Variant report

Variant	rs369357360
Chromosome Location	chr1:45098074-45098075
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	CREB1	chr1:45097025-45098290	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:45096921-45098491	H1-hESC	embryonic stem cell:	n/a	n/a
3	RUNX3	chr1:45097127-45098085	GM12878	blood:	n/a	n/a
4	MAX	chr1:45097216-45098369	SK-N-SH	brain:	n/a	chr1:45097629-45097638 chr1:45097629-45097638 chr1:45097628-45097637 chr1:45097630-45097639
5	POLR2A	chr1:45097258-45098326	K562	blood:	n/a	n/a
6	POLR2A	chr1:45097025-45098300	NB4	blood:	n/a	n/a
7	FOSL2	chr1:45097281-45098111	HepG2	liver:	n/a	n/a
8	POLR2A	chr1:45096860-45098371	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:45096855-45098361	GM12891	blood:	n/a	n/a
10	MAZ	chr1:45097030-45098696	K562	blood:	n/a	chr1:45097629-45097638 chr1:45097629-45097638 chr1:45097628-45097637 chr1:45097630-45097639
11	GATA2	chr1:45097090-45098078	SH-SY5Y	brain:	n/a	chr1:45097406-45097415 chr1:45097297-45097306
12	POLR2A	chr1:45097000-45098122	HepG2	liver:	n/a	n/a
13	MYC	chr1:45097093-45098094	A549	lung:	n/a	chr1:45097629-45097638 chr1:45097629-45097638 chr1:45097628-45097637 chr1:45097630-45097639
14	POLR2A	chr1:45096740-45098410	GM12891	blood:	n/a	n/a
15	TAF7	chr1:45097277-45098205	H1-hESC	embryonic stem cell:	n/a	n/a
16	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
17	POLR2A	chr1:45096794-45098706	K562	blood:	n/a	n/a
18	POLR2A	chr1:45097291-45098159	SK-N-MC	brain:	n/a	n/a
19	POU2F2	chr1:45097404-45098081	GM12878	blood:	n/a	n/a
20	MAZ	chr1:45096901-45099230	IMR90	lung:	n/a	chr1:45097629-45097638 chr1:45097629-45097638 chr1:45097628-45097637 chr1:45097630-45097639
21	POLR2A	chr1:45097299-45098368	U87	brain:	n/a	n/a
22	POLR2A	chr1:45097140-45098248	A549	lung:	n/a	n/a
23	MAX	chr1:45097015-45098392	HepG2	liver:	n/a	chr1:45097629-45097638 chr1:45097629-45097638 chr1:45097628-45097637 chr1:45097630-45097639
24	POLR2A	chr1:45096944-45098177	K562	blood:	n/a	n/a
25	POLR2A	chr1:45097358-45098286	Gliobla	brain:	n/a	n/a
26	MAX	chr1:45096972-45098404	HepG2	liver:	n/a	chr1:45097629-45097638 chr1:45097629-45097638 chr1:45097628-45097637 chr1:45097630-45097639
27	YY1	chr1:45097169-45098282	HCT-116	colon:	n/a	chr1:45097577-45097591 chr1:45097580-45097591 chr1:45097580-45097589 chr1:45097638-45097658 chr1:45097390-45097404
28	ELF1	chr1:45097231-45098085	K562	blood:	n/a	chr1:45097557-45097570 chr1:45097397-45097409 chr1:45097576-45097588
29	BHLHE40	chr1:45097185-45098093	HepG2	liver:	n/a	chr1:45097629-45097638 chr1:45097629-45097638
30	POLR2A	chr1:45097019-45098438	Hela-S3	cervix:	n/a	n/a
31	ELF1	chr1:45097096-45098346	GM12878	blood:	n/a	chr1:45097557-45097570 chr1:45097397-45097409 chr1:45097576-45097588
32	CHD1	chr1:45097221-45098095	GM12878	blood:	n/a	chr1:45097389-45097399
33	POLR2A	chr1:45097019-45098315	PANC-1	pancreas:	n/a	n/a
34	IRF1	chr1:45097443-45098182	K562	blood:	n/a	n/a
35	POLR2A	chr1:45096631-45100261	HepG2	liver:	n/a	n/a
36	TBP	chr1:45097939-45098082	Hela-S3	cervix:	n/a	n/a
37	STAT5A	chr1:45097685-45098077	GM12878	blood:	n/a	n/a
38	EP300	chr1:45097110-45098703	K562	blood:	n/a	chr1:45097575-45097591
39	POLR2A	chr1:45096770-45098362	HepG2	liver:	n/a	n/a
40	POLR2A	chr1:45097236-45098317	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr1:45097133-45098258	HepG2	liver:	n/a	n/a
42	MAX	chr1:45096871-45098447	HCT-116	colon:	n/a	chr1:45097629-45097638 chr1:45097629-45097638 chr1:45097628-45097637 chr1:45097630-45097639
43	POLR2A	chr1:45096755-45098744	K562	blood:	n/a	n/a
44	TBP	chr1:45097825-45098201	GM12878	blood:	n/a	n/a
45	GTF2F1	chr1:45097409-45098281	H1-hESC	embryonic stem cell:	n/a	n/a
46	YY1	chr1:45097001-45098287	K562	blood:	n/a	chr1:45097577-45097591 chr1:45097580-45097591 chr1:45097580-45097589 chr1:45097638-45097658 chr1:45097390-45097404
47	POLR2A	chr1:45097094-45098701	IMR90	lung:	n/a	n/a
48	POLR2A	chr1:45096207-45100173	GM12878	blood:	n/a	n/a
49	TAF7	chr1:45097124-45098076	H1-hESC	embryonic stem cell:	n/a	n/a
50	USF1	chr1:45097162-45098075	ECC-1	luminal epithelium:	n/a	chr1:45097629-45097638 chr1:45097629-45097638

