Variant report

Variant	rs562930319
Chromosome Location	chr1:57111034-57111035
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	TEAD4	chr1:57110870-57111283	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr1:57110873-57111154	K562	blood:	n/a	chr1:57111003-57111013 chr1:57111006-57111016 chr1:57111000-57111010
3	MAX	chr1:57110729-57111452	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr1:57110497-57111689	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr1:57110645-57111293	A549	lung:	n/a	n/a
6	RCOR1	chr1:57110923-57111184	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:57110725-57111142	HCT-116	colon:	n/a	n/a
8	TBP	chr1:57110901-57111920	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr1:57110566-57111250	HepG2	liver:	n/a	n/a
10	POLR2A	chr1:57110683-57111977	H1-hESC	embryonic stem cell:	n/a	n/a
11	YY1	chr1:57110857-57111248	HepG2	liver:	n/a	chr1:57111002-57111016 chr1:57110999-57111008 chr1:57111003-57111014 chr1:57111056-57111068 chr1:57111002-57111011 chr1:57111005-57111014 chr1:57111050-57111070 chr1:57111000-57111011 chr1:57110999-57111013
12	E2F6	chr1:57110344-57111389	H1-hESC	embryonic stem cell:	n/a	chr1:57111003-57111013 chr1:57111006-57111016 chr1:57111000-57111010
13	YY1	chr1:57110881-57111229	SK-N-SH_RA	brain:	n/a	chr1:57111002-57111016 chr1:57110999-57111008 chr1:57111003-57111014 chr1:57111056-57111068 chr1:57111002-57111011 chr1:57111005-57111014 chr1:57111050-57111070 chr1:57111000-57111011 chr1:57110999-57111013
14	HEY1	chr1:57110671-57111206	HepG2	liver:	n/a	chr1:57111000-57111015 chr1:57110776-57110791 chr1:57110752-57110767
15	MAX	chr1:57110265-57111822	A549	lung:	n/a	n/a
16	CEBPD	chr1:57110799-57111044	HepG2	liver:	n/a	n/a
17	RCOR1	chr1:57110073-57112051	Hela-S3	cervix:	n/a	n/a
18	YY1	chr1:57110607-57111387	HepG2	liver:	n/a	chr1:57111002-57111016 chr1:57110999-57111008 chr1:57111003-57111014 chr1:57111056-57111068 chr1:57111002-57111011 chr1:57111005-57111014 chr1:57110698-57110707 chr1:57111050-57111070 chr1:57111000-57111011 chr1:57110999-57111013
19	TAF1	chr1:57110897-57111618	H1-hESC	embryonic stem cell:	n/a	n/a
20	TEAD4	chr1:57110919-57112036	ECC-1	luminal epithelium:	n/a	n/a
21	MAZ	chr1:57109756-57111909	IMR90	lung:	n/a	n/a
22	TAF1	chr1:57110594-57111494	HepG2	liver:	n/a	n/a
23	E2F1	chr1:57110698-57111742	Hela-S3	cervix:	n/a	chr1:57111003-57111013 chr1:57111006-57111016 chr1:57111000-57111010
24	RAD21	chr1:57110726-57111136	H1-hESC	embryonic stem cell:	n/a	n/a
25	ZNF263	chr1:57110992-57112084	HEK293-T-REx	kidney:	n/a	n/a
26	POLR2A	chr1:57110946-57111243	MCF-7	breast:	n/a	n/a
27	CREB1	chr1:57110424-57111347	HepG2	liver:	n/a	n/a
28	POLR2A	chr1:57110447-57111768	HepG2	liver:	n/a	n/a
29	E2F6	chr1:57110703-57111394	H1-hESC	embryonic stem cell:	n/a	chr1:57111003-57111013 chr1:57111006-57111016 chr1:57111000-57111010
30	POLR2A	chr1:57110217-57111688	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr1:57110266-57111698	HEK293	kidney:	n/a	n/a
32	ZNF143	chr1:57111015-57111074	GM12878	blood:	n/a	n/a
33	ZBTB7A	chr1:57110575-57111113	HepG2	liver:	n/a	n/a
34	ZNF143	chr1:57110877-57111244	Hela-S3	cervix:	n/a	chr1:57110983-57110998 chr1:57110982-57111001
35	MAX	chr1:57110828-57111260	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr1:57110442-57111954	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr1:57110619-57111238	HepG2	liver:	n/a	n/a
38	HEY1	chr1:57110531-57111547	HepG2	liver:	n/a	chr1:57111328-57111343 chr1:57110752-57110767 chr1:57111000-57111015 chr1:57110776-57110791
39	POLR2A	chr1:57110270-57111232	Hela-S3	cervix:	n/a	n/a
40	SMARCB1	chr1:57109860-57111913	Hela-S3	cervix:	n/a	n/a
41	MAX	chr1:57110405-57111800	HepG2	liver:	n/a	n/a
42	TAF1	chr1:57110904-57111159	SK-N-SH	brain:	n/a	n/a
43	MAX	chr1:57110365-57111746	HepG2	liver:	n/a	n/a
44	POLR2A	chr1:57110645-57111242	HepG2	liver:	n/a	n/a
45	ZBTB7A	chr1:57110402-57111227	ECC-1	luminal epithelium:	n/a	n/a
46	MAX	chr1:57110715-57111234	HepG2	liver:	n/a	n/a
47	MAZ	chr1:57110438-57111236	HepG2	liver:	n/a	n/a
48	EP300	chr1:57110873-57111118	SK-N-SH_RA	brain:	n/a	chr1:57111001-57111010 chr1:57111004-57111013 chr1:57111007-57111016 chr1:57111012-57111028
49	CHD2	chr1:57110314-57111134	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr1:57110614-57111433	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:57110843..57111363-chr20:25371274..25371823,2	HCT-116	colon:
2	chr1:57110866..57111695-chr5:180670087..180670753,2	Hela-S3	cervix:
3	chr1:57110974..57111787-chr5:43018020..43018793,2	Hela-S3	cervix:

