Variant report

Variant	rs2765552
Chromosome Location	chr1:10458766-10458767
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	TCF12	chr1:10458702-10459050	GM12878	blood:	n/a	n/a
2	ELF1	chr1:10458699-10459196	MCF-7	breast:	n/a	n/a
3	E2F4	chr1:10458399-10459698	K562	blood:	n/a	chr1:10459052-10459061 chr1:10459220-10459229 chr1:10459424-10459433
4	POLR2A	chr1:10458690-10459738	HEK293	kidney:	n/a	n/a
5	YY1	chr1:10458459-10459736	K562	blood:	n/a	chr1:10459421-10459435 chr1:10459510-10459524 chr1:10459357-10459371 chr1:10458550-10458564 chr1:10459198-10459209 chr1:10459500-10459511 chr1:10459351-10459365 chr1:10459533-10459547
6	MAX	chr1:10458509-10460111	MCF-7	breast:	n/a	chr1:10458888-10458897 chr1:10458813-10458822 chr1:10459494-10459504
7	MYC	chr1:10458595-10458989	MCF-7	breast:	n/a	chr1:10458888-10458897 chr1:10458813-10458822
8	EP300	chr1:10458755-10459322	GM12878	blood:	n/a	chr1:10459058-10459067
9	TEAD4	chr1:10458419-10459208	H1-hESC	embryonic stem cell:	n/a	n/a
10	NR2F2	chr1:10458563-10459706	MCF-7	breast:	n/a	n/a
11	POLR2A	chr1:10458691-10459593	HCT-116	colon:	n/a	n/a
12	SP1	chr1:10458603-10459411	H1-hESC	embryonic stem cell:	n/a	chr1:10459392-10459401 chr1:10459033-10459044 chr1:10459034-10459048 chr1:10459390-10459402 chr1:10459395-10459407 chr1:10459391-10459401 chr1:10458890-10458902 chr1:10458966-10458977 chr1:10459357-10459369 chr1:10459390-10459402 chr1:10459391-10459400 chr1:10459365-10459379 chr1:10459397-10459406 chr1:10459033-10459045 chr1:10459392-10459401 chr1:10459395-10459407 chr1:10459041-10459062 chr1:10458891-10458900 chr1:10459357-10459369
13	HEY1	chr1:10458610-10459470	HepG2	liver:	n/a	n/a
14	SP1	chr1:10458480-10459979	HCT-116	colon:	n/a	chr1:10459392-10459401 chr1:10459033-10459044 chr1:10459034-10459048 chr1:10459390-10459402 chr1:10459395-10459407 chr1:10459493-10459505 chr1:10459391-10459401 chr1:10458890-10458902 chr1:10458966-10458977 chr1:10459357-10459369 chr1:10459390-10459402 chr1:10459493-10459505 chr1:10459391-10459400 chr1:10459365-10459379 chr1:10459397-10459406 chr1:10459033-10459045 chr1:10459494-10459503 chr1:10459392-10459401 chr1:10459395-10459407 chr1:10459495-10459504 chr1:10459494-10459504 chr1:10459041-10459062 chr1:10458891-10458900 chr1:10459357-10459369
15	ZEB1	chr1:10458529-10459089	GM12878	blood:	n/a	n/a
16	SIN3AK20	chr1:10458561-10459310	A549	lung:	n/a	n/a
17	TAF1	chr1:10458514-10459426	H1-hESC	embryonic stem cell:	n/a	n/a
18	SRF	chr1:10458741-10459124	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAFK	chr1:10458761-10459175	HepG2	liver:	n/a	n/a
20	POLR2A	chr1:10458684-10459368	K562	blood:	n/a	n/a
21	NFYA	chr1:10458764-10459352	K562	blood:	n/a	chr1:10459044-10459062 chr1:10459049-10459063
22	POLR2A	chr1:10458446-10460055	A549	lung:	n/a	n/a
23	POLR2A	chr1:10458737-10459371	HUVEC	blood vessel:	n/a	n/a
24	EGR1	chr1:10458637-10459112	H1-hESC	embryonic stem cell:	n/a	chr1:10458886-10458899 chr1:10458886-10458899 chr1:10458887-10458898 chr1:10458888-10458898 chr1:10458887-10458901 chr1:10458889-10458898 chr1:10458888-10458898 chr1:10458886-10458899 chr1:10458886-10458900 chr1:10458966-10458976 chr1:10458886-10458899 chr1:10458962-10458975 chr1:10458885-10458900
25	EGR1	chr1:10458644-10459236	H1-hESC	embryonic stem cell:	n/a	chr1:10458886-10458899 chr1:10458886-10458899 chr1:10458887-10458898 chr1:10458888-10458898 chr1:10458887-10458901 chr1:10458889-10458898 chr1:10458888-10458898 chr1:10458886-10458899 chr1:10458886-10458900 chr1:10458966-10458976 chr1:10458886-10458899 chr1:10458962-10458975 chr1:10458885-10458900
26	EP300	chr1:10458735-10459209	GM12878	blood:	n/a	chr1:10459058-10459067
27	POLR2A	chr1:10458419-10460450	HepG2	liver:	n/a	n/a
28	YY1	chr1:10458539-10459366	GM12891	blood:	n/a	chr1:10458550-10458564 chr1:10459198-10459209 chr1:10459351-10459365
29	ZNF384	chr1:10458606-10459378	K562	blood:	n/a	n/a
30	POLR2A	chr1:10458489-10460086	Hela-S3	cervix:	n/a	n/a
31	EP300	chr1:10458644-10459522	HepG2	liver:	n/a	chr1:10459058-10459067
32	GATA3	chr1:10458345-10459542	A549	lung:	n/a	n/a
33	ZNF143	chr1:10458481-10459476	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr1:10458462-10459742	H1-hESC	embryonic stem cell:	n/a	n/a
35	HMGN3	chr1:10458487-10459701	K562	blood:	n/a	n/a
36	MYC	chr1:10458510-10459636	H1-hESC	embryonic stem cell:	n/a	chr1:10458888-10458897 chr1:10458813-10458822 chr1:10459494-10459504
37	POLR2A	chr1:10458582-10459852	Hela-S3	cervix:	n/a	n/a
38	TAF1	chr1:10458644-10459418	MCF-7	breast:	n/a	n/a
39	E2F6	chr1:10458470-10459686	H1-hESC	embryonic stem cell:	n/a	chr1:10459052-10459061 chr1:10459220-10459229 chr1:10459424-10459433
40	THAP1	chr1:10458465-10459424	K562	blood:	n/a	n/a
41	CHD2	chr1:10458648-10459256	K562	blood:	n/a	n/a
42	SRF	chr1:10458733-10459101	K562	blood:	n/a	n/a
43	BCL3	chr1:10458618-10459429	A549	lung:	n/a	n/a
44	ELF1	chr1:10458491-10459465	GM12878	blood:	n/a	n/a
45	YY1	chr1:10458605-10459552	ECC-1	luminal epithelium:	n/a	chr1:10459421-10459435 chr1:10459510-10459524 chr1:10459357-10459371 chr1:10459198-10459209 chr1:10459500-10459511 chr1:10459351-10459365 chr1:10459533-10459547
46	POLR2A	chr1:10458428-10459536	PFSK-1	brain:	n/a	n/a
47	SP2	chr1:10458751-10459224	K562	blood:	n/a	chr1:10458996-10459019 chr1:10459033-10459048 chr1:10459050-10459060
48	NR2F2	chr1:10458682-10459098	K562	blood:	n/a	n/a
49	RCOR1	chr1:10458404-10459272	GM12878	blood:	n/a	n/a
50	EGR1	chr1:10458580-10459267	ECC-1	luminal epithelium:	n/a	chr1:10458886-10458899 chr1:10458886-10458899 chr1:10458887-10458898 chr1:10458888-10458898 chr1:10458887-10458901 chr1:10458889-10458898 chr1:10458888-10458898 chr1:10458886-10458899 chr1:10458886-10458900 chr1:10458966-10458976 chr1:10458886-10458899 chr1:10458962-10458975 chr1:10458885-10458900

