Variant report

Variant	rs571388596
Chromosome Location	chr2:181988660-181988661
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	SPI1	chr2:181988315-181988941	HL-60	blood:	n/a	n/a
2	BATF	chr2:181988440-181988955	GM12878	blood:	n/a	chr2:181988871-181988881 chr2:181988867-181988877
3	CHD2	chr2:181988491-181988834	GM12878	blood:	n/a	n/a
4	ATF2	chr2:181988331-181989010	GM12878	blood:	n/a	n/a
5	EBF1	chr2:181988434-181989055	GM12878	blood:	n/a	n/a
6	PAX5	chr2:181988378-181988894	GM12878	blood:	n/a	n/a
7	SMC3	chr2:181988375-181988887	GM12878	blood:	n/a	n/a
8	NFATC1	chr2:181988400-181989063	GM12878	blood:	n/a	n/a
9	FOXM1	chr2:181988343-181988989	GM12878	blood:	n/a	n/a
10	MAZ	chr2:181988473-181988864	GM12878	blood:	n/a	n/a
11	POLR2A	chr2:181988510-181988818	GM12891	blood:	n/a	n/a
12	TBL1XR1	chr2:181988395-181988851	GM12878	blood:	n/a	n/a
13	MTA3	chr2:181988330-181988983	GM12878	blood:	n/a	n/a
14	BHLHE40	chr2:181988446-181988761	GM12878	blood:	n/a	n/a
15	RUNX3	chr2:181988321-181988978	GM12878	blood:	n/a	n/a
16	PML	chr2:181988486-181988840	GM12878	blood:	n/a	n/a
17	STAT3	chr2:181988371-181988904	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr2:181988430-181988848	GM12891	blood:	n/a	n/a
19	IKZF1	chr2:181988448-181989050	GM12878	blood:	n/a	n/a
20	EP300	chr2:181988428-181988875	GM12878	blood:	n/a	chr2:181988715-181988725 chr2:181988721-181988735
21	MXI1	chr2:181988414-181988812	GM12878	blood:	n/a	n/a
22	IRF4	chr2:181988395-181988861	GM12878	blood:	n/a	n/a
23	BCL11A	chr2:181988467-181988832	GM12878	blood:	n/a	n/a
24	CUX1	chr2:181988354-181988790	GM12878	blood:	n/a	n/a
25	POLR2A	chr2:181988507-181988809	GM12891	blood:	n/a	n/a
26	WRNIP1	chr2:181988523-181988946	GM12878	blood:	n/a	n/a
27	GATA2	chr2:181988406-181989508	HUVEC	blood vessel:	n/a	chr2:181988531-181988538 chr2:181988718-181988729 chr2:181988958-181988972
28	MEF2A	chr2:181988341-181988802	GM12878	blood:	n/a	n/a
29	EP300	chr2:181988417-181988859	GM12878	blood:	n/a	chr2:181988715-181988725 chr2:181988721-181988735
30	NFIC	chr2:181988293-181989052	GM12878	blood:	n/a	n/a
31	STAT5A	chr2:181988387-181988845	GM12878	blood:	n/a	n/a
32	NFATC1	chr2:181988389-181988885	GM12878	blood:	n/a	n/a
33	MTA3	chr2:181988398-181988919	GM12878	blood:	n/a	n/a
34	FOXM1	chr2:181988325-181988980	GM12878	blood:	n/a	n/a
35	SP1	chr2:181988420-181988846	GM12878	blood:	n/a	n/a
36	PAX5	chr2:181988465-181988722	GM12878	blood:	n/a	n/a
37	STAT5A	chr2:181988437-181988854	GM12878	blood:	n/a	n/a
38	BATF	chr2:181988398-181988791	GM12878	blood:	n/a	n/a
39	NFIC	chr2:181988240-181989826	GM12878	blood:	n/a	n/a
40	CEBPB	chr2:181988319-181989251	GM12878	blood:	n/a	n/a
41	EP300	chr2:181988452-181988805	GM12878	blood:	n/a	chr2:181988715-181988725 chr2:181988721-181988735
42	TAF1	chr2:181988482-181988903	GM12878	blood:	n/a	n/a
43	POLR2A	chr2:181988530-181989063	HUVEC	blood vessel:	n/a	n/a
44	RUNX3	chr2:181988378-181988952	GM12878	blood:	n/a	n/a
45	POLR2A	chr2:181988419-181988932	GM12892	blood:	n/a	n/a
46	RELA	chr2:181988449-181988913	GM12891	blood:	n/a	n/a
47	ATF2	chr2:181988390-181988888	GM12878	blood:	n/a	n/a
48	POLR2A	chr2:181988522-181988747	GM12878	blood:	n/a	n/a
49	BCLAF1	chr2:181988271-181988945	GM12878	blood:	n/a	chr2:181988869-181988878
50	PML	chr2:181988276-181989022	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UBE2E3-1	chr2:181988659-181988707	XLOC_001776
2	lnc-UBE2E3-1	chr2:181988623-181988707	XLOC_001776
3	lnc-UBE2E3-1	chr2:181988564-181988707	XLOC_001776
4	lnc-UBE2E3-1	chr2:181988562-181988707	XLOC_001776
5	lnc-UBE2E3-1	chr2:181988564-181988707	ENSG00000234663
6	lnc-CERKL-2	chr2:181988623-181988706	NONHSAT075862

Variant related genes	Relation type
ENSG00000234663	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431824	chr2:181946115-182118559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv459954	chr2:181975252-182040293	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv583910	chr2:181975252-182040293	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3431632	chr2:181987257-181989255	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:181985000-181988800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:181985000-181990200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:181986600-181989000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:181987000-181988800	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr2:181987400-181989000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr2:181988400-181988800	Active TSS	Primary T cells from cord blood	blood
7	chr2:181988400-181988800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
8	chr2:181988400-181988800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:181988400-181989000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:181988400-181989000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:181988400-181989000	Enhancers	Primary B cells from peripheral blood	blood
12	chr2:181988400-181989000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:181988400-181989000	Enhancers	HMEC	breast
14	chr2:181988400-181989200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:181988400-181989200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:181988400-181989400	Active TSS	Primary T cells fromperipheralblood	blood
17	chr2:181988400-181989400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:181988400-181989400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:181988400-181989600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:181988400-181989600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:181988400-181989600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr2:181988400-181989600	Flanking Active TSS	GM12878-XiMat	blood
23	chr2:181988400-181989600	Enhancers	HUVEC	blood vessel
24	chr2:181988400-181989600	Enhancers	NH-A	brain
25	chr2:181988400-181989800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:181988400-181990200	Active TSS	Fetal Thymus	thymus
27	chr2:181988400-181991400	Flanking Active TSS	Dnd41	blood
28	chr2:181988400-181991600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr2:181988600-181988800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:181988600-181988800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:181988600-181988800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:181988600-181989000	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr2:181988600-181989000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:181988600-181989000	Enhancers	NHEK	skin
35	chr2:181988600-181989000	Enhancers	NHLF	lung
36	chr2:181988600-181989200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr2:181988600-181989200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr2:181988600-181989400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr2:181988600-181989400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:181988600-181989400	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr2:181988600-181989600	Enhancers	HSMMtube	muscle
42	chr2:181988600-181989600	Enhancers	Osteobl	bone
43	chr2:181988600-181990200	Active TSS	Thymus	Thymus
44	chr2:181988600-181990400	Enhancers	HSMM	muscle
45	chr2:181988600-181990600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr2:181988600-181990800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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