Variant report

Variant	rs568700514
Chromosome Location	chr1:45097540-45097541
allele	C/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	POLR2A	chr1:45097255-45097874	H1-neurons	neurons:	n/a	n/a
2	TAF7	chr1:45097258-45097878	K562	blood:	n/a	n/a
3	ELF1	chr1:45097367-45097743	A549	lung:	n/a	chr1:45097557-45097570 chr1:45097397-45097409 chr1:45097576-45097588
4	CREB1	chr1:45097025-45098290	HepG2	liver:	n/a	n/a
5	BCLAF1	chr1:45097250-45097990	GM12878	blood:	n/a	chr1:45097582-45097591 chr1:45097428-45097441
6	ETS1	chr1:45097463-45097722	A549	lung:	n/a	chr1:45097580-45097591
7	POLR2A	chr1:45096921-45098491	H1-hESC	embryonic stem cell:	n/a	n/a
8	RUNX3	chr1:45097127-45098085	GM12878	blood:	n/a	n/a
9	RUNX3	chr1:45097013-45097825	GM12878	blood:	n/a	n/a
10	NR2F2	chr1:45096374-45097760	K562	blood:	n/a	chr1:45097595-45097610
11	EP300	chr1:45097461-45097828	SK-N-SH_RA	brain:	n/a	chr1:45097575-45097591
12	MXI1	chr1:45097176-45097641	K562	blood:	n/a	n/a
13	MAX	chr1:45097216-45098369	SK-N-SH	brain:	n/a	chr1:45097629-45097638 chr1:45097629-45097638 chr1:45097628-45097637 chr1:45097630-45097639
14	TCF3	chr1:45097307-45097955	GM12878	blood:	n/a	n/a
15	POLR2A	chr1:45097258-45098326	K562	blood:	n/a	n/a
16	TCF7L2	chr1:45097441-45097848	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr1:45097025-45098300	NB4	blood:	n/a	n/a
18	SIN3AK20	chr1:45097120-45098041	MCF-7	breast:	n/a	n/a
19	FOSL2	chr1:45097281-45098111	HepG2	liver:	n/a	n/a
20	POLR2A	chr1:45096860-45098371	GM12878	blood:	n/a	n/a
21	POLR2A	chr1:45096855-45098361	GM12891	blood:	n/a	n/a
22	YY1	chr1:45097440-45097956	HepG2	liver:	n/a	chr1:45097577-45097591 chr1:45097580-45097591 chr1:45097580-45097589 chr1:45097638-45097658
23	YY1	chr1:45097032-45098059	GM12891	blood:	n/a	chr1:45097577-45097591 chr1:45097580-45097591 chr1:45097580-45097589 chr1:45097638-45097658 chr1:45097390-45097404
24	POU2F2	chr1:45097321-45097990	GM12891	blood:	n/a	n/a
25	MAZ	chr1:45097030-45098696	K562	blood:	n/a	chr1:45097629-45097638 chr1:45097629-45097638 chr1:45097628-45097637 chr1:45097630-45097639
26	YY1	chr1:45097485-45097708	A549	lung:	n/a	chr1:45097577-45097591 chr1:45097580-45097591 chr1:45097580-45097589 chr1:45097638-45097658
27	GATA2	chr1:45097090-45098078	SH-SY5Y	brain:	n/a	chr1:45097406-45097415 chr1:45097297-45097306
28	POLR2A	chr1:45097000-45098122	HepG2	liver:	n/a	n/a
29	MYC	chr1:45097093-45098094	A549	lung:	n/a	chr1:45097629-45097638 chr1:45097629-45097638 chr1:45097628-45097637 chr1:45097630-45097639
30	POU2F2	chr1:45097153-45098063	GM12891	blood:	n/a	n/a
31	PAX5	chr1:45097445-45098037	GM12891	blood:	n/a	n/a
32	FOXA1	chr1:45097513-45097707	T-47D	breast:	n/a	n/a
33	POLR2A	chr1:45096740-45098410	GM12891	blood:	n/a	n/a
34	TAF7	chr1:45097277-45098205	H1-hESC	embryonic stem cell:	n/a	n/a
35	EGR1	chr1:45097054-45098313	K562	blood:	n/a	chr1:45097578-45097591 chr1:45097578-45097588 chr1:45097575-45097589 chr1:45097573-45097595 chr1:45097579-45097588 chr1:45097578-45097591
36	POLR2A	chr1:45096794-45098706	K562	blood:	n/a	n/a
37	ZKSCAN1	chr1:45097516-45097665	Hela-S3	cervix:	n/a	n/a
38	YY1	chr1:45097485-45097840	HCT-116	colon:	n/a	chr1:45097577-45097591 chr1:45097580-45097591 chr1:45097580-45097589 chr1:45097638-45097658
