Variant report

Variant	rs7586063
Chromosome Location	chr2:47572727-47572728
allele	C/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	TAF1	chr2:47571967-47572962	H1-hESC	embryonic stem cell:	n/a	n/a
4	FOSL2	chr2:47571800-47572970	A549	lung:	n/a	chr2:47572397-47572406
5	MXI1	chr2:47571245-47574117	SK-N-SH	brain:	n/a	chr2:47572238-47572247
6	HEY1	chr2:47571936-47572958	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:47571916-47573160	HepG2	liver:	n/a	n/a
8	POLR2A	chr2:47571800-47573012	HUVEC	blood vessel:	n/a	n/a
9	ATF2	chr2:47571885-47573110	H1-hESC	embryonic stem cell:	n/a	n/a
10	TCF12	chr2:47572057-47572740	A549	lung:	n/a	n/a
11	POLR2A	chr2:47572122-47573052	HCT-116	colon:	n/a	n/a
12	YY1	chr2:47572057-47572770	HepG2	liver:	n/a	chr2:47572635-47572645 chr2:47572541-47572552
13	USF1	chr2:47571762-47573027	A549	lung:	n/a	n/a
14	REST	chr2:47572031-47572824	SK-N-SH	brain:	n/a	n/a
15	REST	chr2:47572414-47572932	MCF-7	breast:	n/a	n/a
16	SIN3AK20	chr2:47572353-47572741	H1-hESC	embryonic stem cell:	n/a	n/a
17	HEY1	chr2:47571847-47572897	HepG2	liver:	n/a	n/a
18	YY1	chr2:47572381-47573023	HepG2	liver:	n/a	chr2:47572635-47572645 chr2:47572541-47572552
19	GTF2F1	chr2:47572027-47573258	H1-hESC	embryonic stem cell:	n/a	n/a
20	MYBL2	chr2:47571809-47573368	HepG2	liver:	n/a	n/a
21	TAF1	chr2:47571978-47572731	A549	lung:	n/a	n/a
22	POLR2A	chr2:47572051-47572881	MCF-7	breast:	n/a	n/a
23	CHD2	chr2:47572051-47573394	H1-hESC	embryonic stem cell:	n/a	n/a
24	REST	chr2:47572429-47572904	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr2:47571906-47572855	HepG2	liver:	n/a	n/a
26	FOXA2	chr2:47571980-47572758	A549	lung:	n/a	n/a
27	POLR2A	chr2:47572025-47572841	HepG2	liver:	n/a	n/a
28	HDAC2	chr2:47571989-47572936	HepG2	liver:	n/a	n/a
29	MAX	chr2:47571768-47573092	HepG2	liver:	n/a	chr2:47572235-47572248 chr2:47572236-47572247 chr2:47572237-47572246 chr2:47572233-47572248 chr2:47572235-47572248
30	YY1	chr2:47571885-47573057	SK-N-SH_RA	brain:	n/a	chr2:47572635-47572645 chr2:47572541-47572552
31	SP1	chr2:47571996-47572983	HepG2	liver:	n/a	chr2:47572587-47572600
32	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
33	USF1	chr2:47571888-47572898	SK-N-SH	brain:	n/a	n/a
34	YY1	chr2:47571987-47573096	SK-N-SH_RA	brain:	n/a	chr2:47572635-47572645 chr2:47572541-47572552
35	POLR2A	chr2:47571962-47573242	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr2:47571959-47573039	HepG2	liver:	n/a	n/a
37	MAX	chr2:47571950-47572965	H1-hESC	embryonic stem cell:	n/a	chr2:47572235-47572248 chr2:47572236-47572247 chr2:47572237-47572246 chr2:47572233-47572248 chr2:47572235-47572248
38	RAD21	chr2:47572110-47572828	H1-hESC	embryonic stem cell:	n/a	chr2:47572261-47572274
39	POLR2A	chr2:47571976-47572779	HepG2	liver:	n/a	n/a
40	NFIC	chr2:47571952-47572871	HepG2	liver:	n/a	n/a
41	EP300	chr2:47571853-47573097	A549	lung:	n/a	chr2:47572591-47572605
42	ZNF263	chr2:47571826-47572862	HEK293-T-REx	kidney:	n/a	chr2:47572287-47572296
43	MYC	chr2:47571928-47572948	H1-hESC	embryonic stem cell:	n/a	chr2:47572235-47572248 chr2:47572236-47572247 chr2:47572237-47572246 chr2:47572233-47572248 chr2:47572235-47572248
44	REST	chr2:47572352-47572919	ECC-1	luminal epithelium:	n/a	n/a
45	SP1	chr2:47571862-47572908	A549	lung:	n/a	chr2:47572587-47572600
46	REST	chr2:47571653-47573580	H1-neurons	neurons:	n/a	n/a
47	TCF12	chr2:47571660-47573092	A549	lung:	n/a	n/a
48	REST	chr2:47571971-47572987	SK-N-SH	brain:	n/a	n/a
49	TCF7L2	chr2:47572170-47572871	HepG2	liver:	n/a	chr2:47572378-47572392 chr2:47572760-47572776 chr2:47572378-47572392 chr2:47572377-47572393 chr2:47572764-47572773 chr2:47572760-47572776 chr2:47572761-47572775
50	YY1	chr2:47571954-47573020	H1-hESC	embryonic stem cell:	n/a	chr2:47572635-47572645 chr2:47572541-47572552