No.	Distal block	Cell Line	Cell type
1	chr1:10457879..10460190-chr8:103875742..103877594,2	MCF-7	breast:
2	chr1:10457490..10461716-chr1:10469511..10473951,6	K562	blood:
3	chr1:10447111..10452516-chr1:10455817..10460024,9	K562	blood:
4	chr1:10457843..10460253-chr1:10533493..10537083,3	MCF-7	breast:
5	chr1:10456887..10459867-chr1:10534957..10536960,2	K562	blood:
6	chr1:10446399..10450088-chr1:10457513..10461303,7	MCF-7	breast:
7	chr1:10457403..10461622-chr1:10531171..10536559,7	K562	blood:
8	chr1:10269636..10272138-chr1:10457591..10460138,4	K562	blood:
9	chr1:10458656..10459252-chr5:137089631..137090531,2	Hela-S3	cervix:
10	chr1:10457797..10461098-chr1:10474071..10478087,9	K562	blood:
11	chr1:10446950..10451985-chr1:10457311..10462205,6	K562	blood:
12	chr1:9882661..9885013-chr1:10458252..10460185,2	K562	blood:
13	chr1:10446221..10450110-chr1:10457451..10462205,13	MCF-7	breast:
14	chr1:10457794..10460664-chr1:10487844..10492697,5	K562	blood:
15	chr1:10457794..10461321-chr1:10487053..10491931,7	K562	blood:

