Variant report

Variant	rs370564970
Chromosome Location	chr15:72490498-72490499
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:151)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:151 , 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	EP300	chr15:72490426-72491255	A549	lung:	n/a	n/a
10	ATF2	chr15:72490172-72491147	GM12878	blood:	n/a	n/a
11	USF1	chr15:72490177-72490595	A549	lung:	n/a	n/a
12	POLR2A	chr15:72489825-72491068	HUVEC	blood vessel:	n/a	n/a
13	BCLAF1	chr15:72490198-72491275	GM12878	blood:	n/a	chr15:72491061-72491070
14	GATA3	chr15:72489535-72490741	A549	lung:	n/a	n/a
15	JUND	chr15:72490008-72491276	HCT-116	colon:	n/a	n/a
16	POLR2A	chr15:72490228-72501294	GM12878	blood:	n/a	n/a
17	BCL3	chr15:72489954-72491190	GM12878	blood:	n/a	chr15:72491061-72491070
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	POLR2A	chr15:72489804-72494410	Hela-S3	cervix:	n/a	n/a
28	MTA3	chr15:72490165-72491179	GM12878	blood:	n/a	n/a
29	SIN3AK20	chr15:72490210-72490856	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr15:72490260-72491615	HepG2	liver:	n/a	n/a
31	MBD4	chr15:72490382-72490691	HepG2	liver:	n/a	n/a
32	JUND	chr15:72490119-72490988	A549	lung:	n/a	n/a
33	TCF3	chr15:72490366-72490611	GM12878	blood:	n/a	n/a
34	POLR2A	chr15:72490178-72490558	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr15:72490151-72491924	GM12891	blood:	n/a	n/a
36	PBX3	chr15:72490437-72490647	GM12878	blood:	n/a	n/a
37	POLR2A	chr15:72490282-72491762	K562	blood:	n/a	n/a
38	E2F6	chr15:72489998-72490616	H1-hESC	embryonic stem cell:	n/a	chr15:72490114-72490124
39	PBX3	chr15:72489637-72490565	SK-N-SH	brain:	n/a	chr15:72490389-72490398 chr15:72490237-72490246
40	POLR2A	chr15:72489886-72496219	Hela-S3	cervix:	n/a	n/a
41	RUNX3	chr15:72490179-72491030	GM12878	blood:	n/a	n/a
42	PML	chr15:72490498-72490985	GM12878	blood:	n/a	n/a
43	POLR2A	chr15:72490262-72491342	K562	blood:	n/a	n/a
44	ATF2	chr15:72490170-72490548	H1-hESC	embryonic stem cell:	n/a	n/a
45	ATF2	chr15:72490197-72490721	H1-hESC	embryonic stem cell:	n/a	n/a
46	ELF1	chr15:72490122-72491028	A549	lung:	n/a	chr15:72490225-72490237
47	POLR2A	chr15:72490191-72491177	SK-N-SH	brain:	n/a	n/a
48	GABPA	chr15:72489697-72490523	H1-hESC	embryonic stem cell:	n/a	chr15:72490222-72490231
49	CHD2	chr15:72490249-72490767	K562	blood:	n/a	n/a
50	SMC3	chr15:72489764-72491276	Hela-S3	cervix:	n/a	chr15:72490300-72490310 chr15:72491235-72491243

