Variant report

Variant	rs187300607
Chromosome Location	chr5:126094073-126094074
allele	A/G
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	MAX	chr5:126093794-126094950	NB4	blood:	n/a	n/a
2	IKZF1	chr5:126093963-126094579	GM12878	blood:	n/a	n/a
3	SPI1	chr5:126094027-126094251	K562	blood:	n/a	chr5:126094148-126094161 chr5:126094151-126094158
4	EP300	chr5:126094063-126094632	GM12878	blood:	n/a	n/a
5	ZNF384	chr5:126093426-126095124	GM12878	blood:	n/a	n/a
6	SPI1	chr5:126094041-126094270	GM12891	blood:	n/a	chr5:126094148-126094161 chr5:126094151-126094158
7	HMGN3	chr5:126094047-126094318	K562	blood:	n/a	n/a
8	POLR2A	chr5:126094067-126094595	Raji	blood:	n/a	n/a
9	SPI1	chr5:126093831-126094622	HL-60	blood:	n/a	chr5:126094148-126094161 chr5:126094151-126094158
10	POLR2A	chr5:126093925-126094609	HL-60	blood:	n/a	n/a
11	TBP	chr5:126093733-126094627	GM12878	blood:	n/a	n/a
12	BHLHE40	chr5:126093988-126094686	GM12878	blood:	n/a	n/a
13	EBF1	chr5:126093788-126094569	GM12878	blood:	n/a	n/a
14	RUNX3	chr5:126093660-126094684	GM12878	blood:	n/a	n/a
15	GATA2	chr5:126093991-126094314	K562	blood:	n/a	chr5:126094109-126094120 chr5:126094087-126094097
16	CCNT2	chr5:126093960-126094125	K562	blood:	n/a	n/a
17	TEAD4	chr5:126093646-126094561	K562	blood:	n/a	n/a
18	NFIC	chr5:126093657-126094145	GM12878	blood:	n/a	n/a
19	REST	chr5:126093958-126094259	K562	blood:	n/a	chr5:126094201-126094209
20	RCOR1	chr5:126093978-126094524	K562	blood:	n/a	n/a
21	NFATC1	chr5:126093920-126094696	GM12878	blood:	n/a	n/a
22	RCOR1	chr5:126093959-126094403	K562	blood:	n/a	n/a
23	POLR2A	chr5:126094068-126094615	HL-60	blood:	n/a	n/a
24	ARID3A	chr5:126093824-126094235	K562	blood:	n/a	n/a
25	EP300	chr5:126093969-126094473	K562	blood:	n/a	n/a
26	MTA3	chr5:126094005-126094714	GM12878	blood:	n/a	n/a
27	CEBPB	chr5:126093773-126094506	K562	blood:	n/a	n/a
28	ZNF384	chr5:126094069-126094774	K562	blood:	n/a	n/a
29	JUND	chr5:126094023-126094314	K562	blood:	n/a	chr5:126094195-126094206
30	CHD2	chr5:126093780-126094561	GM12878	blood:	n/a	n/a
31	CUX1	chr5:126093855-126094335	K562	blood:	n/a	chr5:126094019-126094035
32	TAL1	chr5:126093966-126094279	K562	blood:	n/a	chr5:126094109-126094117
33	MYC	chr5:126093802-126094642	NB4	blood:	n/a	n/a

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

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

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126078600-126094200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:126084800-126094200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr5:126086600-126094200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:126087000-126097800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr5:126091600-126094200	Weak transcription	Fetal Thymus	thymus
6	chr5:126093200-126094200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:126093400-126094600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr5:126093600-126095200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:126093600-126095800	Enhancers	Primary hematopoietic stem cells	blood
10	chr5:126093800-126094200	Enhancers	Primary B cells from cord blood	blood
11	chr5:126093800-126094200	Enhancers	Dnd41	blood
12	chr5:126093800-126094400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:126093800-126094400	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr5:126093800-126094600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr5:126093800-126094600	Flanking Active TSS	GM12878-XiMat	blood
16	chr5:126093800-126095200	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr5:126093800-126095200	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr5:126093800-126095400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr5:126093800-126095400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr5:126093800-126095600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr5:126094000-126094200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr5:126094000-126094200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:126094000-126094400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:126094000-126094400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr5:126094000-126094400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:126094000-126094400	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr5:126094000-126094400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr5:126094000-126094400	Enhancers	Brain Germinal Matrix	brain
29	chr5:126094000-126094600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:126094000-126094600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr5:126094000-126094600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:126094000-126094600	Enhancers	Fetal Brain Male	brain
33	chr5:126094000-126094600	Flanking Active TSS	K562	blood
34	chr5:126094000-126095000	Enhancers	Primary T cells fromperipheralblood	blood
35	chr5:126094000-126095000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr5:126094000-126095200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr5:126094000-126095200	Enhancers	Primary B cells from peripheral blood	blood
38	chr5:126094000-126095200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr5:126094000-126095400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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