Variant report

Variant	rs562831867
Chromosome Location	chr15:72490396-72490397
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:157)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:157 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:72489503-72494887	PFSK-1	brain:	n/a	n/a
2	BCL3	chr15:72490013-72491688	A549	lung:	n/a	chr15:72491061-72491070
3	POLR2A	chr15:72490175-72491216	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr15:72490196-72491882	GM12878	blood:	n/a	n/a
5	POLR2A	chr15:72490088-72490649	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr15:72490200-72491435	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr15:72489689-72496123	GM12878	blood:	n/a	n/a
8	POLR2A	chr15:72489741-72491479	GM18951	blood:	n/a	n/a
9	ATF2	chr15:72490172-72491147	GM12878	blood:	n/a	n/a
10	USF1	chr15:72490177-72490595	A549	lung:	n/a	n/a
11	POLR2A	chr15:72489825-72491068	HUVEC	blood vessel:	n/a	n/a
12	BCLAF1	chr15:72490198-72491275	GM12878	blood:	n/a	chr15:72491061-72491070
13	GATA3	chr15:72489535-72490741	A549	lung:	n/a	n/a
14	JUND	chr15:72490008-72491276	HCT-116	colon:	n/a	n/a
15	POLR2A	chr15:72490228-72501294	GM12878	blood:	n/a	n/a
16	BCL3	chr15:72489954-72491190	GM12878	blood:	n/a	chr15:72491061-72491070
17	YY1	chr15:72490168-72490436	HCT-116	colon:	n/a	chr15:72490213-72490227
18	POLR2A	chr15:72490186-72491965	GM12892	blood:	n/a	n/a
19	NFATC1	chr15:72490115-72491343	GM12878	blood:	n/a	n/a
20	POU2F2	chr15:72490201-72490963	GM12878	blood:	n/a	n/a
21	SIN3A	chr15:72490374-72490606	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr15:72489927-72490809	MCF10A-Er-Src	breast:	n/a	n/a
23	PML	chr15:72490159-72491750	GM12878	blood:	n/a	n/a
24	POLR2A	chr15:72490100-72491602	GM12892	blood:	n/a	n/a
25	POLR2A	chr15:72490153-72497920	SK-N-SH	brain:	n/a	n/a
26	ELF1	chr15:72490164-72491149	GM12878	blood:	n/a	chr15:72490225-72490237
27	TBP	chr15:72490277-72490455	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr15:72489804-72494410	Hela-S3	cervix:	n/a	n/a
29	MTA3	chr15:72490165-72491179	GM12878	blood:	n/a	n/a
30	SIN3AK20	chr15:72490210-72490856	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr15:72490260-72491615	HepG2	liver:	n/a	n/a
32	MBD4	chr15:72490382-72490691	HepG2	liver:	n/a	n/a
33	JUND	chr15:72490119-72490988	A549	lung:	n/a	n/a
34	E2F6	chr15:72489713-72490490	H1-hESC	embryonic stem cell:	n/a	chr15:72490114-72490124
35	TCF3	chr15:72490366-72490611	GM12878	blood:	n/a	n/a
36	POLR2A	chr15:72490178-72490558	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr15:72490151-72491924	GM12891	blood:	n/a	n/a
38	POLR2A	chr15:72490282-72491762	K562	blood:	n/a	n/a
39	POLR2A	chr15:72490190-72490480	H1-hESC	embryonic stem cell:	n/a	n/a
40	E2F6	chr15:72489998-72490616	H1-hESC	embryonic stem cell:	n/a	chr15:72490114-72490124
41	PBX3	chr15:72489637-72490565	SK-N-SH	brain:	n/a	chr15:72490389-72490398 chr15:72490237-72490246
42	POLR2A	chr15:72489886-72496219	Hela-S3	cervix:	n/a	n/a
43	RUNX3	chr15:72490179-72491030	GM12878	blood:	n/a	n/a
44	POLR2A	chr15:72490262-72491342	K562	blood:	n/a	n/a
45	ATF2	chr15:72490170-72490548	H1-hESC	embryonic stem cell:	n/a	n/a
46	ATF2	chr15:72490197-72490721	H1-hESC	embryonic stem cell:	n/a	n/a
47	ELF1	chr15:72490122-72491028	A549	lung:	n/a	chr15:72490225-72490237
48	POLR2A	chr15:72490191-72491177	SK-N-SH	brain:	n/a	n/a
49	GABPA	chr15:72489697-72490523	H1-hESC	embryonic stem cell:	n/a	chr15:72490222-72490231
50	CHD2	chr15:72490249-72490767	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:72490380-72490430	NT2-D1	testis:	n/a
2	chr15:72490380-72490430	H1-hESC	embryonic stem cell:	embryo
3	chr15:72490380-72490430	AoSMC	blood vessel:	n/a
4	chr15:72490380-72490430	HL-60	blood:	n/a
5	chr15:72490380-72490430	LNCaP	prostate:	n/a
6	chr15:72490380-72490430	NB4	blood:	n/a
7	chr15:72490380-72490430	Hela-S3	cervix:	n/a
8	chr15:72490380-72490430	BJ	skin:	n/a
9	chr15:72490380-72490430	A549	lung:	n/a
10	chr15:72490380-72490430	NH-A	brain:	n/a
11	chr15:72490380-72490430	MCF10A-Er-Src	breast:	n/a
12	chr15:72490380-72490430	SK-N-SH_RA	brain:	n/a
13	chr15:72490380-72490430	AG10803	skin:	n/a
14	chr15:72490380-72490430	SK-N-MC	brain:	n/a
15	chr15:72490380-72490430	HUVEC	blood vessel:	n/a
16	chr15:72490380-72490430	AG09319	gingival:	n/a
17	chr15:72490380-72490430	HRE	kidney:	n/a
18	chr15:72490380-72490430	HRCEpiC	kidney:	n/a
19	chr15:72490380-72490430	PrEC	prostate:	n/a
20	chr15:72490380-72490430	K562	blood:	n/a
21	chr15:72490380-72490430	NHBE	bronchial:	n/a
22	chr15:72490380-72490430	PFSK-1	brain:	n/a
23	chr15:72490380-72490430	T-47D	breast:	n/a
24	chr15:72490380-72490430	SKMC	muscle:	n/a
25	chr15:72490380-72490430	CMK	blood:	n/a
26	chr15:72490380-72490430	GM12891	blood:	n/a
27	chr15:72490380-72490430	U87	brain:	n/a
28	chr15:72490380-72490430	HMEC	breast:	n/a
29	chr15:72490380-72490430	HCPEpiC	choroid plexus:	n/a
30	chr15:72490380-72490430	Jurkat	blood:	n/a
31	chr15:72490380-72490430	Hepatocyte	liver:	n/a
32	chr15:72490380-72490430	GM12878	blood:	n/a
33	chr15:72490380-72490430	HCF	heart:	n/a
34	chr15:72490380-72490430	GM12892	blood:	n/a
35	chr15:72490380-72490430	AG04450	lung:	fetal
36	chr15:72490380-72490430	NHDF-neo	bronchial:	n/a
37	chr15:72490380-72490430	ProgFib	skin:	n/a
38	chr15:72490380-72490430	SK-N-SH	brain:	n/a
39	chr15:72490380-72490430	HPAEpiC	pulmonary alveolar:	n/a
40	chr15:72490380-72490430	HNPCEpiC	eye:	n/a
41	chr15:72490380-72490430	IMR90	lung:	fetal
42	chr15:72490380-72490430	HAEpiC	amniotic membrane:	n/a
43	chr15:72490380-72490430	ECC-1	luminal epithelium:	n/a
44	chr15:72490380-72490430	BE2_C	brain:	n/a
45	chr15:72490380-72490430	GM19239	blood:	n/a
46	chr15:72490380-72490430	GM06990	blood:	n/a
47	chr15:72490380-72490430	MCF-7	breast:	n/a
48	chr15:72490380-72490430	SAEC	small airway:	n/a
49	chr15:72490380-72490430	HCM	heart:	n/a
50	chr15:72490380-72490430	HepG2	liver:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:72484916..72487444-chr15:72490191..72493716,4	MCF-7	breast:
2	chr15:72489508..72492052-chr15:72496693..72498858,2	MCF-7	breast:
3	chr15:72488199..72491266-chr15:72491481..72494588,4	MCF-7	breast:
4	chr15:72488604..72491164-chr15:72493836..72495912,3	MCF-7	breast:

