Variant report

Variant	rs552688452
Chromosome Location	chr2:234262514-234262515
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	MXI1	chr2:234262258-234262630	Hela-S3	cervix:	n/a	chr2:234262351-234262360
2	MYC	chr2:234262289-234262662	K562	blood:	n/a	n/a
3	HDAC2	chr2:234262200-234262638	K562	blood:	n/a	chr2:234262454-234262463
4	MBD4	chr2:234262127-234263030	HepG2	liver:	n/a	n/a
5	TCF7L2	chr2:234261810-234262830	Hela-S3	cervix:	n/a	chr2:234262366-234262375
6	TCF7L2	chr2:234262171-234262842	PANC-1	pancreas:	n/a	chr2:234262366-234262375
7	REST	chr2:234262300-234262574	K562	blood:	n/a	n/a
8	ELF1	chr2:234262223-234262605	K562	blood:	n/a	n/a
9	MYC	chr2:234262259-234262669	HepG2	liver:	n/a	n/a
10	POLR2A	chr2:234262265-234262523	K562	blood:	n/a	n/a
11	CTCF	chr2:234262480-234262630	NHLF	lung:	n/a	n/a
12	TAL1	chr2:234262196-234262603	K562	blood:	n/a	chr2:234262455-234262473
13	POLR2A	chr2:234262432-234262851	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr2:234261828-234263785	GM15510	blood:	n/a	n/a
15	TFAP2A	chr2:234261687-234262905	Hela-S3	cervix:	n/a	chr2:234262489-234262504 chr2:234261870-234261884
16	MTA3	chr2:234261824-234263079	GM12878	blood:	n/a	n/a
17	RUNX3	chr2:234262468-234263076	GM12878	blood:	n/a	n/a
18	REST	chr2:234262362-234262568	K562	blood:	n/a	n/a
19	BCLAF1	chr2:234262238-234262967	GM12878	blood:	n/a	n/a
20	POLR2A	chr2:234262251-234263463	Hela-S3	cervix:	n/a	n/a
21	MAX	chr2:234262155-234262838	MCF-7	breast:	n/a	n/a
22	HDAC2	chr2:234262166-234262676	HepG2	liver:	n/a	chr2:234262454-234262463
23	MAZ	chr2:234262464-234264013	IMR90	lung:	n/a	chr2:234263057-234263067 chr2:234262959-234262969 chr2:234263026-234263035
24	NR2F2	chr2:234262148-234262803	K562	blood:	n/a	n/a
25	BHLHE40	chr2:234262241-234262644	K562	blood:	n/a	n/a
26	MYC	chr2:234262385-234262546	K562	blood:	n/a	n/a
27	MAX	chr2:234262239-234262620	K562	blood:	n/a	n/a
28	POLR2A	chr2:234262394-234262640	Hela-S3	cervix:	n/a	n/a
29	REST	chr2:234262356-234263590	H1-neurons	neurons:	n/a	chr2:234263151-234263164 chr2:234263047-234263060
30	MXI1	chr2:234262437-234263323	GM12878	blood:	n/a	n/a
31	POLR2A	chr2:234262212-234262561	HCT-116	colon:	n/a	n/a
32	MAZ	chr2:234262337-234263350	Hela-S3	cervix:	n/a	chr2:234263057-234263067 chr2:234262959-234262969 chr2:234263026-234263035
33	GATA2	chr2:234262097-234262609	K562	blood:	n/a	chr2:234262453-234262465 chr2:234262455-234262464 chr2:234262455-234262462 chr2:234262451-234262467 chr2:234262456-234262473
34	ELF1	chr2:234261904-234262571	GM12878	blood:	n/a	n/a
35	POLR2A	chr2:234261698-234263437	GM18505	blood:	n/a	n/a
36	SRF	chr2:234262285-234262578	GM12878	blood:	n/a	chr2:234262450-234262468 chr2:234262450-234262464
37	E2F6	chr2:234262243-234263063	A549	lung:	n/a	chr2:234263041-234263050
38	HDAC2	chr2:234262142-234262685	HepG2	liver:	n/a	chr2:234262454-234262463
39	NFIC	chr2:234262501-234263008	GM12878	blood:	n/a	n/a
40	HMGN3	chr2:234262262-234263393	K562	blood:	n/a	chr2:234262456-234262463
41	TBL1XR1	chr2:234262314-234262625	K562	blood:	n/a	n/a
42	TCF7L2	chr2:234262238-234262861	HEK293	kidney:	n/a	chr2:234262366-234262375
43	POLR2A	chr2:234262174-234262597	K562	blood:	n/a	n/a
44	TEAD4	chr2:234262161-234262657	K562	blood:	n/a	n/a
45	TBL1XR1	chr2:234262281-234263060	GM12878	blood:	n/a	n/a
46	MXI1	chr2:234262369-234263383	HepG2	liver:	n/a	n/a
47	POLR2A	chr2:234262364-234262951	SK-N-MC	brain:	n/a	n/a
48	TEAD4	chr2:234262153-234262588	K562	blood:	n/a	n/a
49	UBTF	chr2:234262288-234262835	K562	blood:	n/a	n/a
50	MEF2A	chr2:234262492-234263118	GM12878	blood:	n/a	chr2:234262922-234262936

No.	Distal block	Cell Line	Cell type
1	chr2:234260930..234263276-chr20:55839671..55841991,2	MCF-7	breast:
2	chr2:234245499..234247293-chr2:234261946..234264130,2	K562	blood:
3	chr2:233749631..233751772-chr2:234261254..234263295,2	MCF-7	breast:
4	chr2:234259434..234265610-chr2:234290886..234296562,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243637	TF binding region
ENSG00000259793	TF binding region
DGKD	TF binding region
ENSG00000101144	Chromatin interaction
ENSG00000066248	Chromatin interaction
ENSG00000077044	Chromatin interaction
ENSG00000130561	Chromatin interaction
