Variant report

Variant	rs543019912
Chromosome Location	chr1:155581288-155581289
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:155581153-155582022	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr1:155581206-155581752	GM12891	blood:	n/a	n/a
3	POLR2A	chr1:155579331-155583059	GM12892	blood:	n/a	n/a
4	POLR2A	chr1:155579402-155583617	GM12891	blood:	n/a	n/a
5	CTCF	chr1:155581225-155581292	GM10248	blood:	n/a	n/a
6	POLR2A	chr1:155581071-155582152	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr1:155581144-155582077	GM12891	blood:	n/a	n/a
8	POLR2A	chr1:155581227-155582495	HepG2	liver:	n/a	n/a
9	POLR2A	chr1:155579396-155583651	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:155581247-155581654	PANC-1	pancreas:	n/a	n/a
11	HEY1	chr1:155581072-155582097	K562	blood:	n/a	n/a
12	POLR2A	chr1:155579345-155584848	GM12892	blood:	n/a	n/a
13	POLR2A	chr1:155579379-155581296	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr1:155579347-155582010	GM12878	blood:	n/a	n/a
15	POLR2A	chr1:155579256-155583069	GM12892	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DAP3-2	chr1:155581007-155581394	NONHSAT006748

Variant related genes	Relation type
ENSG00000232519	TF binding region
MSTO1	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	esv3431739	chr1:155514331-155664183	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv3388968	chr1:155532335-155658278	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats 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	55 gene(s)	inside rSNPs	diseases
5	nsv1002390	chr1:155553423-155706930	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv436522	chr1:155559513-155674249	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv946419	chr1:155561148-155630744	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	esv3360339	chr1:155562157-155683127	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
10	nsv547965	chr1:155563152-155688600	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
11	nsv3043	chr1:155574054-155608574	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a
12	nsv482134	chr1:155580007-155584757	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155579200-155581400	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr1:155579200-155581400	Active TSS	GM12878-XiMat	blood
3	chr1:155579400-155581400	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr1:155579800-155582000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:155579800-155584400	Weak transcription	Aorta	Aorta
6	chr1:155579800-155585800	Weak transcription	Fetal Brain Male	brain
7	chr1:155579800-155586200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:155579800-155586600	Weak transcription	Fetal Heart	heart
9	chr1:155580000-155581800	Weak transcription	Spleen	Spleen
10	chr1:155580000-155582000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:155580000-155582000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:155580000-155582000	Weak transcription	Small Intestine	intestine
13	chr1:155580000-155582200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:155580000-155582200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr1:155580000-155582200	Weak transcription	Brain Substantia Nigra	brain
16	chr1:155580000-155584600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:155580000-155586600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:155580000-155593200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:155580200-155582200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr1:155580200-155586400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr1:155580400-155582000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:155580400-155582000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr1:155580400-155582000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:155580400-155582000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:155580400-155582000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:155580400-155582000	Weak transcription	Liver	Liver
27	chr1:155580400-155582000	Weak transcription	Gastric	stomach
28	chr1:155580400-155582000	Weak transcription	Lung	lung
29	chr1:155580400-155582000	Weak transcription	Ovary	ovary
30	chr1:155580400-155582000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:155580400-155582200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:155580400-155582200	Weak transcription	Colon Smooth Muscle	Colon
33	chr1:155580400-155582200	Weak transcription	Esophagus	oesophagus
34	chr1:155580400-155584600	Weak transcription	Right Atrium	heart
35	chr1:155580600-155581800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:155580600-155581800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:155580600-155581800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr1:155580600-155581800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:155580600-155581800	Weak transcription	Fetal Intestine Small	intestine
40	chr1:155580600-155582000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr1:155580600-155582000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:155580600-155582000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:155580600-155582000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:155580600-155582000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr1:155580600-155582000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:155580600-155582000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:155580600-155582000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:155580600-155582000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:155580600-155582000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:155580600-155582000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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