Variant related genes	Relation type
PGD	TF binding region
ENSG00000175279	Chromatin interaction
ENSG00000142657	Chromatin interaction
ENSG00000265945	Chromatin interaction
ENSG00000054523	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000142655	Chromatin interaction
ENSG00000271989	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000160049	Chromatin interaction
ENSG00000251503	Chromatin interaction
ENSG00000177733	Chromatin interaction
ENSG00000171603	Chromatin interaction

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

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

rs_ID	r²[population]
rs1300646	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2847342	0.83[AMR][1000 genomes];0.93[EUR][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	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv2764192	chr1:10383734-10594186	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv8213	chr1:10450914-10460439	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10457000-10458800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr1:10457600-10459600	Active TSS	A549	lung
3	chr1:10458000-10458800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr1:10458000-10460200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:10458000-10460200	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr1:10458200-10458800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
7	chr1:10458200-10458800	Flanking Active TSS	Primary B cells from peripheral blood	blood
8	chr1:10458200-10458800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
9	chr1:10458200-10458800	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr1:10458200-10458800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr1:10458200-10458800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr1:10458200-10458800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr1:10458200-10458800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr1:10458200-10458800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:10458200-10458800	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr1:10458200-10458800	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr1:10458200-10458800	Active TSS	Fetal Heart	heart
18	chr1:10458200-10458800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr1:10458200-10458800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr1:10458200-10458800	Flanking Active TSS	NHEK	skin
21	chr1:10458200-10459000	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr1:10458200-10459000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:10458200-10459000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr1:10458200-10459200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:10458200-10459600	Active TSS	Primary T cells from cord blood	blood
26	chr1:10458200-10459600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr1:10458200-10459600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr1:10458200-10459600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:10458200-10459600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:10458200-10459600	Active TSS	Fetal Thymus	thymus
31	chr1:10458200-10459600	Active TSS	Right Ventricle	heart
32	chr1:10458200-10459800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:10458200-10459800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:10458200-10459800	Active TSS	Brain Angular Gyrus	brain
35	chr1:10458200-10459800	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr1:10458200-10459800	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr1:10458200-10459800	Active TSS	Fetal Brain Female	brain
38	chr1:10458200-10459800	Active TSS	Fetal Intestine Large	intestine
39	chr1:10458200-10459800	Active TSS	Fetal Intestine Small	intestine
40	chr1:10458200-10459800	Active TSS	Fetal Stomach	stomach
41	chr1:10458200-10459800	Active TSS	GM12878-XiMat	blood
42	chr1:10458200-10460000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:10458200-10460000	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr1:10458200-10460000	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr1:10458200-10460000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:10458200-10460000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:10458200-10460000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:10458200-10460000	Active TSS	Esophagus	oesophagus
49	chr1:10458200-10460000	Active TSS	Fetal Kidney	kidney
50	chr1:10458200-10460000	Active TSS	Fetal Lung	lung

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