39	TAF1	chr1:45097256-45098071	GM12891	blood:	n/a	n/a
40	POLR2A	chr1:45097291-45098159	SK-N-MC	brain:	n/a	n/a
41	YY1	chr1:45097499-45097747	K562	blood:	n/a	chr1:45097577-45097591 chr1:45097580-45097591 chr1:45097580-45097589 chr1:45097638-45097658
42	USF1	chr1:45097428-45097854	A549	lung:	n/a	chr1:45097629-45097638 chr1:45097629-45097638
43	POU2F2	chr1:45097404-45098081	GM12878	blood:	n/a	n/a
44	MAZ	chr1:45096901-45099230	IMR90	lung:	n/a	chr1:45097629-45097638 chr1:45097629-45097638 chr1:45097628-45097637 chr1:45097630-45097639
45	POLR2A	chr1:45097299-45098368	U87	brain:	n/a	n/a
46	POLR2A	chr1:45097140-45098248	A549	lung:	n/a	n/a
47	MAX	chr1:45097015-45098392	HepG2	liver:	n/a	chr1:45097629-45097638 chr1:45097629-45097638 chr1:45097628-45097637 chr1:45097630-45097639
48	POLR2A	chr1:45096944-45098177	K562	blood:	n/a	n/a
49	POLR2A	chr1:45097358-45098286	Gliobla	brain:	n/a	n/a
50	ELF1	chr1:45097174-45097883	MCF-7	breast:	n/a	chr1:45097557-45097570 chr1:45097397-45097409 chr1:45097576-45097588

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:45097499-45097549	AG10803	skin:	n/a
2	chr1:45097499-45097549	HCT-116	colon:	n/a
3	chr1:45097499-45097549	PrEC	prostate:	n/a
4	chr1:45097499-45097549	AG04450	lung:	fetal
5	chr1:45097499-45097549	A549	lung:	n/a
6	chr1:45097499-45097549	HNPCEpiC	eye:	n/a
7	chr1:45097499-45097549	PANC-1	pancreas:	n/a
8	chr1:45097499-45097549	RPTEC	kidney:	n/a
9	chr1:45097499-45097549	ovcar-3	ovarian:	n/a
10	chr1:45097499-45097549	NHBE	bronchial:	n/a
11	chr1:45097499-45097549	GM06990	blood:	n/a
12	chr1:45097499-45097549	SK-N-SH_RA	brain:	n/a
13	chr1:45097499-45097549	HL-60	blood:	n/a
14	chr1:45097499-45097549	LNCaP	prostate:	n/a
15	chr1:45097499-45097549	SKMC	muscle:	n/a
16	chr1:45097499-45097549	GM12892	blood:	n/a
17	chr1:45097499-45097549	SK-N-SH	brain:	n/a
18	chr1:45097499-45097549	H1-hESC	embryonic stem cell:	embryo
19	chr1:45097499-45097549	HAEpiC	amniotic membrane:	n/a
20	chr1:45097499-45097549	IMR90	lung:	fetal
21	chr1:45097499-45097549	SAEC	small airway:	n/a
22	chr1:45097499-45097549	MCF-7	breast:	n/a
23	chr1:45097499-45097549	HMEC	breast:	n/a
24	chr1:45097499-45097549	GM19239	blood:	n/a
25	chr1:45097499-45097549	MCF10A-Er-Src	breast:	n/a
26	chr1:45097499-45097549	PFSK-1	brain:	n/a
27	chr1:45097499-45097549	HRCEpiC	kidney:	n/a
28	chr1:45097499-45097549	ECC-1	luminal epithelium:	n/a
29	chr1:45097499-45097549	SK-N-MC	brain:	n/a
30	chr1:45097499-45097549	HEK293	kidney:	embryo
31	chr1:45097499-45097549	Hepatocyte	liver:	n/a
32	chr1:45097499-45097549	HCM	heart:	n/a
33	chr1:45097499-45097549	AG09309	skin:	n/a
34	chr1:45097499-45097549	HIPEpiC	eye:	n/a
35	chr1:45097499-45097549	BJ	skin:	n/a
36	chr1:45097499-45097549	AG09319	gingival:	n/a
37	chr1:45097499-45097549	GM12878	blood:	n/a
38	chr1:45097499-45097549	NH-A	brain:	n/a
39	chr1:45097499-45097549	HepG2	liver:	n/a
40	chr1:45097499-45097549	HRPEpiC	eye:	n/a
41	chr1:45097499-45097549	AoSMC	blood vessel:	n/a
42	chr1:45097499-45097549	HEEpiC	esophagus:	n/a
43	chr1:45097499-45097549	NB4	blood:	n/a
44	chr1:45097499-45097549	HRE	kidney:	n/a
45	chr1:45097499-45097549	AG04449	skin:	fetal
46	chr1:45097499-45097549	Caco-2	colon:	n/a
47	chr1:45097499-45097549	HPAEpiC	pulmonary alveolar:	n/a