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	chr2:47570861..47572963-chr2:47596345..47598113,2	K562	blood:
6	chr2:47571726..47575826-chr2:47629274..47632481,3	MCF-7	breast:
7	chr2:47572404..47574648-chr2:47580578..47582565,2	K562	blood:

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

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17036526	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4608576	0.88[AFR][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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47569800-47572800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:47570600-47572800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:47570600-47573600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:47570800-47572800	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr2:47570800-47572800	Active TSS	Fetal Intestine Large	intestine
6	chr2:47570800-47572800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr2:47571000-47572800	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr2:47571200-47572800	Active TSS	Ovary	ovary
9	chr2:47571200-47573000	Active TSS	Fetal Lung	lung
10	chr2:47571200-47573400	Active TSS	H9 Cell Line	embryonic stem cell
11	chr2:47571400-47572800	Active TSS	Brain Angular Gyrus	brain
12	chr2:47571400-47572800	Active TSS	Right Ventricle	heart
13	chr2:47571400-47572800	Enhancers	Hela-S3	cervix
14	chr2:47571400-47573000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:47571400-47573000	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr2:47571400-47573200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr2:47571600-47573000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:47571800-47572800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:47571800-47573000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:47572000-47572800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:47572000-47572800	Flanking Active TSS	Colon Smooth Muscle	Colon
22	chr2:47572000-47572800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr2:47572000-47572800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr2:47572000-47572800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
25	chr2:47572000-47573000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:47572000-47573000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
27	chr2:47572000-47573000	Active TSS	Fetal Heart	heart
28	chr2:47572000-47573000	Flanking Active TSS	K562	blood
29	chr2:47572000-47573200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr2:47572000-47573200	Flanking Active TSS	HUVEC	blood vessel
31	chr2:47572000-47573200	Flanking Active TSS	NH-A	brain
32	chr2:47572000-47573400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:47572200-47572800	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr2:47572200-47572800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr2:47572200-47572800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:47572200-47573000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:47572200-47573000	Flanking Active TSS	Fetal Stomach	stomach
38	chr2:47572200-47573000	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr2:47572200-47573000	Enhancers	Spleen	Spleen
40	chr2:47572200-47573800	Enhancers	Placenta Amnion	Placenta Amnion
41	chr2:47572400-47572800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:47572400-47572800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:47572400-47572800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:47572400-47572800	Flanking Active TSS	Right Atrium	heart
45	chr2:47572400-47572800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:47572400-47572800	Flanking Active TSS	NHLF	lung
47	chr2:47572400-47573000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:47572400-47573000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
49	chr2:47572400-47573000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr2:47572400-47573000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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