Variant report

Variant	rs557938513
Chromosome Location	chr1:151694118-151694119
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr1:151693903-151694190	GM12891	blood:	n/a	n/a
2	NANOG	chr1:151693925-151694160	H1-hESC	embryonic stem cell:	n/a	n/a
3	MXI1	chr1:151692377-151694954	SK-N-SH	brain:	n/a	n/a
4	YY1	chr1:151693870-151694254	SK-N-SH_RA	brain:	n/a	chr1:151694224-151694235
5	CTCF	chr1:151694068-151694303	A549	lung:	n/a	n/a
6	YY1	chr1:151693852-151694410	SK-N-SH	brain:	n/a	chr1:151694224-151694235
7	YY1	chr1:151693868-151694259	HepG2	liver:	n/a	chr1:151694224-151694235
8	CTCF	chr1:151694080-151694230	RPTEC	kidney:	n/a	n/a
9	SIN3A	chr1:151693881-151694471	H1-hESC	embryonic stem cell:	n/a	n/a
10	YY1	chr1:151693882-151694242	GM12878	blood:	n/a	chr1:151694224-151694235
11	RAD21	chr1:151694047-151694336	A549	lung:	n/a	n/a
12	MXI1	chr1:151693945-151694194	GM12878	blood:	n/a	n/a
13	YY1	chr1:151693832-151694233	SK-N-SH_RA	brain:	n/a	n/a
14	POLR2A	chr1:151693851-151694275	H1-neurons	neurons:	n/a	n/a
15	YY1	chr1:151693884-151694231	GM12892	blood:	n/a	n/a
16	MXI1	chr1:151693910-151694173	H1-hESC	embryonic stem cell:	n/a	n/a
17	SIN3AK20	chr1:151693934-151694407	H1-hESC	embryonic stem cell:	n/a	n/a
18	SIN3AK20	chr1:151693944-151694183	H1-hESC	embryonic stem cell:	n/a	n/a
19	YY1	chr1:151693864-151694392	SK-N-SH	brain:	n/a	chr1:151694224-151694235
20	RAD21	chr1:151694085-151694332	SK-N-SH_RA	brain:	n/a	n/a
21	YY1	chr1:151693842-151694231	GM12878	blood:	n/a	n/a
22	RAD21	chr1:151693966-151694383	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr1:151694100-151694250	HCT-116	colon:	n/a	n/a
24	SIN3AK20	chr1:151693925-151694150	PANC-1	pancreas:	n/a	n/a
25	RAD21	chr1:151694039-151694373	A549	lung:	n/a	n/a
26	YY1	chr1:151693904-151694411	H1-hESC	embryonic stem cell:	n/a	chr1:151694224-151694235
27	GATA2	chr1:151694055-151694362	SH-SY5Y	brain:	n/a	n/a
28	CHD2	chr1:151694069-151694178	H1-hESC	embryonic stem cell:	n/a	n/a
29	YY1	chr1:151693872-151694211	ECC-1	luminal epithelium:	n/a	n/a
30	HDAC2	chr1:151693973-151694168	H1-hESC	embryonic stem cell:	n/a	n/a
31	YY1	chr1:151693914-151694175	K562	blood:	n/a	n/a
32	YY1	chr1:151693954-151694286	H1-hESC	embryonic stem cell:	n/a	chr1:151694224-151694235
33	YY1	chr1:151693890-151694168	GM12892	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:151694108-151694158	HPAEpiC	pulmonary alveolar:	n/a
2	chr1:151694108-151694158	AG04449	skin:	fetal
3	chr1:151694108-151694158	GM19239	blood:	n/a
4	chr1:151694108-151694158	SK-N-MC	brain:	n/a
5	chr1:151694108-151694158	Jurkat	blood:	n/a
6	chr1:151694108-151694158	GM12878	blood:	n/a
7	chr1:151694108-151694158	AG09309	skin:	n/a
8	chr1:151694108-151694158	T-47D	breast:	n/a
9	chr1:151694108-151694158	HEEpiC	esophagus:	n/a
10	chr1:151694108-151694158	LNCaP	prostate:	n/a
11	chr1:151694108-151694158	PANC-1	pancreas:	n/a
12	chr1:151694108-151694158	Hepatocyte	liver:	n/a
13	chr1:151694108-151694158	HepG2	liver:	n/a
14	chr1:151694108-151694158	BJ	skin:	n/a
15	chr1:151694108-151694158	AG10803	skin:	n/a
16	chr1:151694108-151694158	ovcar-3	ovarian:	n/a
17	chr1:151694108-151694158	GM12891	blood:	n/a
18	chr1:151694108-151694158	HCM	heart:	n/a
19	chr1:151694108-151694158	SK-N-SH	brain:	n/a
20	chr1:151694108-151694158	Hela-S3	cervix:	n/a
21	chr1:151694108-151694158	ECC-1	luminal epithelium:	n/a
22	chr1:151694108-151694158	NT2-D1	testis:	n/a
23	chr1:151694108-151694158	NHDF-neo	bronchial:	n/a
24	chr1:151694108-151694158	HUVEC	blood vessel:	n/a
25	chr1:151694108-151694158	AG04450	lung:	fetal
26	chr1:151694108-151694158	HMEC	breast:	n/a
27	chr1:151694108-151694158	RPTEC	kidney:	n/a
28	chr1:151694108-151694158	MCF-7	breast:	n/a
29	chr1:151694108-151694158	MCF10A-Er-Src	breast:	n/a
30	chr1:151694108-151694158	HCF	heart:	n/a
31	chr1:151694108-151694158	HL-60	blood:	n/a
32	chr1:151694108-151694158	SK-N-SH_RA	brain:	n/a
33	chr1:151694108-151694158	U87	brain:	n/a
34	chr1:151694108-151694158	A549	lung:	n/a
35	chr1:151694108-151694158	SKMC	muscle:	n/a
36	chr1:151694108-151694158	NB4	blood:	n/a
37	chr1:151694108-151694158	SAEC	small airway:	n/a
38	chr1:151694108-151694158	HRCEpiC	kidney:	n/a
39	chr1:151694108-151694158	NH-A	brain:	n/a
40	chr1:151694108-151694158	PrEC	prostate:	n/a
41	chr1:151694108-151694158	AoSMC	blood vessel:	n/a
42	chr1:151694108-151694158	Caco-2	colon:	n/a
43	chr1:151694108-151694158	NHBE	bronchial:	n/a
44	chr1:151694108-151694158	GM12892	blood:	n/a
45	chr1:151694108-151694158	ProgFib	skin:	n/a
46	chr1:151694108-151694158	HEK293	kidney:	embryo
47	chr1:151694108-151694158	HCT-116	colon:	n/a
48	chr1:151694108-151694158	HNPCEpiC	eye:	n/a
49	chr1:151694108-151694158	PFSK-1	brain:	n/a
50	chr1:151694108-151694158	H1-hESC	embryonic stem cell:	embryo