48	chr1:45097499-45097549	ProgFib	skin:	n/a
49	chr1:45097499-45097549	HUVEC	blood vessel:	n/a
50	chr1:45097499-45097549	Jurkat	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:45097094..45097610-chr3:152879896..152880538,2	Hela-S3	cervix:
2	chr1:44818922..44822604-chr1:45096121..45099112,6	K562	blood:
3	chr1:45089432..45094163-chr1:45095736..45099125,6	MCF-7	breast:
4	chr1:44677773..44680547-chr1:45095385..45099072,4	K562	blood:
5	chr1:45097493..45098414-chr6:43543365..43544009,2	HCT-116	colon:
6	chr1:45097084..45097952-chr10:103578351..103578852,2	Hela-S3	cervix:
7	chr1:45077147..45081258-chr1:45096476..45100107,4	MCF-7	breast:
8	chr1:45096767..45097715-chr13:52585858..52586559,2	NB4	blood:
9	chr1:44676967..44680043-chr1:45097059..45099100,3	K562	blood:
10	chr1:45096334..45100885-chr1:45195106..45197628,6	K562	blood:
11	chr1:45097288..45098193-chr12:49110421..49111318,2	HCT-116	colon:
12	chr1:45095169..45100377-chr1:45133934..45142864,15	K562	blood:
13	chr1:45095364..45099259-chr1:45185766..45189852,13	K562	blood:
14	chr1:45096334..45099417-chr1:45195073..45197438,5	K562	blood:
15	chr1:45096184..45099066-chr1:45264568..45266380,3	K562	blood:
16	chr1:44482218..44484038-chr1:45097268..45099139,2	K562	blood:
17	chr1:45086647..45106769-chr1:45179099..45192041,56	K562	blood:
18	chr1:45097355..45098136-chr19:3572542..3573373,2	Hela-S3	cervix:
19	chr1:44440424..44442164-chr1:45096404..45098062,2	K562	blood:
20	chr1:45097395..45098344-chr11:8703634..8704499,2	NB4	blood:
21	chr1:45097189..45098175-chr2:101618808..101619704,2	HCT-116	colon:
22	chr1:44459804..44461997-chr1:45097523..45099408,2	MCF-7	breast:
23	chr1:45096002..45100159-chr1:45110119..45116077,6	MCF-7	breast:
24	chr1:45096122..45099489-chr1:45284877..45287072,3	K562	blood:

Variant related genes	Relation type
RNF220	TF binding region
RNF220	CpG island
ENSG00000124571	Chromatin interaction
ENSG00000117410	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000159214	Chromatin interaction
ENSG00000198408	Chromatin interaction
ENSG00000166441	Chromatin interaction
ENSG00000196517	Chromatin interaction
ENSG00000064961	Chromatin interaction
ENSG00000187147	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000129315	Chromatin interaction
ENSG00000181467	Chromatin interaction
ENSG00000170734	Chromatin interaction
ENSG00000126106	Chromatin interaction
ENSG00000117419	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000173846	Chromatin interaction
ENSG00000178028	Chromatin interaction
ENSG00000226009	Chromatin interaction
ENSG00000198520	Chromatin interaction
ENSG00000253710	Chromatin interaction
ENSG00000071082	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv461395	chr1:44898998-45119965	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
5	nsv546144	chr1:44898998-45119965	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
7	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
8	esv3341980	chr1:45097165-45099063	Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	23 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	chr1:45096800-45097600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
