-45205000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:45190000-45190800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:45190000-45191000	Enhancers	Primary T cells from cord blood	blood
37	chr1:45190000-45191200	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr1:45190000-45191200	Enhancers	Fetal Thymus	thymus
39	chr1:45190000-45191400	Enhancers	Primary T cells fromperipheralblood	blood
40	chr1:45190000-45191600	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr1:45190000-45192800	Enhancers	GM12878-XiMat	blood
42	chr1:45190000-45193600	Weak transcription	Primary B cells from peripheral blood	blood
43	chr1:45190000-45194800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr1:45190200-45190800	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr1:45190200-45191000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr1:45190200-45191400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr1:45190200-45196000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr1:45190400-45190800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:45190400-45193400	Weak transcription	Primary B cells from cord blood	blood
50	chr1:45190600-45191200	Genic enhancers	Thymus	Thymus

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