ENSG00000226308	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	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1002075	chr2:234225979-234277508	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv460135	chr2:234242347-234288048	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv584701	chr2:234242347-234288048	ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv460136	chr2:234244395-234288048	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv584702	chr2:234244395-234288048	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv3421822	chr2:234262038-234264786	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	esv3363039	chr2:234262388-234264686	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234257800-234263000	Enhancers	Placenta Amnion	Placenta Amnion
2	chr2:234258200-234262600	Weak transcription	Psoas Muscle	Psoas
3	chr2:234258800-234262600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:234259400-234263200	Weak transcription	Small Intestine	intestine
5	chr2:234260400-234262600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:234261400-234262800	Flanking Active TSS	GM12878-XiMat	blood
7	chr2:234261400-234263000	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr2:234261600-234262800	Enhancers	Stomach Mucosa	stomach
9	chr2:234261600-234262800	Flanking Active TSS	Hela-S3	cervix
10	chr2:234261800-234262600	Enhancers	Lung	lung
11	chr2:234261800-234262600	Enhancers	Spleen	Spleen
12	chr2:234261800-234262800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr2:234261800-234262800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr2:234261800-234263000	Flanking Active TSS	Colonic Mucosa	Colon
15	chr2:234261800-234263000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr2:234262000-234262600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr2:234262000-234262800	Flanking Active TSS	Primary B cells from peripheral blood	blood
18	chr2:234262000-234262800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:234262000-234262800	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr2:234262000-234262800	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr2:234262000-234262800	Flanking Active TSS	Fetal Brain Female	brain
22	chr2:234262000-234262800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr2:234262000-234263000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr2:234262000-234263000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:234262000-234263000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:234262000-234263800	Active TSS	H9 Cell Line	embryonic stem cell
27	chr2:234262200-234262600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:234262200-234262600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
29	chr2:234262200-234262600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:234262200-234262600	Flanking Active TSS	Colon Smooth Muscle	Colon
31	chr2:234262200-234262600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr2:234262200-234262800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:234262200-234262800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr2:234262200-234262800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:234262200-234262800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr2:234262200-234262800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr2:234262200-234262800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr2:234262200-234262800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr2:234262200-234262800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr2:234262200-234262800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:234262200-234262800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:234262200-234262800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:234262200-234262800	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr2:234262200-234262800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr2:234262200-234262800	Flanking Active TSS	Fetal Stomach	stomach
46	chr2:234262200-234262800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr2:234262200-234262800	Flanking Active TSS	Thymus	Thymus
48	chr2:234262200-234262800	Flanking Active TSS	A549	lung
49	chr2:234262200-234263000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr2:234262200-234263000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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