2	chr1:45096800-45097600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr1:45096800-45098200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:45096800-45098400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:45096800-45098400	Active TSS	Fetal Kidney	kidney
6	chr1:45096800-45098400	Active TSS	Rectal Smooth Muscle	rectum
7	chr1:45096800-45099000	Active TSS	A549	lung
8	chr1:45097000-45097600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:45097000-45097600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:45097000-45097600	Flanking Active TSS	Fetal Muscle Trunk	muscle
11	chr1:45097000-45097600	Flanking Active TSS	HMEC	breast
12	chr1:45097000-45097600	Flanking Active TSS	NHEK	skin
13	chr1:45097000-45098200	Active TSS	Primary hematopoietic stem cells	blood
14	chr1:45097000-45098200	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr1:45097000-45098200	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr1:45097000-45098400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr1:45097000-45098400	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr1:45097000-45098400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:45097000-45098400	Active TSS	Left Ventricle	heart
20	chr1:45097000-45098600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:45097000-45098600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:45097000-45098600	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr1:45097200-45097600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:45097200-45097600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr1:45097200-45097600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:45097200-45097600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:45097200-45097600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:45097200-45097600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:45097200-45097600	Flanking Active TSS	NHDF-Ad	bronchial
30	chr1:45097200-45098200	Active TSS	Fetal Brain Female	brain
31	chr1:45097200-45098200	Active TSS	Fetal Stomach	stomach
32	chr1:45097200-45098200	Transcr. at gene 5' and 3'	Right Atrium	heart
33	chr1:45097200-45098200	Active TSS	HepG2	liver
34	chr1:45097200-45098400	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr1:45097200-45098400	Active TSS	Primary T cells from cord blood	blood
36	chr1:45097200-45098400	Active TSS	Colon Smooth Muscle	Colon
37	chr1:45097200-45098400	Active TSS	Fetal Lung	lung
38	chr1:45097200-45098400	Active TSS	Gastric	stomach
39	chr1:45097200-45098400	Active TSS	Ovary	ovary
40	chr1:45097200-45098400	Active TSS	Placenta Amnion	Placenta Amnion
41	chr1:45097200-45098400	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr1:45097200-45098400	Active TSS	Small Intestine	intestine
43	chr1:45097200-45098600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:45097200-45098600	Active TSS	H9 Cell Line	embryonic stem cell
45	chr1:45097200-45098600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:45097200-45098600	Active TSS	Aorta	Aorta
47	chr1:45097200-45098600	Active TSS	Brain Substantia Nigra	brain
48	chr1:45097200-45098600	Active TSS	Pancreas	Pancrea
49	chr1:45097200-45098600	Active TSS	Psoas Muscle	Psoas
50	chr1:45097200-45098800	Active TSS	ES-I3 Cell Line	embryonic stem cell

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