Variant report

Variant	rs72882725
Chromosome Location	chr2:47572979-47572980
allele	A/G
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	JUND	chr2:47571913-47573800	H1-hESC	embryonic stem cell:	n/a	chr2:47572397-47572406 chr2:47573211-47573222
2	POLR2A	chr2:47571948-47573102	HUVEC	blood vessel:	n/a	n/a
3	MXI1	chr2:47571245-47574117	SK-N-SH	brain:	n/a	chr2:47572238-47572247
4	ARID3A	chr2:47571916-47573160	HepG2	liver:	n/a	n/a
5	POLR2A	chr2:47571800-47573012	HUVEC	blood vessel:	n/a	n/a
6	ATF2	chr2:47571885-47573110	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr2:47572122-47573052	HCT-116	colon:	n/a	n/a
8	USF1	chr2:47571762-47573027	A549	lung:	n/a	n/a
9	YY1	chr2:47572381-47573023	HepG2	liver:	n/a	chr2:47572635-47572645 chr2:47572541-47572552
10	GTF2F1	chr2:47572027-47573258	H1-hESC	embryonic stem cell:	n/a	n/a
11	MYBL2	chr2:47571809-47573368	HepG2	liver:	n/a	n/a
12	CHD2	chr2:47572051-47573394	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr2:47571768-47573092	HepG2	liver:	n/a	chr2:47572235-47572248 chr2:47572236-47572247 chr2:47572237-47572246 chr2:47572233-47572248 chr2:47572235-47572248
14	YY1	chr2:47571885-47573057	SK-N-SH_RA	brain:	n/a	chr2:47572635-47572645 chr2:47572541-47572552
15	SP1	chr2:47571996-47572983	HepG2	liver:	n/a	chr2:47572587-47572600
16	MAX	chr2:47571765-47573068	SK-N-SH	brain:	n/a	chr2:47572235-47572248 chr2:47572236-47572247 chr2:47572237-47572246 chr2:47572233-47572248 chr2:47572235-47572248
17	YY1	chr2:47571987-47573096	SK-N-SH_RA	brain:	n/a	chr2:47572635-47572645 chr2:47572541-47572552
18	POLR2A	chr2:47571962-47573242	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr2:47571959-47573039	HepG2	liver:	n/a	n/a
20	EP300	chr2:47571853-47573097	A549	lung:	n/a	chr2:47572591-47572605
21	REST	chr2:47571653-47573580	H1-neurons	neurons:	n/a	n/a
22	TCF12	chr2:47571660-47573092	A549	lung:	n/a	n/a
23	REST	chr2:47571971-47572987	SK-N-SH	brain:	n/a	n/a
24	YY1	chr2:47571954-47573020	H1-hESC	embryonic stem cell:	n/a	chr2:47572635-47572645 chr2:47572541-47572552
25	SIN3A	chr2:47572006-47573261	H1-hESC	embryonic stem cell:	n/a	chr2:47572238-47572247 chr2:47572236-47572245
26	TCF7L2	chr2:47572054-47573014	HEK293	kidney:	n/a	chr2:47572378-47572392 chr2:47572760-47572776 chr2:47572378-47572392 chr2:47572377-47572393 chr2:47572764-47572773 chr2:47572760-47572776 chr2:47572761-47572775
27	MAX	chr2:47571886-47573039	MCF-7	breast:	n/a	chr2:47572235-47572248 chr2:47572236-47572247 chr2:47572237-47572246 chr2:47572233-47572248 chr2:47572235-47572248
28	POLR2A	chr2:47571922-47573046	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr2:47571289-47573788	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAX	chr2:47571833-47572997	SK-N-SH	brain:	n/a	chr2:47572235-47572248 chr2:47572236-47572247 chr2:47572237-47572246 chr2:47572233-47572248 chr2:47572235-47572248
31	KAP1	chr2:47571930-47573112	U2OS	brain:	n/a	n/a
32	YY1	chr2:47571745-47573125	SK-N-SH	brain:	n/a	chr2:47572635-47572645 chr2:47572541-47572552
33	POLR2A	chr2:47571670-47573143	SK-N-SH	brain:	n/a	n/a
34	REST	chr2:47571755-47573262	A549	lung:	n/a	n/a
35	POLR2A	chr2:47571931-47573001	HepG2	liver:	n/a	n/a
36	YY1	chr2:47571312-47573298	SK-N-SH	brain:	n/a	chr2:47573275-47573285 chr2:47573270-47573286 chr2:47572635-47572645 chr2:47572541-47572552
37	MAX	chr2:47571705-47573106	A549	lung:	n/a	chr2:47572235-47572248 chr2:47572236-47572247 chr2:47572237-47572246 chr2:47572233-47572248 chr2:47572235-47572248
38	POLR2A	chr2:47571915-47572979	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD1	chr2:47571845-47573551	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr2:47572840-47572990	HPF	lung:	n/a	n/a
41	POLR2A	chr2:47571924-47573101	H1-neurons	neurons:	n/a	n/a
42	SP4	chr2:47572115-47573274	H1-hESC	embryonic stem cell:	n/a	n/a
43	TBP	chr2:47571966-47573047	HepG2	liver:	n/a	n/a
44	SIN3AK20	chr2:47571798-47572986	MCF-7	breast:	n/a	n/a
45	YY1	chr2:47572060-47573021	H1-hESC	embryonic stem cell:	n/a	chr2:47572635-47572645 chr2:47572541-47572552
46	POLR2A	chr2:47571907-47573245	SK-N-SH	brain:	n/a	n/a
47	SP1	chr2:47571764-47573067	A549	lung:	n/a	chr2:47572587-47572600
48	POLR2A	chr2:47571963-47573027	HUVEC	blood vessel:	n/a	n/a
