Variant report

Variant	rs536056274
Chromosome Location	chr3:150479716-150479717
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:174)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:174 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:150476883-150483109	HepG2	liver:	n/a	n/a
2	TAF1	chr3:150479670-150479960	Hela-S3	cervix:	n/a	n/a
3	TAF1	chr3:150479535-150479915	Hela-S3	cervix:	n/a	n/a
4	MXI1	chr3:150479220-150482056	GM12878	blood:	n/a	n/a
5	MAX	chr3:150479572-150479926	K562	blood:	n/a	n/a
6	POLR2A	chr3:150479547-150480295	K562	blood:	n/a	n/a
7	CTBP2	chr3:150479678-150481976	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr3:150479212-150482050	MCF-7	breast:	n/a	n/a
9	POLR2A	chr3:150479559-150482054	HepG2	liver:	n/a	n/a
10	POLR2A	chr3:150479714-150483006	GM18505	blood:	n/a	n/a
11	POLR2A	chr3:150479549-150480381	K562	blood:	n/a	n/a
12	POLR2A	chr3:150479676-150482089	GM19099	blood:	n/a	n/a
13	POLR2A	chr3:150479339-150482294	Hela-S3	cervix:	n/a	n/a
14	MYC	chr3:150479370-150479930	K562	blood:	n/a	n/a
15	BHLHE40	chr3:150479641-150479998	K562	blood:	n/a	n/a
16	STAT3	chr3:150479548-150479728	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr3:150479623-150483088	GM19193	blood:	n/a	n/a
18	POLR2A	chr3:150479540-150479996	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr3:150479483-150480497	Hela-S3	cervix:	n/a	n/a
20	MAX	chr3:150479554-150482049	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr3:150479548-150480003	ECC-1	luminal epithelium:	n/a	n/a
22	MAX	chr3:150479580-150479998	H1-hESC	embryonic stem cell:	n/a	n/a
23	TCF12	chr3:150479285-150480348	A549	lung:	n/a	n/a
24	RCOR1	chr3:150479577-150479940	K562	blood:	n/a	n/a
25	SIN3A	chr3:150479704-150480324	GM12878	blood:	n/a	n/a
26	SIN3AK20	chr3:150479517-150480072	SK-N-SH	brain:	n/a	n/a
27	CTCF	chr3:150479370-150482380	A549	lung:	n/a	chr3:150480869-150480882
28	POLR2A	chr3:150478964-150483373	HepG2	liver:	n/a	n/a
29	STAT3	chr3:150479598-150479798	MCF10A-Er-Src	breast:	n/a	n/a
30	ZNF143	chr3:150479661-150479939	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr3:150479014-150480086	HepG2	liver:	n/a	n/a
32	SIN3AK20	chr3:150479560-150479988	K562	blood:	n/a	n/a
33	MAX	chr3:150479589-150479951	GM12878	blood:	n/a	n/a
34	POLR2A	chr3:150479598-150480020	H1-neurons	neurons:	n/a	n/a
35	TAF1	chr3:150479578-150479964	H1-hESC	embryonic stem cell:	n/a	n/a
36	JUND	chr3:150479511-150479887	A549	lung:	n/a	n/a
37	SIN3AK20	chr3:150479700-150481919	PANC-1	pancreas:	n/a	n/a
38	POLR2A	chr3:150479604-150479946	A549	lung:	n/a	n/a
39	ELK1	chr3:150479672-150479812	GM12878	blood:	n/a	n/a
40	POLR2A	chr3:150479474-150481991	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr3:150479624-150479950	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr3:150479511-150479915	K562	blood:	n/a	n/a
43	POLR2A	chr3:150479265-150481757	SK-N-MC	brain:	n/a	n/a
44	MTA3	chr3:150479659-150480398	GM12878	blood:	n/a	n/a
45	ELF1	chr3:150479649-150479985	GM12878	blood:	n/a	n/a
46	USF1	chr3:150479604-150479921	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr3:150479572-150480057	GM12878	blood:	n/a	n/a
48	POLR2A	chr3:150479553-150481976	K562	blood:	n/a	n/a
49	SMARCB1	chr3:150479590-150482017	Hela-S3	cervix:	n/a	chr3:150481395-150481404
50	POLR2A	chr3:150479333-150482028	HUVEC	blood vessel:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150318777..150323048-chr3:150479715..150482584,4	K562	blood:
2	chr3:150328265..150331845-chr3:150479203..150481571,3	K562	blood:
3	chr3:150319550..150322084-chr3:150479715..150481431,2	K562	blood:
4	chr3:150263797..150265530-chr3:150478854..150481327,3	MCF-7	breast:
5	chr3:150319354..150323687-chr3:150477863..150484487,11	MCF-7	breast:
6	chr3:150479690..150481282-chr6:76352345..76354574,2	MCF-7	breast:
7	chr3:150261800..150265866-chr3:150477764..150484308,7	MCF-7	breast:
8	chr1:179851119..179851848-chr3:150479575..150480206,2	Hela-S3	cervix:
9	chr3:150125257..150128558-chr3:150478258..150482422,4	K562	blood:
10	chr3:150318641..150323079-chr3:150479217..150482794,6	MCF-7	breast:
11	chr3:150433681..150449199-chr3:150473254..150487048,35	MCF-7	breast:
12	chr3:150419019..150423394-chr3:150479448..150481415,4	MCF-7	breast:

No data

Variant related genes	Relation type
SIAH2-AS1	TF binding region
ENSG00000144895	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000163645	Chromatin interaction
ENSG00000240137	Chromatin interaction
ENSG00000196428	Chromatin interaction
ENSG00000244668	Chromatin interaction
ENSG00000272906	Chromatin interaction
ENSG00000271711	Chromatin interaction
ENSG00000143337	Chromatin interaction
ENSG00000198843	Chromatin interaction
ENSG00000252498	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	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv592035	chr3:150478018-150481021	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
3	nsv592036	chr3:150478018-150481236	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	n/a
4	esv1820145	chr3:150478018-150487945	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	esv3420624	chr3:150478562-150482960	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	esv3375203	chr3:150479287-150481835	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150475000-150479800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
2	chr3:150475400-150480400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr3:150477200-150479800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr3:150477200-150480400	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr3:150477400-150480000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:150477600-150479800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr3:150477600-150480200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:150477600-150480400	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr3:150477800-150479800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
10	chr3:150477800-150479800	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr3:150477800-150480000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr3:150478000-150479800	Flanking Active TSS	Primary B cells from peripheral blood	blood
13	chr3:150478000-150479800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr3:150478000-150480000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr3:150478000-150482000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr3:150478000-150482200	Active TSS	Thymus	Thymus
17	chr3:150478200-150479800	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr3:150478200-150480400	Bivalent/Poised TSS	HepG2	liver
19	chr3:150478200-150480800	Active TSS	Right Atrium	heart
20	chr3:150478200-150481400	Active TSS	Primary T cells fromperipheralblood	blood
21	chr3:150478200-150481600	Active TSS	Colonic Mucosa	Colon
22	chr3:150478200-150482000	Active TSS	Ovary	ovary
23	chr3:150478200-150482200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:150478200-150482200	Active TSS	Right Ventricle	heart
25	chr3:150478200-150482200	Active TSS	NHDF-Ad	bronchial
26	chr3:150478200-150482400	Active TSS	Placenta	Placenta
27	chr3:150478200-150482400	Active TSS	GM12878-XiMat	blood
28	chr3:150478400-150479800	Flanking Active TSS	Dnd41	blood
29	chr3:150478400-150482000	Active TSS	HSMM	muscle
30	chr3:150478400-150482200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:150478400-150482200	Active TSS	HSMMtube	muscle
32	chr3:150478400-150482600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr3:150478600-150480000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr3:150478600-150480400	Active TSS	Stomach Mucosa	stomach
35	chr3:150478600-150481800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:150478600-150482000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:150478600-150482000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr3:150478600-150482200	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr3:150478600-150482200	Active TSS	Aorta	Aorta
40	chr3:150478600-150482400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:150478600-150482600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr3:150478800-150481600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:150478800-150481600	Active TSS	HMEC	breast
44	chr3:150478800-150481800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:150478800-150481800	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr3:150478800-150482000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr3:150478800-150482000	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr3:150478800-150482000	Active TSS	K562	blood
49	chr3:150478800-150482200	Active TSS	Psoas Muscle	Psoas
50	chr3:150478800-150482200	Active TSS	NHLF	lung

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