Variant related genes	Relation type
PPAP2B	TF binding region
ENSG00000100997	Chromatin interaction
ENSG00000204628	Chromatin interaction
ENSG00000251131	Chromatin interaction
ENSG00000264549	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3371942	chr1:57109389-57112237	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3402388	chr1:57109989-57112537	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv3445991	chr1:57110114-57112162	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57109800-57111200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:57109800-57111400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
3	chr1:57109800-57111600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:57109800-57111600	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr1:57109800-57111800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
6	chr1:57109800-57112000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr1:57109800-57112000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr1:57109800-57112000	Active TSS	Psoas Muscle	Psoas
9	chr1:57109800-57112200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr1:57109800-57112200	Active TSS	Brain Angular Gyrus	brain
11	chr1:57109800-57112400	Active TSS	Rectal Smooth Muscle	rectum
12	chr1:57109800-57113200	Active TSS	Right Atrium	heart
13	chr1:57109800-57114600	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr1:57110000-57111400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:57110000-57111400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:57110000-57111400	Active TSS	NH-A	brain
17	chr1:57110000-57111600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr1:57110000-57111600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
19	chr1:57110000-57111600	Active TSS	Fetal Lung	lung
20	chr1:57110000-57111600	Active TSS	Ovary	ovary
21	chr1:57110000-57111800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr1:57110000-57112000	Active TSS	H9 Cell Line	embryonic stem cell
23	chr1:57110000-57112000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:57110000-57112000	Active TSS	Fetal Brain Female	brain
25	chr1:57110000-57112000	Bivalent/Poised TSS	Osteobl	bone
26	chr1:57110000-57112200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:57110000-57112200	Active TSS	Brain Cingulate Gyrus	brain
28	chr1:57110000-57112200	Active TSS	Hela-S3	cervix
29	chr1:57110000-57112400	Active TSS	Brain Anterior Caudate	brain
30	chr1:57110000-57112400	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr1:57110000-57112400	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr1:57110000-57112600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:57110000-57113200	Active TSS	Stomach Smooth Muscle	stomach
34	chr1:57110000-57113400	Active TSS	Right Ventricle	heart
35	chr1:57110200-57111400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:57110200-57111400	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr1:57110200-57111400	Active TSS	HepG2	liver
38	chr1:57110200-57111400	Active TSS	HSMM	muscle
39	chr1:57110200-57111400	Active TSS	HSMMtube	muscle
40	chr1:57110200-57111400	Active TSS	NHDF-Ad	bronchial
41	chr1:57110200-57111600	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr1:57110200-57111600	Bivalent/Poised TSS	Fetal Kidney	kidney
43	chr1:57110200-57111800	Active TSS	Pancreas	Pancrea
44	chr1:57110200-57112000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:57110200-57112000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
46	chr1:57110200-57112000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:57110200-57112000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:57110200-57112200	Active TSS	Aorta	Aorta
49	chr1:57110200-57112600	Active TSS	Left Ventricle	heart
50	chr1:57110200-57112600	Active TSS	A549	lung

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