49	ZEB1	chr2:47571851-47573047	HepG2	liver:	n/a	chr2:47572465-47572476
50	EP300	chr2:47572962-47573078	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:47572939-47572989	HL-60	blood:	n/a
2	chr2:47572939-47572989	GM12878	blood:	n/a
3	chr2:47572939-47572989	HCT-116	colon:	n/a
4	chr2:47572939-47572989	AG09319	gingival:	n/a
5	chr2:47572939-47572989	BJ	skin:	n/a
6	chr2:47572939-47572989	PANC-1	pancreas:	n/a
7	chr2:47572939-47572989	MCF-7	breast:	n/a
8	chr2:47572939-47572989	PFSK-1	brain:	n/a
9	chr2:47572939-47572989	HNPCEpiC	eye:	n/a
10	chr2:47572939-47572989	GM06990	blood:	n/a
11	chr2:47572939-47572989	ProgFib	skin:	n/a
12	chr2:47572939-47572989	K562	blood:	n/a
13	chr2:47572939-47572989	HEEpiC	esophagus:	n/a
14	chr2:47572939-47572989	NHBE	bronchial:	n/a
15	chr2:47572939-47572989	NB4	blood:	n/a
16	chr2:47572939-47572989	GM19239	blood:	n/a
17	chr2:47572939-47572989	LNCaP	prostate:	n/a
18	chr2:47572939-47572989	T-47D	breast:	n/a
19	chr2:47572939-47572989	HCPEpiC	choroid plexus:	n/a
20	chr2:47572939-47572989	HRCEpiC	kidney:	n/a
21	chr2:47572939-47572989	HPAEpiC	pulmonary alveolar:	n/a
22	chr2:47572939-47572989	H1-hESC	embryonic stem cell:	embryo
23	chr2:47572939-47572989	HAEpiC	amniotic membrane:	n/a
24	chr2:47572939-47572989	AG10803	skin:	n/a
25	chr2:47572939-47572989	SK-N-MC	brain:	n/a
26	chr2:47572939-47572989	NHDF-neo	bronchial:	n/a
27	chr2:47572939-47572989	GM12892	blood:	n/a
28	chr2:47572939-47572989	HCF	heart:	n/a
29	chr2:47572939-47572989	SK-N-SH	brain:	n/a
30	chr2:47572939-47572989	PrEC	prostate:	n/a
31	chr2:47572939-47572989	Hepatocyte	liver:	n/a
32	chr2:47572939-47572989	HEK293	kidney:	embryo
33	chr2:47572939-47572989	HRPEpiC	eye:	n/a
34	chr2:47572939-47572989	HUVEC	blood vessel:	n/a
35	chr2:47572939-47572989	Caco-2	colon:	n/a
36	chr2:47572939-47572989	SKMC	muscle:	n/a
37	chr2:47572939-47572989	AG04450	lung:	fetal
38	chr2:47572939-47572989	HIPEpiC	eye:	n/a
39	chr2:47572939-47572989	NH-A	brain:	n/a
40	chr2:47572939-47572989	IMR90	lung:	fetal
41	chr2:47572939-47572989	Jurkat	blood:	n/a
42	chr2:47572939-47572989	A549	lung:	n/a
43	chr2:47572939-47572989	HepG2	liver:	n/a
44	chr2:47572939-47572989	ovcar-3	ovarian:	n/a
45	chr2:47572939-47572989	BE2_C	brain:	n/a
46	chr2:47572939-47572989	SAEC	small airway:	n/a
47	chr2:47572939-47572989	AG04449	skin:	fetal
48	chr2:47572939-47572989	NT2-D1	testis:	n/a
49	chr2:47572939-47572989	U87	brain:	n/a
50	chr2:47572939-47572989	HRE	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:47559485..47574826-chr2:47594341..47605593,65	MCF-7	breast:
2	chr2:47572455..47576210-chr2:47579950..47583460,6	K562	blood:
3	chr2:47560518..47577182-chr2:47592669..47600258,43	MCF-7	breast:
4	chr2:47570416..47573787-chr2:47628581..47633320,5	MCF-7	breast:
5	chr2:47571726..47575826-chr2:47629274..47632481,3	MCF-7	breast:
6	chr2:47572404..47574648-chr2:47580578..47582565,2	K562	blood:

Variant related genes	Relation type
ENSG00000234690	TF binding region
ENSG00000234690	CpG island
ENSG00000119888	Chromatin interaction
ENSG00000095002	Chromatin interaction
ENSG00000207923	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs17036586	1.00[AMR][1000 genomes]
rs17036616	1.00[AMR][1000 genomes]
rs17217849	1.00[AMR][1000 genomes]
rs17217961	1.00[AMR][1000 genomes]
rs17218648	1.00[AMR][1000 genomes]
rs17224122	1.00[AMR][1000 genomes]
rs17224724	1.00[AMR][1000 genomes]
rs17224738	1.00[AMR][1000 genomes]
rs17224815	1.00[AMR][1000 genomes]
rs1800151	1.00[AMR][1000 genomes]
rs55815447	1.00[AMR][1000 genomes]
rs55905016	1.00[AMR][1000 genomes]
rs56076616	1.00[AMR][1000 genomes]
rs56958162	1.00[AMR][1000 genomes]
rs57972954	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58012164	1.00[AMR][1000 genomes]
rs58080795	1.00[AMR][1000 genomes]
rs58930161	1.00[AMR][1000 genomes]
rs59974084	1.00[AMR][1000 genomes]
rs60512750	1.00[AMR][1000 genomes]
rs61282650	1.00[AMR][1000 genomes]
rs61635665	1.00[AMR][1000 genomes]
rs72882752	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72882765	1.00[AMR][1000 genomes]
rs72882783	1.00[AMR][1000 genomes]
rs72882786	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72882796	1.00[AMR][1000 genomes]
