Variant report

Variant	rs541222915
Chromosome Location	chr15:41855011-41855012
allele	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	ETS1	chr15:41854972-41855252	K562	blood:	n/a	n/a
2	PML	chr15:41854961-41855384	K562	blood:	n/a	n/a
3	POLR2A	chr15:41854978-41855021	H1-hESC	embryonic stem cell:	n/a	n/a
4	NR2F2	chr15:41854782-41855510	K562	blood:	n/a	n/a
5	YY1	chr15:41854971-41855387	K562	blood:	n/a	n/a
6	EP300	chr15:41855002-41855416	K562	blood:	n/a	chr15:41855086-41855102
7	RCOR1	chr15:41854991-41855455	K562	blood:	n/a	n/a
8	ETS1	chr15:41854920-41855408	K562	blood:	n/a	n/a
9	EGR1	chr15:41855011-41855429	K562	blood:	n/a	chr15:41855256-41855269
10	EGR1	chr15:41854894-41855478	K562	blood:	n/a	chr15:41855256-41855269
11	HDAC2	chr15:41854893-41855392	K562	blood:	n/a	n/a
12	POLR2A	chr15:41854869-41855524	K562	blood:	n/a	n/a
13	POLR2A	chr15:41854875-41855709	K562	blood:	n/a	n/a
14	USF1	chr15:41854888-41855299	K562	blood:	n/a	n/a
15	MAX	chr15:41854988-41855384	K562	blood:	n/a	n/a
16	POLR2A	chr15:41854897-41855468	H1-hESC	embryonic stem cell:	n/a	n/a
17	USF1	chr15:41854852-41855342	K562	blood:	n/a	n/a
18	HDAC2	chr15:41854935-41855433	K562	blood:	n/a	n/a
19	POLR2A	chr15:41853242-41855924	K562	blood:	n/a	n/a
20	NR2F2	chr15:41854939-41855329	K562	blood:	n/a	n/a
21	TBP	chr15:41854978-41855050	H1-hESC	embryonic stem cell:	n/a	n/a
22	STAT5A	chr15:41854925-41855447	K562	blood:	n/a	chr15:41855394-41855414 chr15:41855400-41855409 chr15:41855394-41855414 chr15:41855397-41855411 chr15:41855399-41855408 chr15:41855400-41855408
23	STAT5A	chr15:41854884-41855592	K562	blood:	n/a	chr15:41855394-41855414 chr15:41855400-41855409 chr15:41855394-41855414 chr15:41855397-41855411 chr15:41855399-41855408 chr15:41855400-41855408
24	BCL3	chr15:41854865-41855368	K562	blood:	n/a	n/a
25	UBTF	chr15:41854990-41855483	K562	blood:	n/a	n/a
26	GATA2	chr15:41854901-41855432	K562	blood:	n/a	chr15:41855097-41855110
27	YY1	chr15:41854990-41855153	K562	blood:	n/a	n/a
28	TEAD4	chr15:41854857-41855599	K562	blood:	n/a	n/a
29	SP1	chr15:41854951-41855500	K562	blood:	n/a	chr15:41855326-41855340 chr15:41855218-41855232
30	POLR2A	chr15:41854866-41856211	K562	blood:	n/a	n/a
31	BHLHE40	chr15:41854934-41855528	K562	blood:	n/a	n/a
32	MAFK	chr15:41854925-41855256	K562	blood:	n/a	n/a
33	TAL1	chr15:41854931-41855374	K562	blood:	n/a	n/a
34	GABPA	chr15:41854871-41855357	K562	blood:	n/a	n/a
35	PML	chr15:41854893-41855384	K562	blood:	n/a	n/a
36	ZBTB7A	chr15:41854974-41855447	K562	blood:	n/a	n/a
37	TRIM28	chr15:41854966-41855541	K562	blood:	n/a	n/a
38	MAX	chr15:41854912-41855504	K562	blood:	n/a	n/a
39	CBX3	chr15:41854889-41855496	K562	blood:	n/a	n/a
40	GABPA	chr15:41854924-41855446	K562	blood:	n/a	n/a
41	ZMIZ1	chr15:41854964-41855367	K562	blood:	n/a	n/a
42	POLR2A	chr15:41854908-41855389	K562	blood:	n/a	n/a
43	MAZ	chr15:41854967-41855594	K562	blood:	n/a	n/a
44	REST	chr15:41854939-41855328	K562	blood:	n/a	chr15:41854950-41854958
45	ELF1	chr15:41854912-41855412	K562	blood:	n/a	n/a
46	TEAD4	chr15:41854873-41855406	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:41853024..41855719-chr15:41894877..41896959,2	K562	blood:
2	chr15:41853319..41856101-chr15:41857506..41859513,2	MCF-7	breast:
3	chr15:41849971..41852250-chr15:41853838..41856239,2	MCF-7	breast:
4	chr15:41853373..41858542-chr15:41950830..41955637,10	K562	blood:
5	chr15:41849459..41853162-chr15:41854225..41857161,4	MCF-7	breast:
6	chr15:41853749..41856717-chr15:41950905..41954753,5	K562	blood:
7	chr15:41854411..41856736-chr15:42132704..42135389,2	K562	blood:

Variant related genes	Relation type
TYRO3	TF binding region
ENSG00000243708	Chromatin interaction
ENSG00000092445	Chromatin interaction
