Variant report

Variant	rs543448774
Chromosome Location	chr15:73976490-73976491
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	RFX5	chr15:73975605-73976782	Hela-S3	cervix:	n/a	n/a
2	TAF1	chr15:73976252-73976973	HepG2	liver:	n/a	n/a
3	HDAC2	chr15:73975962-73976708	MCF-7	breast:	n/a	chr15:73976191-73976205 chr15:73976190-73976204 chr15:73975990-73976009
4	POLR2A	chr15:73976037-73976875	HCT-116	colon:	n/a	n/a
5	TBP	chr15:73975961-73976923	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr15:73976177-73977109	HepG2	liver:	n/a	n/a
7	MAZ	chr15:73975912-73977192	K562	blood:	n/a	n/a
8	POLR2A	chr15:73975934-73976813	SK-N-SH	brain:	n/a	n/a
9	TAF1	chr15:73976415-73977001	H1-hESC	embryonic stem cell:	n/a	n/a
10	TAF1	chr15:73976100-73976667	H1-neurons	neurons:	n/a	n/a
11	CHD2	chr15:73976054-73976563	HepG2	liver:	n/a	n/a
12	TAF1	chr15:73976264-73976558	H1-neurons	neurons:	n/a	n/a
13	REST	chr15:73975721-73978190	H1-neurons	neurons:	n/a	chr15:73976590-73976603 chr15:73977028-73977041 chr15:73976851-73976864 chr15:73976907-73976920 chr15:73976087-73976096
14	CTCF	chr15:73975872-73976492	HCT-116	colon:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110
15	POLR2A	chr15:73976244-73977474	H1-hESC	embryonic stem cell:	n/a	n/a
16	USF2	chr15:73976094-73976561	Hela-S3	cervix:	n/a	n/a
17	CHD2	chr15:73975999-73976520	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr15:73975950-73977872	H1-neurons	neurons:	n/a	n/a
19	MAX	chr15:73976214-73976861	SK-N-SH	brain:	n/a	n/a
20	REST	chr15:73976032-73976553	PFSK-1	brain:	n/a	chr15:73976087-73976096
21	BACH1	chr15:73976084-73976509	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr15:73975961-73976976	MCF-7	breast:	n/a	n/a
23	ZKSCAN1	chr15:73975957-73976624	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr15:73976326-73977003	MCF-7	breast:	n/a	n/a
25	POLR2A	chr15:73976051-73977459	Hela-S3	cervix:	n/a	n/a
26	MAX	chr15:73975994-73977034	A549	lung:	n/a	n/a
27	NFIC	chr15:73976018-73976660	ECC-1	luminal epithelium:	n/a	n/a
28	NR2F2	chr15:73975847-73976883	MCF-7	breast:	n/a	n/a
29	POLR2A	chr15:73976106-73979724	IMR90	lung:	n/a	n/a
30	E2F6	chr15:73976473-73976929	K562	blood:	n/a	n/a
31	CHD2	chr15:73975942-73977765	Hela-S3	cervix:	n/a	n/a
32	HMGN3	chr15:73976465-73976931	K562	blood:	n/a	n/a
33	JUND	chr15:73976049-73976526	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr15:73976403-73976948	Gliobla	brain:	n/a	n/a
35	POLR2A	chr15:73976177-73977022	Hela-S3	cervix:	n/a	n/a
36	SIN3AK20	chr15:73976073-73976784	SK-N-SH	brain:	n/a	n/a
37	UBTF	chr15:73975950-73976912	K562	blood:	n/a	n/a
38	FOXP2	chr15:73976280-73976975	PFSK-1	brain:	n/a	n/a
39	HDAC2	chr15:73975961-73976876	HepG2	liver:	n/a	chr15:73976191-73976205 chr15:73976190-73976204 chr15:73975990-73976009
40	TEAD4	chr15:73976212-73976542	H1-hESC	embryonic stem cell:	n/a	n/a
41	SIN3AK20	chr15:73976206-73976619	PFSK-1	brain:	n/a	n/a
42	BRCA1	chr15:73976304-73976504	Hela-S3	cervix:	n/a	n/a
43	EGR1	chr15:73976297-73976715	H1-hESC	embryonic stem cell:	n/a	chr15:73976539-73976553 chr15:73976523-73976537
44	POLR2A	chr15:73976187-73976988	ProgFib	skin:	n/a	n/a
45	BHLHE40	chr15:73975954-73976556	HepG2	liver:	n/a	n/a
46	TCF12	chr15:73975866-73976777	ECC-1	luminal epithelium:	n/a	n/a
47	MAX	chr15:73976247-73976673	K562	blood:	n/a	n/a
48	POLR2A	chr15:73975912-73977770	H1-neurons	neurons:	n/a	n/a
49	YY1	chr15:73976349-73976994	HepG2	liver:	n/a	chr15:73976851-73976865
50	POLR2A	chr15:73976470-73976956	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:73976209..73977099-chr5:179050114..179050702,2	Hela-S3	cervix:
2	chr15:73923335..73928580-chr15:73974636..73980559,10	MCF-7	breast:
3	chr15:73975489..73977527-chr15:73994222..73997098,2	MCF-7	breast:
4	chr15:73921937..73932817-chr15:73973872..73983627,19	MCF-7	breast:
5	chr11:125462293..125463031-chr15:73976142..73976842,2	HCT-116	colon:
6	chr15:73975048..73981150-chr15:73987719..73994346,13	MCF-7	breast:

Variant related genes	Relation type
CD276	TF binding region
ENSG00000156642	Chromatin interaction
ENSG00000134910	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000254671	Chromatin interaction
ENSG00000103855	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	nsv1037540	chr15:73712637-73982420	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv3434440	chr15:73975149-73978997	Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3341618	chr15:73975424-73978272	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73972000-73977000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:73975800-73976800	Enhancers	Spleen	Spleen
3	chr15:73975800-73977000	Active TSS	Brain Cingulate Gyrus	brain
4	chr15:73975800-73977200	Enhancers	Fetal Brain Male	brain
5	chr15:73975800-73978000	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr15:73975800-73978000	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr15:73975800-73978200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr15:73975800-73978200	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr15:73976000-73976600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:73976000-73976600	Flanking Active TSS	Fetal Muscle Trunk	muscle
11	chr15:73976000-73976600	Flanking Active TSS	Fetal Muscle Leg	muscle
12	chr15:73976000-73976600	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr15:73976000-73976600	Flanking Active TSS	NHLF	lung
14	chr15:73976000-73977000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
15	chr15:73976000-73977000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr15:73976000-73977200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
17	chr15:73976000-73977200	Active TSS	Brain Anterior Caudate	brain
18	chr15:73976000-73977600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr15:73976000-73977800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr15:73976000-73977800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr15:73976000-73977800	Active TSS	Fetal Kidney	kidney
22	chr15:73976000-73978000	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr15:73976000-73978000	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr15:73976000-73978200	Active TSS	H9 Cell Line	embryonic stem cell
25	chr15:73976000-73978200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr15:73976000-73978400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr15:73976000-73978600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr15:73976200-73976600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
29	chr15:73976200-73976600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
30	chr15:73976200-73976600	Flanking Active TSS	Lung	lung
31	chr15:73976200-73976600	Active TSS	Right Atrium	heart
32	chr15:73976200-73976800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
33	chr15:73976200-73976800	Active TSS	Colonic Mucosa	Colon
34	chr15:73976200-73976800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr15:73976200-73976800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
36	chr15:73976200-73977000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
37	chr15:73976200-73977000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
38	chr15:73976200-73977800	Active TSS	Gastric	stomach
39	chr15:73976200-73978000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr15:73976200-73978000	Active TSS	Brain Angular Gyrus	brain
41	chr15:73976200-73978000	Active TSS	Brain Germinal Matrix	brain
42	chr15:73976200-73978000	Active TSS	Brain Hippocampus Middle	brain
43	chr15:73976200-73978000	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr15:73976200-73978000	Active TSS	HSMMtube	muscle
45	chr15:73976200-73978200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr15:73976200-73978200	Active TSS	Aorta	Aorta
47	chr15:73976400-73976600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
48	chr15:73976400-73976600	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr15:73976400-73976600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr15:73976400-73976600	Bivalent/Poised TSS	GM12878-XiMat	blood

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