Variant report

Variant	rs530137147
Chromosome Location	chr1:57111339-57111340
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	MAX	chr1:57110729-57111452	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr1:57110497-57111689	ECC-1	luminal epithelium:	n/a	n/a
3	TBP	chr1:57110901-57111920	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr1:57110683-57111977	H1-hESC	embryonic stem cell:	n/a	n/a
5	E2F6	chr1:57110344-57111389	H1-hESC	embryonic stem cell:	n/a	chr1:57111003-57111013 chr1:57111006-57111016 chr1:57111000-57111010
6	MAX	chr1:57110265-57111822	A549	lung:	n/a	n/a
7	RCOR1	chr1:57110073-57112051	Hela-S3	cervix:	n/a	n/a
8	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
9	TAF1	chr1:57110897-57111618	H1-hESC	embryonic stem cell:	n/a	n/a
10	TEAD4	chr1:57110919-57112036	ECC-1	luminal epithelium:	n/a	n/a
11	MAZ	chr1:57109756-57111909	IMR90	lung:	n/a	n/a
12	TAF1	chr1:57110594-57111494	HepG2	liver:	n/a	n/a
13	E2F1	chr1:57110698-57111742	Hela-S3	cervix:	n/a	chr1:57111003-57111013 chr1:57111006-57111016 chr1:57111000-57111010
14	ZNF263	chr1:57110992-57112084	HEK293-T-REx	kidney:	n/a	n/a
15	CREB1	chr1:57110424-57111347	HepG2	liver:	n/a	n/a
16	POLR2A	chr1:57111269-57111880	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr1:57110447-57111768	HepG2	liver:	n/a	n/a
18	E2F6	chr1:57110703-57111394	H1-hESC	embryonic stem cell:	n/a	chr1:57111003-57111013 chr1:57111006-57111016 chr1:57111000-57111010
19	POLR2A	chr1:57110217-57111688	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr1:57110266-57111698	HEK293	kidney:	n/a	n/a
21	POLR2A	chr1:57110442-57111954	H1-hESC	embryonic stem cell:	n/a	n/a
22	HEY1	chr1:57110531-57111547	HepG2	liver:	n/a	chr1:57111328-57111343 chr1:57110752-57110767 chr1:57111000-57111015 chr1:57110776-57110791
23	SMARCB1	chr1:57109860-57111913	Hela-S3	cervix:	n/a	n/a
24	MAX	chr1:57110405-57111800	HepG2	liver:	n/a	n/a
25	MAX	chr1:57110365-57111746	HepG2	liver:	n/a	n/a
26	POLR2A	chr1:57110614-57111433	A549	lung:	n/a	n/a
27	TAF1	chr1:57110896-57111956	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr1:57110339-57111757	H1-neurons	neurons:	n/a	n/a
29	TAF1	chr1:57110605-57111490	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr1:57110267-57111969	Hela-S3	cervix:	n/a	n/a
31	CTBP2	chr1:57110553-57111521	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr1:57110918-57111360	Gliobla	brain:	n/a	n/a
33	MAX	chr1:57110595-57111802	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr1:57110068-57112007	Hela-S3	cervix:	n/a	n/a
35	SIN3AK20	chr1:57110638-57111370	PANC-1	pancreas:	n/a	n/a
36	MXI1	chr1:57111051-57112023	Hela-S3	cervix:	n/a	n/a
37	MAX	chr1:57110505-57111625	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr1:57110669-57111371	A549	lung:	n/a	n/a
39	SIN3A	chr1:57110934-57112065	H1-hESC	embryonic stem cell:	n/a	chr1:57111263-57111276
40	ZNF143	chr1:57110649-57111533	H1-hESC	embryonic stem cell:	n/a	chr1:57111328-57111338 chr1:57110756-57110766 chr1:57110983-57110998 chr1:57110982-57111001 chr1:57110772-57110782
41	ZBTB7A	chr1:57110267-57111426	ECC-1	luminal epithelium:	n/a	n/a
42	TCF7L2	chr1:57110512-57111689	HCT-116	colon:	n/a	n/a
43	POLR2A	chr1:57110276-57111893	HepG2	liver:	n/a	n/a
44	MAX	chr1:57110581-57111389	HCT-116	colon:	n/a	n/a
45	POLR2A	chr1:57109759-57112147	Hela-S3	cervix:	n/a	n/a
46	TAF1	chr1:57110593-57111420	HepG2	liver:	n/a	n/a
47	MAX	chr1:57110784-57111674	SK-N-SH	brain:	n/a	n/a
48	MYC	chr1:57111316-57111418	H1-hESC	embryonic stem cell:	n/a	n/a
49	HA-E2F1	chr1:57110548-57111702	Hela-S3	cervix:	n/a	chr1:57111003-57111013 chr1:57111006-57111016 chr1:57111000-57111010
