Variant report

Variant	rs190381026
Chromosome Location	chr1:45190843-45190844
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:45188746-45191415	HL-60	blood:	n/a	n/a
2	POLR2A	chr1:45188772-45191165	HL-60	blood:	n/a	n/a

No data

(count:6 , 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:
6	chr1:45190717..45192920-chr1:45241630..45243711,3	MCF-7	breast:

No data

Variant related genes	Relation type
RNU5F-1	TF binding region
ENSG00000202031	Chromatin interaction
ENSG00000188396	Chromatin interaction
ENSG00000142937	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000117425	Chromatin interaction
ENSG00000187147	Chromatin interaction
ENSG00000173846	Chromatin interaction
ENSG00000222009	Chromatin interaction
ENSG00000200913	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:55 , 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	chr1:45188000-45191000	Weak transcription	HepG2	liver
9	chr1:45188000-45192400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:45188000-45192400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:45188000-45192400	Weak transcription	A549	lung
12	chr1:45188000-45192400	Weak transcription	Osteobl	bone
13	chr1:45188000-45195800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:45189000-45191200	Enhancers	Spleen	Spleen
15	chr1:45189400-45192000	Weak transcription	K562	blood
16	chr1:45189400-45196200	Weak transcription	Brain Germinal Matrix	brain
17	chr1:45189400-45196200	Weak transcription	Colonic Mucosa	Colon
18	chr1:45189600-45191200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:45189600-45192400	Weak transcription	Placenta	Placenta
20	chr1:45189600-45195000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:45189800-45191000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:45189800-45191400	Enhancers	Primary hematopoietic stem cells	blood
23	chr1:45189800-45194800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:45189800-45195000	Weak transcription	Liver	Liver
25	chr1:45189800-45205000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:45190000-45191000	Enhancers	Primary T cells from cord blood	blood
27	chr1:45190000-45191200	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr1:45190000-45191200	Enhancers	Fetal Thymus	thymus
29	chr1:45190000-45191400	Enhancers	Primary T cells fromperipheralblood	blood
30	chr1:45190000-45191600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr1:45190000-45192800	Enhancers	GM12878-XiMat	blood
32	chr1:45190000-45193600	Weak transcription	Primary B cells from peripheral blood	blood
33	chr1:45190000-45194800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:45190200-45191000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr1:45190200-45191400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr1:45190200-45196000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr1:45190400-45193400	Weak transcription	Primary B cells from cord blood	blood
38	chr1:45190600-45191200	Genic enhancers	Thymus	Thymus
39	chr1:45190600-45191400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:45190600-45191400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr1:45190600-45191400	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr1:45190600-45196200	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:45190800-45191000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:45190800-45191200	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr1:45190800-45191200	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr1:45190800-45191200	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr1:45190800-45191200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:45190800-45191400	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr1:45190800-45191400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:45190800-45191400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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