rs72882802	1.00[AMR][1000 genomes]
rs72884625	1.00[AMR][1000 genomes]
rs72884632	1.00[AMR][1000 genomes]
rs72884676	1.00[AMR][1000 genomes]
rs72886304	1.00[AMR][1000 genomes]
rs72886358	1.00[AMR][1000 genomes]
rs72888237	1.00[AMR][1000 genomes]
rs72888238	1.00[AMR][1000 genomes]
rs72888263	1.00[AMR][1000 genomes]
rs73927801	1.00[AMR][1000 genomes]
rs73927802	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv524003	chr2:47543245-47590034	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv581756	chr2:47552706-47590930	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1009586	chr2:47552706-47621487	Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47570600-47573600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:47571200-47573000	Active TSS	Fetal Lung	lung
3	chr2:47571200-47573400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr2:47571400-47573000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:47571400-47573000	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr2:47571400-47573200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr2:47571600-47573000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:47571800-47573000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:47572000-47573000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:47572000-47573000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr2:47572000-47573000	Active TSS	Fetal Heart	heart
12	chr2:47572000-47573000	Flanking Active TSS	K562	blood
13	chr2:47572000-47573200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
14	chr2:47572000-47573200	Flanking Active TSS	HUVEC	blood vessel
15	chr2:47572000-47573200	Flanking Active TSS	NH-A	brain
16	chr2:47572000-47573400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:47572200-47573000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:47572200-47573000	Flanking Active TSS	Fetal Stomach	stomach
19	chr2:47572200-47573000	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr2:47572200-47573000	Enhancers	Spleen	Spleen
21	chr2:47572200-47573800	Enhancers	Placenta Amnion	Placenta Amnion
22	chr2:47572400-47573000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:47572400-47573000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
24	chr2:47572400-47573000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr2:47572400-47573000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:47572400-47573000	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr2:47572400-47573000	Flanking Active TSS	Brain Substantia Nigra	brain
28	chr2:47572400-47573000	Active TSS	Rectal Smooth Muscle	rectum
29	chr2:47572400-47573200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
30	chr2:47572400-47573200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:47572400-47573200	Flanking Active TSS	Fetal Brain Male	brain
32	chr2:47572400-47573200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr2:47572400-47573400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr2:47572400-47573800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr2:47572600-47573000	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:47572600-47573000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:47572600-47573000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
38	chr2:47572600-47573000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr2:47572600-47573000	Enhancers	Liver	Liver
40	chr2:47572600-47573000	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr2:47572600-47573000	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr2:47572600-47573000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:47572600-47573000	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr2:47572600-47573000	Active TSS	Fetal Muscle Trunk	muscle
45	chr2:47572600-47573000	Active TSS	Fetal Muscle Leg	muscle
46	chr2:47572600-47573000	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr2:47572600-47573000	Enhancers	Small Intestine	intestine
48	chr2:47572600-47573000	Active TSS	Osteobl	bone
49	chr2:47572600-47573200	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr2:47572600-47573200	Flanking Active TSS	Fetal Kidney	kidney

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