No.	Distal block	Cell Line	Cell type
1	chr1:44818922..44822604-chr1:45096121..45099112,6	K562	blood:
2	chr1:45089432..45094163-chr1:45095736..45099125,6	MCF-7	breast:
3	chr1:44677773..44680547-chr1:45095385..45099072,4	K562	blood:
4	chr1:45097493..45098414-chr6:43543365..43544009,2	HCT-116	colon:
5	chr1:45077147..45081258-chr1:45096476..45100107,4	MCF-7	breast:
6	chr1:44676967..44680043-chr1:45097059..45099100,3	K562	blood:
7	chr1:45096334..45100885-chr1:45195106..45197628,6	K562	blood:
8	chr1:45097570..45100220-chr1:45105727..45109004,3	MCF-7	breast:
9	chr1:45097288..45098193-chr12:49110421..49111318,2	HCT-116	colon:
10	chr1:45095169..45100377-chr1:45133934..45142864,15	K562	blood:
11	chr1:45095364..45099259-chr1:45185766..45189852,13	K562	blood:
12	chr1:45096334..45099417-chr1:45195073..45197438,5	K562	blood:
13	chr1:45096184..45099066-chr1:45264568..45266380,3	K562	blood:
14	chr1:44482218..44484038-chr1:45097268..45099139,2	K562	blood:
15	chr1:45086647..45106769-chr1:45179099..45192041,56	K562	blood:
16	chr1:45097355..45098136-chr19:3572542..3573373,2	Hela-S3	cervix:
17	chr1:45097395..45098344-chr11:8703634..8704499,2	NB4	blood:
18	chr1:45097189..45098175-chr2:101618808..101619704,2	HCT-116	colon:
19	chr1:44459804..44461997-chr1:45097523..45099408,2	MCF-7	breast:
20	chr1:45096002..45100159-chr1:45110119..45116077,6	MCF-7	breast:
21	chr1:45096122..45099489-chr1:45284877..45287072,3	K562	blood:

Variant related genes	Relation type
RNF220	TF binding region
ENSG00000198520	Chromatin interaction
ENSG00000187147	Chromatin interaction
ENSG00000124571	Chromatin interaction
ENSG00000170734	Chromatin interaction
ENSG00000117419	Chromatin interaction
ENSG00000126106	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000064961	Chromatin interaction
ENSG00000129315	Chromatin interaction
ENSG00000196517	Chromatin interaction
ENSG00000173846	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000071082	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000166441	Chromatin interaction
ENSG00000178028	Chromatin interaction
ENSG00000159214	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	chr1:45096800-45098200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:45096800-45098400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:45096800-45098400	Active TSS	Fetal Kidney	kidney
4	chr1:45096800-45098400	Active TSS	Rectal Smooth Muscle	rectum
5	chr1:45096800-45099000	Active TSS	A549	lung
6	chr1:45097000-45098200	Active TSS	Primary hematopoietic stem cells	blood
7	chr1:45097000-45098200	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr1:45097000-45098200	Active TSS	Rectal Mucosa Donor 31	rectum
9	chr1:45097000-45098400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr1:45097000-45098400	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr1:45097000-45098400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:45097000-45098400	Active TSS	Left Ventricle	heart
13	chr1:45097000-45098600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:45097000-45098600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:45097000-45098600	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr1:45097200-45098200	Active TSS	Fetal Brain Female	brain
17	chr1:45097200-45098200	Active TSS	Fetal Stomach	stomach
18	chr1:45097200-45098200	Transcr. at gene 5' and 3'	Right Atrium	heart
19	chr1:45097200-45098200	Active TSS	HepG2	liver
20	chr1:45097200-45098400	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr1:45097200-45098400	Active TSS	Primary T cells from cord blood	blood
22	chr1:45097200-45098400	Active TSS	Colon Smooth Muscle	Colon
23	chr1:45097200-45098400	Active TSS	Fetal Lung	lung
24	chr1:45097200-45098400	Active TSS	Gastric	stomach
25	chr1:45097200-45098400	Active TSS	Ovary	ovary
26	chr1:45097200-45098400	Active TSS	Placenta Amnion	Placenta Amnion
27	chr1:45097200-45098400	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr1:45097200-45098400	Active TSS	Small Intestine	intestine
29	chr1:45097200-45098600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:45097200-45098600	Active TSS	H9 Cell Line	embryonic stem cell
31	chr1:45097200-45098600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:45097200-45098600	Active TSS	Aorta	Aorta
33	chr1:45097200-45098600	Active TSS	Brain Substantia Nigra	brain
34	chr1:45097200-45098600	Active TSS	Pancreas	Pancrea
35	chr1:45097200-45098600	Active TSS	Psoas Muscle	Psoas
36	chr1:45097200-45098800	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr1:45097200-45098800	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr1:45097200-45099000	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr1:45097400-45098200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:45097400-45098200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:45097400-45098200	Active TSS	Primary monocytes fromperipheralblood	blood
42	chr1:45097400-45098200	Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr1:45097400-45098200	Active TSS	Primary B cells from cord blood	blood
44	chr1:45097400-45098200	Active TSS	Primary B cells from peripheral blood	blood
45	chr1:45097400-45098200	Active TSS	Primary T cells fromperipheralblood	blood
46	chr1:45097400-45098200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr1:45097400-45098200	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr1:45097400-45098200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:45097400-45098200	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr1:45097400-45098200	Active TSS	Primary T helper cells fromperipheralblood	blood

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