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:72490448-72490498	PFSK-1	brain:	n/a
2	chr15:72490448-72490498	MCF10A-Er-Src	breast:	n/a
3	chr15:72490448-72490498	BJ	skin:	n/a
4	chr15:72490448-72490498	HMEC	breast:	n/a
5	chr15:72490448-72490498	SKMC	muscle:	n/a
6	chr15:72490448-72490498	HUVEC	blood vessel:	n/a
7	chr15:72490448-72490498	HCPEpiC	choroid plexus:	n/a
8	chr15:72490448-72490498	GM06990	blood:	n/a
9	chr15:72490448-72490498	ECC-1	luminal epithelium:	n/a
10	chr15:72490448-72490498	Caco-2	colon:	n/a
11	chr15:72490448-72490498	CMK	blood:	n/a
12	chr15:72490448-72490498	HRE	kidney:	n/a
13	chr15:72490448-72490498	SK-N-SH_RA	brain:	n/a
14	chr15:72490448-72490498	NT2-D1	testis:	n/a
15	chr15:72490448-72490498	NB4	blood:	n/a
16	chr15:72490448-72490498	AG04450	lung:	fetal
17	chr15:72490448-72490498	PrEC	prostate:	n/a
18	chr15:72490448-72490498	A549	lung:	n/a
19	chr15:72490448-72490498	GM19239	blood:	n/a
20	chr15:72490448-72490498	HCT-116	colon:	n/a
21	chr15:72490448-72490498	HepG2	liver:	n/a
22	chr15:72490448-72490498	MCF-7	breast:	n/a
23	chr15:72490448-72490498	AG09319	gingival:	n/a
24	chr15:72490448-72490498	SK-N-MC	brain:	n/a
25	chr15:72490448-72490498	HCM	heart:	n/a
26	chr15:72490448-72490498	NHDF-neo	bronchial:	n/a
27	chr15:72490448-72490498	HRPEpiC	eye:	n/a
28	chr15:72490448-72490498	H1-hESC	embryonic stem cell:	embryo
29	chr15:72490448-72490498	AG10803	skin:	n/a
30	chr15:72490448-72490498	SAEC	small airway:	n/a
31	chr15:72490448-72490498	PANC-1	pancreas:	n/a
32	chr15:72490448-72490498	HPAEpiC	pulmonary alveolar:	n/a
33	chr15:72490448-72490498	HL-60	blood:	n/a
34	chr15:72490448-72490498	HCF	heart:	n/a
35	chr15:72490448-72490498	LNCaP	prostate:	n/a
36	chr15:72490448-72490498	AoSMC	blood vessel:	n/a
37	chr15:72490448-72490498	AG09309	skin:	n/a
38	chr15:72490448-72490498	ProgFib	skin:	n/a
39	chr15:72490448-72490498	HRCEpiC	kidney:	n/a
40	chr15:72490448-72490498	HNPCEpiC	eye:	n/a
41	chr15:72490448-72490498	HEEpiC	esophagus:	n/a
42	chr15:72490448-72490498	HAEpiC	amniotic membrane:	n/a
43	chr15:72490448-72490498	SK-N-SH	brain:	n/a
44	chr15:72490448-72490498	NH-A	brain:	n/a
45	chr15:72490448-72490498	GM12892	blood:	n/a
46	chr15:72490448-72490498	AG04449	skin:	fetal
47	chr15:72490448-72490498	U87	brain:	n/a
48	chr15:72490448-72490498	Hela-S3	cervix:	n/a
49	chr15:72490448-72490498	BE2_C	brain:	n/a
50	chr15:72490448-72490498	Jurkat	blood:	n/a

(count:5 , 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:
5	chr15:72487407..72489902-chr15:72490450..72492521,2	K562	blood:

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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72487600-72493600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:72488000-72491000	Weak transcription	K562	blood
3	chr15:72488800-72490600	Weak transcription	Dnd41	blood
4	chr15:72489000-72490600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr15:72489000-72490600	Flanking Active TSS	HMEC	breast
6	chr15:72489000-72490800	Active TSS	H9 Cell Line	embryonic stem cell
7	chr15:72489000-72491000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr15:72489200-72490600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr15:72489200-72490600	Enhancers	Fetal Heart	heart
10	chr15:72489200-72491600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr15:72489400-72490600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
12	chr15:72489400-72490600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr15:72489400-72490600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr15:72489400-72490800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr15:72489600-72490600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:72489600-72490600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr15:72489600-72490600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
18	chr15:72489600-72490600	Active TSS	Brain Hippocampus Middle	brain
19	chr15:72489600-72491000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
20	chr15:72489800-72490600	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr15:72489800-72490800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr15:72489800-72490800	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr15:72489800-72490800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr15:72489800-72490800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:72489800-72490800	Weak transcription	NHDF-Ad	bronchial
26	chr15:72489800-72491000	Weak transcription	Brain Angular Gyrus	brain
27	chr15:72489800-72491000	Enhancers	Placenta	Placenta
28	chr15:72489800-72491600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr15:72489800-72491600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr15:72489800-72491800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr15:72490000-72490600	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr15:72490000-72490600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr15:72490000-72490600	Weak transcription	Primary B cells from cord blood	blood
34	chr15:72490000-72490600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr15:72490000-72490600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr15:72490000-72490600	Weak transcription	Spleen	Spleen
37	chr15:72490000-72490800	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr15:72490000-72490800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr15:72490000-72490800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr15:72490000-72490800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr15:72490000-72490800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr15:72490000-72491000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr15:72490000-72491000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr15:72490000-72491200	Weak transcription	Colon Smooth Muscle	Colon
45	chr15:72490000-72491200	Bivalent Enhancer	Fetal Muscle Leg	muscle
46	chr15:72490000-72491400	Weak transcription	Brain Substantia Nigra	brain
47	chr15:72490000-72501800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr15:72490000-72507600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr15:72490200-72490600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr15:72490200-72490600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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