Variant report

Variant	rs74026247
Chromosome Location	chr15:73976252-73976253
allele	A/G/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	RFX5	chr15:73975958-73976423	HepG2	liver:	n/a	n/a
4	HDAC2	chr15:73975962-73976708	MCF-7	breast:	n/a	chr15:73976191-73976205 chr15:73976190-73976204 chr15:73975990-73976009
5	POLR2A	chr15:73976037-73976875	HCT-116	colon:	n/a	n/a
6	TCF12	chr15:73975996-73976400	A549	lung:	n/a	n/a
7	TBP	chr15:73975961-73976923	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr15:73976177-73977109	HepG2	liver:	n/a	n/a
9	MAZ	chr15:73975912-73977192	K562	blood:	n/a	n/a
10	CTCF	chr15:73976240-73976390	NHDF-neo	bronchial:	n/a	n/a
11	POLR2A	chr15:73975934-73976813	SK-N-SH	brain:	n/a	n/a
12	CTCF	chr15:73975926-73976322	IMR90	lung:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110
13	ELF1	chr15:73976011-73976278	K562	blood:	n/a	chr15:73976194-73976205
14	TAF1	chr15:73976100-73976667	H1-neurons	neurons:	n/a	n/a
15	RCOR1	chr15:73975733-73976333	HepG2	liver:	n/a	n/a
16	CHD2	chr15:73976054-73976563	HepG2	liver:	n/a	n/a
17	ZNF143	chr15:73975748-73976325	K562	blood:	n/a	n/a
18	REST	chr15:73975721-73978190	H1-neurons	neurons:	n/a	chr15:73976590-73976603 chr15:73977028-73977041 chr15:73976851-73976864 chr15:73976907-73976920 chr15:73976087-73976096
19	CTCF	chr15:73975872-73976492	HCT-116	colon:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110
20	POLR2A	chr15:73976244-73977474	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr15:73976120-73976270	HCM	heart:	n/a	n/a
22	USF2	chr15:73976094-73976561	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr15:73976016-73976271	SK-N-SH_RA	brain:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110
24	CHD2	chr15:73975999-73976520	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr15:73975950-73977872	H1-neurons	neurons:	n/a	n/a
26	GTF2F1	chr15:73975942-73976475	Hela-S3	cervix:	n/a	n/a
27	RAD21	chr15:73975895-73976402	ECC-1	luminal epithelium:	n/a	chr15:73976101-73976110 chr15:73976155-73976165 chr15:73976100-73976119
28	POLR2A	chr15:73976107-73976348	U87	brain:	n/a	n/a
29	CTCF	chr15:73975873-73976274	H1-hESC	embryonic stem cell:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110
30	MAX	chr15:73976214-73976861	SK-N-SH	brain:	n/a	n/a
31	REST	chr15:73976032-73976553	PFSK-1	brain:	n/a	chr15:73976087-73976096
32	CTCF	chr15:73975836-73976345	MCF-7	breast:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110
33	BACH1	chr15:73976084-73976509	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr15:73975961-73976976	MCF-7	breast:	n/a	n/a
35	HEY1	chr15:73976034-73976459	HepG2	liver:	n/a	chr15:73976064-73976079
36	RAD21	chr15:73975849-73976429	MCF-7	breast:	n/a	chr15:73976101-73976110 chr15:73976155-73976165 chr15:73976100-73976119
37	ZKSCAN1	chr15:73975957-73976624	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr15:73976051-73977459	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr15:73975962-73976275	H1-hESC	embryonic stem cell:	n/a	chr15:73976099-73976117 chr15:73976101-73976122 chr15:73976103-73976110
40	MAX	chr15:73975994-73977034	A549	lung:	n/a	n/a
41	TAF1	chr15:73975985-73976411	H1-hESC	embryonic stem cell:	n/a	n/a
42	NFIC	chr15:73976018-73976660	ECC-1	luminal epithelium:	n/a	n/a
43	MAX	chr15:73975955-73976277	K562	blood:	n/a	n/a
44	NR2F2	chr15:73975847-73976883	MCF-7	breast:	n/a	n/a
45	POLR2A	chr15:73976106-73979724	IMR90	lung:	n/a	n/a
46	ELF1	chr15:73975943-73976383	GM12878	blood:	n/a	chr15:73976194-73976205
47	CHD2	chr15:73975942-73977765	Hela-S3	cervix:	n/a	n/a
48	JUND	chr15:73976049-73976526	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr15:73976177-73977022	Hela-S3	cervix:	n/a	n/a
50	SIN3AK20	chr15:73976073-73976784	SK-N-SH	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:73976229-73976279	HL-60	blood:	n/a
2	chr15:73976229-73976279	AG09309	skin:	n/a
3	chr15:73976229-73976279	SK-N-SH_RA	brain:	n/a
4	chr15:73976229-73976279	NHDF-neo	bronchial:	n/a
5	chr15:73976229-73976279	GM12878	blood:	n/a
6	chr15:73976229-73976279	RPTEC	kidney:	n/a
7	chr15:73976229-73976279	SKMC	muscle:	n/a
8	chr15:73976229-73976279	GM12891	blood:	n/a
9	chr15:73976229-73976279	HEK293	kidney:	embryo
10	chr15:73976229-73976279	PANC-1	pancreas:	n/a
11	chr15:73976229-73976279	NB4	blood:	n/a
12	chr15:73976229-73976279	ovcar-3	ovarian:	n/a
13	chr15:73976229-73976279	Hela-S3	cervix:	n/a
14	chr15:73976229-73976279	HRCEpiC	kidney:	n/a
15	chr15:73976229-73976279	MCF-7	breast:	n/a
16	chr15:73976229-73976279	HCM	heart:	n/a
17	chr15:73976229-73976279	AoSMC	blood vessel:	n/a
18	chr15:73976229-73976279	NHBE	bronchial:	n/a
19	chr15:73976229-73976279	SK-N-SH	brain:	n/a
20	chr15:73976229-73976279	GM12892	blood:	n/a
21	chr15:73976229-73976279	PFSK-1	brain:	n/a
22	chr15:73976229-73976279	HNPCEpiC	eye:	n/a
23	chr15:73976229-73976279	HRPEpiC	eye:	n/a
24	chr15:73976229-73976279	AG10803	skin:	n/a
25	chr15:73976229-73976279	AG04449	skin:	fetal
26	chr15:73976229-73976279	Jurkat	blood:	n/a
27	chr15:73976229-73976279	BJ	skin:	n/a