ENSG00000174197	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3312256	chr15:41854897-41856388	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3312257	chr15:41854914-41856383	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41852200-41877400	Weak transcription	Aorta	Aorta
2	chr15:41852400-41855200	Weak transcription	HSMM	muscle
3	chr15:41852400-41859600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr15:41852400-41860600	Weak transcription	HUVEC	blood vessel
5	chr15:41852400-41877200	Weak transcription	Colon Smooth Muscle	Colon
6	chr15:41852600-41855400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:41852600-41855400	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr15:41852600-41856800	Enhancers	HepG2	liver
9	chr15:41852600-41858600	Weak transcription	NHDF-Ad	bronchial
10	chr15:41852600-41859600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:41852600-41877400	Weak transcription	HMEC	breast
12	chr15:41852800-41855400	Enhancers	Fetal Muscle Trunk	muscle
13	chr15:41852800-41857600	Genic enhancers	Fetal Stomach	stomach
14	chr15:41852800-41877400	Weak transcription	NHEK	skin
15	chr15:41853000-41856000	Weak transcription	Fetal Heart	heart
16	chr15:41853000-41856400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr15:41853000-41856400	Weak transcription	Lung	lung
18	chr15:41853000-41861800	Genic enhancers	Fetal Intestine Large	intestine
19	chr15:41853000-41862000	Genic enhancers	Fetal Intestine Small	intestine
20	chr15:41853200-41855600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr15:41853200-41858200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr15:41853200-41860200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr15:41853200-41861800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr15:41853200-41863200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr15:41853200-41872600	Weak transcription	Hela-S3	cervix
26	chr15:41853400-41856600	Weak transcription	Right Ventricle	heart
27	chr15:41853400-41857400	Enhancers	Ovary	ovary
28	chr15:41853400-41859400	Genic enhancers	HUES64 Cell Line	embryonic stem cell
29	chr15:41853400-41859800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr15:41853400-41870600	Weak transcription	Stomach Mucosa	stomach
31	chr15:41853600-41855400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:41853600-41855600	Enhancers	NH-A	brain
33	chr15:41853600-41856000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:41853600-41856000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr15:41853600-41856200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr15:41853600-41857200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr15:41853600-41857600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
38	chr15:41853600-41859800	Genic enhancers	H1 Cell Line	embryonic stem cell
39	chr15:41853600-41860000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr15:41853600-41862200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr15:41853800-41855600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
42	chr15:41853800-41855600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr15:41853800-41856000	Genic enhancers	K562	blood
44	chr15:41853800-41856400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr15:41853800-41861400	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr15:41853800-41864000	Genic enhancers	Brain Cingulate Gyrus	brain
47	chr15:41854000-41855400	Genic enhancers	Stomach Smooth Muscle	stomach
48	chr15:41854000-41860200	Strong transcription	Dnd41	blood
49	chr15:41854000-41860800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr15:41854000-41871400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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