50	POLR2A	chr1:57110503-57111681	H1-neurons	neurons:	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
ENSG00000264549	Chromatin interaction
ENSG00000251131	Chromatin interaction
ENSG00000204628	Chromatin interaction
ENSG00000100997	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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57109800-57111400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
2	chr1:57109800-57111600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:57109800-57111600	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr1:57109800-57111800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr1:57109800-57112000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr1:57109800-57112000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr1:57109800-57112000	Active TSS	Psoas Muscle	Psoas
8	chr1:57109800-57112200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr1:57109800-57112200	Active TSS	Brain Angular Gyrus	brain
10	chr1:57109800-57112400	Active TSS	Rectal Smooth Muscle	rectum
11	chr1:57109800-57113200	Active TSS	Right Atrium	heart
12	chr1:57109800-57114600	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr1:57110000-57111400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:57110000-57111400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:57110000-57111400	Active TSS	NH-A	brain
16	chr1:57110000-57111600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr1:57110000-57111600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
18	chr1:57110000-57111600	Active TSS	Fetal Lung	lung
19	chr1:57110000-57111600	Active TSS	Ovary	ovary
20	chr1:57110000-57111800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr1:57110000-57112000	Active TSS	H9 Cell Line	embryonic stem cell
22	chr1:57110000-57112000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:57110000-57112000	Active TSS	Fetal Brain Female	brain
24	chr1:57110000-57112000	Bivalent/Poised TSS	Osteobl	bone
25	chr1:57110000-57112200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:57110000-57112200	Active TSS	Brain Cingulate Gyrus	brain
27	chr1:57110000-57112200	Active TSS	Hela-S3	cervix
28	chr1:57110000-57112400	Active TSS	Brain Anterior Caudate	brain
29	chr1:57110000-57112400	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr1:57110000-57112400	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr1:57110000-57112600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:57110000-57113200	Active TSS	Stomach Smooth Muscle	stomach
33	chr1:57110000-57113400	Active TSS	Right Ventricle	heart
34	chr1:57110200-57111400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:57110200-57111400	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr1:57110200-57111400	Active TSS	HepG2	liver
37	chr1:57110200-57111400	Active TSS	HSMM	muscle
38	chr1:57110200-57111400	Active TSS	HSMMtube	muscle
39	chr1:57110200-57111400	Active TSS	NHDF-Ad	bronchial
40	chr1:57110200-57111600	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr1:57110200-57111600	Bivalent/Poised TSS	Fetal Kidney	kidney
42	chr1:57110200-57111800	Active TSS	Pancreas	Pancrea
43	chr1:57110200-57112000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:57110200-57112000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
45	chr1:57110200-57112000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:57110200-57112000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:57110200-57112200	Active TSS	Aorta	Aorta
48	chr1:57110200-57112600	Active TSS	Left Ventricle	heart
49	chr1:57110200-57112600	Active TSS	A549	lung
50	chr1:57110200-57113000	Active TSS	Fetal Heart	heart

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