Variant report

Variant	rs572746387
Chromosome Location	chr3:142837654-142837655
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:61 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	UBTF	chr3:142837331-142839986	K562	blood:	n/a	n/a
2	MXI1	chr3:142837650-142838810	GM12878	blood:	n/a	n/a
3	POLR2A	chr3:142837413-142839052	K562	blood:	n/a	n/a
4	POLR2A	chr3:142837303-142839328	K562	blood:	n/a	n/a
5	POLR2A	chr3:142837235-142842973	GM12878	blood:	n/a	n/a
6	POLR2A	chr3:142837418-142838863	Raji	blood:	n/a	n/a
7	POLR2A	chr3:142837371-142841744	GM12892	blood:	n/a	n/a
8	POLR2A	chr3:142837327-142842927	GM12891	blood:	n/a	n/a
9	POLR2A	chr3:142837450-142838856	K562	blood:	n/a	n/a
10	POLR2A	chr3:142836914-142843085	GM12891	blood:	n/a	n/a
11	POLR2A	chr3:142837397-142840013	GM12892	blood:	n/a	n/a
12	POLR2A	chr3:142837372-142842950	GM12891	blood:	n/a	n/a
13	TBP	chr3:142837414-142838827	K562	blood:	n/a	n/a
14	CHD2	chr3:142837571-142838746	H1-hESC	embryonic stem cell:	n/a	n/a
15	BHLHE40	chr3:142837636-142838338	K562	blood:	n/a	n/a
16	SIN3A	chr3:142837580-142840494	H1-hESC	embryonic stem cell:	n/a	chr3:142839059-142839070 chr3:142839574-142839587 chr3:142839203-142839214 chr3:142838852-142838863 chr3:142839021-142839030
17	POLR2A	chr3:142837371-142840452	GM12892	blood:	n/a	n/a
18	POLR2A	chr3:142837405-142838836	K562	blood:	n/a	n/a
19	CUX1	chr3:142837407-142837933	K562	blood:	n/a	n/a
20	PML	chr3:142837630-142838468	K562	blood:	n/a	n/a
21	ATF2	chr3:142837530-142838477	GM12878	blood:	n/a	n/a
22	FOXM1	chr3:142837653-142838579	GM12878	blood:	n/a	n/a
23	TRIM28	chr3:142837282-142838506	K562	blood:	n/a	n/a
24	MYC	chr3:142837652-142838718	K562	blood:	n/a	n/a
25	MYC	chr3:142837380-142838738	K562	blood:	n/a	n/a
26	EP300	chr3:142837413-142838443	K562	blood:	n/a	n/a
27	MTA3	chr3:142837353-142839597	GM12878	blood:	n/a	n/a
28	UBTF	chr3:142837118-142840212	K562	blood:	n/a	n/a
29	ZNF143	chr3:142837481-142838677	K562	blood:	n/a	chr3:142838425-142838435 chr3:142837666-142837684 chr3:142838588-142838598
30	POLR2A	chr3:142837654-142842994	GM12892	blood:	n/a	n/a
31	POLR2A	chr3:142837346-142838912	K562	blood:	n/a	n/a
32	POLR2A	chr3:142837616-142840005	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr3:142837455-142842924	GM18505	blood:	n/a	n/a
34	POLR2A	chr3:142837587-142838798	K562	blood:	n/a	n/a
35	MAX	chr3:142837367-142838863	K562	blood:	n/a	n/a
36	JUND	chr3:142837543-142838233	K562	blood:	n/a	n/a
37	RUNX3	chr3:142837615-142838433	GM12878	blood:	n/a	n/a
38	RCOR1	chr3:142837456-142838284	K562	blood:	n/a	n/a
39	POLR2A	chr3:142836989-142838822	K562	blood:	n/a	n/a
40	NR2F2	chr3:142837420-142838524	K562	blood:	n/a	n/a
41	MAZ	chr3:142837494-142840228	K562	blood:	n/a	n/a
42	TEAD4	chr3:142837418-142838503	K562	blood:	n/a	n/a
43	MYC	chr3:142837475-142838819	K562	blood:	n/a	n/a
44	PBX3	chr3:142837629-142838904	SK-N-SH	brain:	n/a	n/a
45	TBL1XR1	chr3:142837378-142838181	K562	blood:	n/a	n/a
46	TBL1XR1	chr3:142837622-142838406	K562	blood:	n/a	n/a
47	YY1	chr3:142837444-142837703	K562	blood:	n/a	n/a
48	CTBP2	chr3:142837471-142838432	H1-hESC	embryonic stem cell:	n/a	n/a
49	RCOR1	chr3:142837385-142840409	K562	blood:	n/a	n/a
50	CBX3	chr3:142837365-142838486	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142295506..142297981-chr3:142837321..142839389,2	K562	blood:
2	chr3:142755305..142760138-chr3:142835756..142840820,6	K562	blood:

No data

Variant related genes	Relation type
CHST2	TF binding region
ENSG00000241679	TF binding region
ENSG00000175054	Chromatin interaction
ENSG00000163714	Chromatin interaction

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	nsv877562	chr3:142573789-142846370	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv591921	chr3:142762487-142841740	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1007164	chr3:142837004-142891719	Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142836600-142839200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr3:142837000-142837800	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr3:142837000-142838000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr3:142837000-142838200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr3:142837000-142840400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr3:142837200-142837800	Flanking Bivalent TSS/Enh	Fetal Lung	lung
7	chr3:142837200-142838000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr3:142837200-142838400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr3:142837200-142840600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr3:142837400-142837800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:142837400-142837800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:142837400-142837800	Enhancers	Primary B cells from peripheral blood	blood
13	chr3:142837400-142837800	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr3:142837400-142837800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:142837400-142837800	Bivalent Enhancer	Fetal Heart	heart
16	chr3:142837400-142837800	Bivalent Enhancer	Fetal Intestine Small	intestine
17	chr3:142837400-142837800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr3:142837400-142837800	Enhancers	Lung	lung
19	chr3:142837400-142837800	Bivalent Enhancer	NHEK	skin
20	chr3:142837400-142838000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
21	chr3:142837400-142838000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr3:142837400-142838000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:142837400-142838000	Bivalent Enhancer	Fetal Brain Male	brain
24	chr3:142837400-142838000	Flanking Active TSS	GM12878-XiMat	blood
25	chr3:142837400-142838000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
26	chr3:142837400-142838200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr3:142837400-142838200	Flanking Active TSS	Dnd41	blood
28	chr3:142837400-142838800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr3:142837400-142839000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:142837400-142839400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:142837400-142839800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr3:142837400-142840200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:142837400-142840400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr3:142837400-142840400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr3:142837400-142840600	Active TSS	H9 Cell Line	embryonic stem cell
36	chr3:142837600-142837800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
37	chr3:142837600-142837800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:142837600-142837800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:142837600-142837800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
40	chr3:142837600-142837800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:142837600-142837800	Enhancers	Primary hematopoietic stem cells	blood
42	chr3:142837600-142837800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr3:142837600-142837800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr3:142837600-142837800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr3:142837600-142837800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr3:142837600-142837800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr3:142837600-142837800	Active TSS	Liver	Liver
48	chr3:142837600-142837800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr3:142837600-142837800	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
50	chr3:142837600-142837800	Active TSS	Psoas Muscle	Psoas

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