No data

Variant related genes	Relation type
GRAMD2	TF binding region
GRAMD2	CpG island
ENSG00000067225	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers 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	144 gene(s)	inside rSNPs	diseases
2	nsv833051	chr15:72315471-72508429	Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
4	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
5	esv3409471	chr15:72488923-72491471	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72485200-72490400	Weak transcription	A549	lung
2	chr15:72485200-72490400	Weak transcription	HSMM	muscle
3	chr15:72487600-72493600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:72487800-72490400	Weak transcription	GM12878-XiMat	blood
5	chr15:72488000-72490400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr15:72488000-72491000	Weak transcription	K562	blood
7	chr15:72488400-72490400	Weak transcription	HSMMtube	muscle
8	chr15:72488800-72490600	Weak transcription	Dnd41	blood
9	chr15:72489000-72490600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr15:72489000-72490600	Flanking Active TSS	HMEC	breast
11	chr15:72489000-72490800	Active TSS	H9 Cell Line	embryonic stem cell
12	chr15:72489000-72491000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr15:72489200-72490600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr15:72489200-72490600	Enhancers	Fetal Heart	heart
15	chr15:72489200-72491600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr15:72489400-72490400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
17	chr15:72489400-72490400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr15:72489400-72490400	Active TSS	Psoas Muscle	Psoas
19	chr15:72489400-72490600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
20	chr15:72489400-72490600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr15:72489400-72490600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr15:72489400-72490800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr15:72489600-72490400	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr15:72489600-72490400	Bivalent/Poised TSS	Fetal Stomach	stomach
25	chr15:72489600-72490600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:72489600-72490600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr15:72489600-72490600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
28	chr15:72489600-72490600	Active TSS	Brain Hippocampus Middle	brain
29	chr15:72489600-72491000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
30	chr15:72489800-72490400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr15:72489800-72490400	Enhancers	Primary B cells from peripheral blood	blood
32	chr15:72489800-72490400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr15:72489800-72490400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr15:72489800-72490400	Active TSS	Brain Anterior Caudate	brain
35	chr15:72489800-72490400	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr15:72489800-72490400	Active TSS	Esophagus	oesophagus
37	chr15:72489800-72490400	Active TSS	Ovary	ovary
38	chr15:72489800-72490400	Active TSS	Hela-S3	cervix
39	chr15:72489800-72490400	Active TSS	HepG2	liver
40	chr15:72489800-72490400	Active TSS	HUVEC	blood vessel
41	chr15:72489800-72490400	Active TSS	NHEK	skin
42	chr15:72489800-72490400	Active TSS	Osteobl	bone
43	chr15:72489800-72490600	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr15:72489800-72490800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr15:72489800-72490800	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr15:72489800-72490800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr15:72489800-72490800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr15:72489800-72490800	Weak transcription	NHDF-Ad	bronchial
49	chr15:72489800-72491000	Weak transcription	Brain Angular Gyrus	brain
50	chr15:72489800-72491000	Enhancers	Placenta	Placenta

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