28	chr15:73976229-73976279	U87	brain:	n/a
29	chr15:73976229-73976279	HMEC	breast:	n/a
30	chr15:73976229-73976279	Caco-2	colon:	n/a
31	chr15:73976229-73976279	HIPEpiC	eye:	n/a
32	chr15:73976229-73976279	MCF10A-Er-Src	breast:	n/a
33	chr15:73976229-73976279	HUVEC	blood vessel:	n/a
34	chr15:73976229-73976279	BE2_C	brain:	n/a
35	chr15:73976229-73976279	HPAEpiC	pulmonary alveolar:	n/a
36	chr15:73976229-73976279	ECC-1	luminal epithelium:	n/a
37	chr15:73976229-73976279	H1-hESC	embryonic stem cell:	embryo
38	chr15:73976229-73976279	HCT-116	colon:	n/a
39	chr15:73976229-73976279	HAEpiC	amniotic membrane:	n/a
40	chr15:73976229-73976279	GM19239	blood:	n/a
41	chr15:73976229-73976279	AG09319	gingival:	n/a
42	chr15:73976229-73976279	IMR90	lung:	fetal
43	chr15:73976229-73976279	NT2-D1	testis:	n/a
44	chr15:73976229-73976279	AG04450	lung:	fetal
45	chr15:73976229-73976279	A549	lung:	n/a
46	chr15:73976229-73976279	SK-N-MC	brain:	n/a
47	chr15:73976229-73976279	HRE	kidney:	n/a
48	chr15:73976229-73976279	K562	blood:	n/a
49	chr15:73976229-73976279	Hepatocyte	liver:	n/a
50	chr15:73976229-73976279	HCPEpiC	choroid plexus:	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
CD276	CpG island
ENSG00000254671	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000103855	Chromatin interaction
ENSG00000156642	Chromatin interaction
ENSG00000134910	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:114 , 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	chr15:73975600-73976400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr15:73975600-73976400	Enhancers	Fetal Heart	heart
4	chr15:73975800-73976400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr15:73975800-73976400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr15:73975800-73976400	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr15:73975800-73976400	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr15:73975800-73976400	Flanking Active TSS	Fetal Brain Female	brain
9	chr15:73975800-73976400	Flanking Active TSS	Fetal Intestine Small	intestine
10	chr15:73975800-73976400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr15:73975800-73976400	Flanking Active TSS	Osteobl	bone
12	chr15:73975800-73976800	Enhancers	Spleen	Spleen
13	chr15:73975800-73977000	Active TSS	Brain Cingulate Gyrus	brain
14	chr15:73975800-73977200	Enhancers	Fetal Brain Male	brain
15	chr15:73975800-73978000	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr15:73975800-73978000	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr15:73975800-73978200	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr15:73975800-73978200	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr15:73976000-73976400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
20	chr15:73976000-73976400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:73976000-73976400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr15:73976000-73976400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr15:73976000-73976400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr15:73976000-73976400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr15:73976000-73976400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr15:73976000-73976400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr15:73976000-73976400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:73976000-73976400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr15:73976000-73976400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr15:73976000-73976400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr15:73976000-73976400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr15:73976000-73976400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr15:73976000-73976400	Flanking Active TSS	Liver	Liver
34	chr15:73976000-73976400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr15:73976000-73976400	Flanking Active TSS	Colon Smooth Muscle	Colon
36	chr15:73976000-73976400	Enhancers	Esophagus	oesophagus
37	chr15:73976000-73976400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr15:73976000-73976400	Flanking Active TSS	Fetal Intestine Large	intestine
39	chr15:73976000-73976400	Flanking Active TSS	Placenta	Placenta
40	chr15:73976000-73976400	Flanking Active TSS	Fetal Stomach	stomach
41	chr15:73976000-73976400	Flanking Active TSS	Pancreas	Pancrea
42	chr15:73976000-73976400	Flanking Active TSS	Psoas Muscle	Psoas
43	chr15:73976000-73976400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr15:73976000-73976400	Flanking Active TSS	Rectal Smooth Muscle	rectum
45	chr15:73976000-73976400	Flanking Active TSS	Right Ventricle	heart
46	chr15:73976000-73976400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr15:73976000-73976400	Flanking Active TSS	A549	lung
48	chr15:73976000-73976400	Flanking Active TSS	HUVEC	blood vessel
49	chr15:73976000-73976400	Flanking Active TSS	NH-A	brain
50	chr15:73976000-73976400	Flanking Active TSS	NHDF-Ad	bronchial

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