Variant report

Variant	rs397694080
Chromosome Location	chr5:126094301-126094302
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr5:126093794-126094950	NB4	blood:	n/a	n/a
2	CHD1	chr5:126094278-126094595	GM12878	blood:	n/a	n/a
3	MYC	chr5:126094109-126094400	K562	blood:	n/a	n/a
4	IKZF1	chr5:126093963-126094579	GM12878	blood:	n/a	n/a
5	BCL11A	chr5:126094168-126094522	GM12878	blood:	n/a	n/a
6	EP300	chr5:126094063-126094632	GM12878	blood:	n/a	n/a
7	ZNF384	chr5:126093426-126095124	GM12878	blood:	n/a	n/a
8	HMGN3	chr5:126094047-126094318	K562	blood:	n/a	n/a
9	BCL11A	chr5:126094226-126094556	GM12878	blood:	n/a	n/a
10	POLR2A	chr5:126094067-126094595	Raji	blood:	n/a	n/a
11	SPI1	chr5:126093831-126094622	HL-60	blood:	n/a	chr5:126094148-126094161 chr5:126094151-126094158
12	POLR2A	chr5:126093925-126094609	HL-60	blood:	n/a	n/a
13	TBL1XR1	chr5:126094094-126094336	K562	blood:	n/a	n/a
14	TBP	chr5:126093733-126094627	GM12878	blood:	n/a	n/a
15	BHLHE40	chr5:126093988-126094686	GM12878	blood:	n/a	n/a
16	EBF1	chr5:126093788-126094569	GM12878	blood:	n/a	n/a
17	RUNX3	chr5:126093660-126094684	GM12878	blood:	n/a	n/a
18	GATA2	chr5:126093991-126094314	K562	blood:	n/a	chr5:126094109-126094120 chr5:126094087-126094097
19	EBF1	chr5:126094117-126094551	GM12878	blood:	n/a	n/a
20	TEAD4	chr5:126093646-126094561	K562	blood:	n/a	n/a
21	NFIC	chr5:126094192-126094551	GM12878	blood:	n/a	n/a
22	RCOR1	chr5:126093978-126094524	K562	blood:	n/a	n/a
23	MXI1	chr5:126094190-126094617	GM12878	blood:	n/a	n/a
24	WRNIP1	chr5:126094265-126094451	GM12878	blood:	n/a	n/a
25	EBF1	chr5:126094100-126094510	GM12878	blood:	n/a	n/a
26	NFATC1	chr5:126093920-126094696	GM12878	blood:	n/a	n/a
27	RCOR1	chr5:126093959-126094403	K562	blood:	n/a	n/a
28	POU2F2	chr5:126094174-126094554	GM12878	blood:	n/a	chr5:126094528-126094550
29	MTA3	chr5:126094150-126094646	GM12878	blood:	n/a	n/a
30	POLR2A	chr5:126094068-126094615	HL-60	blood:	n/a	n/a
31	MAX	chr5:126094196-126094425	K562	blood:	n/a	n/a
32	BATF	chr5:126094262-126094510	GM12878	blood:	n/a	n/a
33	EP300	chr5:126093969-126094473	K562	blood:	n/a	n/a
34	TAF1	chr5:126094135-126094535	GM12878	blood:	n/a	n/a
35	MTA3	chr5:126094005-126094714	GM12878	blood:	n/a	n/a
36	EP300	chr5:126094104-126094601	GM12878	blood:	n/a	n/a
37	TCF12	chr5:126094163-126094540	GM12878	blood:	n/a	n/a
38	CEBPB	chr5:126093773-126094506	K562	blood:	n/a	n/a
39	ZNF384	chr5:126094069-126094774	K562	blood:	n/a	n/a
40	JUND	chr5:126094023-126094314	K562	blood:	n/a	chr5:126094195-126094206
41	CHD2	chr5:126093780-126094561	GM12878	blood:	n/a	n/a
42	SP1	chr5:126094212-126094589	GM12878	blood:	n/a	chr5:126094341-126094350 chr5:126094341-126094351
43	YY1	chr5:126094219-126094497	GM12892	blood:	n/a	n/a
44	PAX5	chr5:126094276-126094510	GM12878	blood:	n/a	n/a
45	CUX1	chr5:126093855-126094335	K562	blood:	n/a	chr5:126094019-126094035
46	YY1	chr5:126094178-126094514	GM12878	blood:	n/a	n/a
47	NFIC	chr5:126094206-126094719	GM12878	blood:	n/a	n/a
48	RUNX3	chr5:126094122-126094670	GM12878	blood:	n/a	n/a
49	MYC	chr5:126093802-126094642	NB4	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:126076590..126078230-chr5:126093014..126095500,2	K562	blood:
2	chr5:126088892..126090481-chr5:126094114..126095663,2	K562	blood:
3	chr5:126091168..126095262-chr5:126111673..126114591,6	K562	blood:
4	chr5:126089250..126100296-chr5:126109758..126119075,20	K562	blood:
5	chr5:126079615..126082602-chr5:126091477..126095307,3	K562	blood:
6	chr5:126011936..126014534-chr5:126093922..126095798,2	K562	blood:
7	chr5:126091797..126096824-chr5:126110600..126114072,4	MCF-7	breast:
8	chr5:126092644..126095197-chr5:126095579..126097728,2	K562	blood:

No data

Variant related genes	Relation type
RNU6-752P	TF binding region
ENSG00000113368	Chromatin interaction
ENSG00000251072	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers 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	36 gene(s)	inside rSNPs	diseases
3	nsv823208	chr5:126092945-126094740	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
4	esv1084612	chr5:126094300-126094301	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126087000-126097800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:126093400-126094600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr5:126093600-126095200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:126093600-126095800	Enhancers	Primary hematopoietic stem cells	blood
5	chr5:126093800-126094400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr5:126093800-126094400	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr5:126093800-126094600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr5:126093800-126094600	Flanking Active TSS	GM12878-XiMat	blood
9	chr5:126093800-126095200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr5:126093800-126095200	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr5:126093800-126095400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:126093800-126095400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr5:126093800-126095600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:126094000-126094400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:126094000-126094400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:126094000-126094400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:126094000-126094400	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr5:126094000-126094400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:126094000-126094400	Enhancers	Brain Germinal Matrix	brain
20	chr5:126094000-126094600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr5:126094000-126094600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr5:126094000-126094600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:126094000-126094600	Enhancers	Fetal Brain Male	brain
24	chr5:126094000-126094600	Flanking Active TSS	K562	blood
25	chr5:126094000-126095000	Enhancers	Primary T cells fromperipheralblood	blood
26	chr5:126094000-126095000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr5:126094000-126095200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr5:126094000-126095200	Enhancers	Primary B cells from peripheral blood	blood
29	chr5:126094000-126095200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr5:126094000-126095400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr5:126094200-126094400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr5:126094200-126094400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:126094200-126094400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:126094200-126094600	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr5:126094200-126094600	Flanking Active TSS	Dnd41	blood
36	chr5:126094200-126095000	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr5:126094200-126095000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr5:126094200-126095000	Enhancers	Fetal Thymus	thymus
39	chr5:126094200-126095800	Enhancers	Gastric	stomach

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