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151693523..151696845-chr1:151699758..151701957,3	MCF-7	breast:
2	chr1:151685651..151688876-chr1:151692359..151694505,3	MCF-7	breast:
3	chr1:151430404..151432335-chr1:151692913..151695013,2	MCF-7	breast:

No data

Variant related genes	Relation type
RIIAD1	TF binding region
CELF3	TF binding region
CELF3	CpG island
RIIAD1	CpG island
ENSG00000178796	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000159409	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3437612	chr1:151693528-151694776	Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151691000-151694200	Weak transcription	Spleen	Spleen
2	chr1:151692600-151694600	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr1:151692600-151694600	Enhancers	Small Intestine	intestine
4	chr1:151692800-151694400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:151693000-151694200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:151693000-151694200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:151693000-151694200	Active TSS	Colonic Mucosa	Colon
8	chr1:151693000-151694200	Active TSS	Colon Smooth Muscle	Colon
9	chr1:151693000-151694200	Active TSS	Lung	lung
10	chr1:151693000-151694200	Active TSS	Right Atrium	heart
11	chr1:151693000-151694200	Active TSS	NHLF	lung
12	chr1:151693000-151694400	Active TSS	Aorta	Aorta
13	chr1:151693000-151694400	Enhancers	Pancreas	Pancrea
14	chr1:151693000-151694600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:151693000-151694600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:151693000-151694600	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr1:151693200-151694200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:151693200-151694200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
19	chr1:151693200-151694200	Active TSS	Ovary	ovary
20	chr1:151693200-151694200	Active TSS	Psoas Muscle	Psoas
21	chr1:151693200-151694200	Active TSS	Rectal Smooth Muscle	rectum
22	chr1:151693200-151694400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:151693200-151694400	Active TSS	NHDF-Ad	bronchial
24	chr1:151693200-151694600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr1:151693200-151694800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:151693400-151694200	Active TSS	H9 Cell Line	embryonic stem cell
27	chr1:151693400-151694200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr1:151693400-151694200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:151693400-151694200	Active TSS	Gastric	stomach
30	chr1:151693400-151694200	Active TSS	Left Ventricle	heart
31	chr1:151693400-151694200	Bivalent/Poised TSS	NHEK	skin
32	chr1:151693400-151694400	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr1:151693400-151694400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:151693400-151694600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr1:151693600-151694200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:151693600-151694200	Active TSS	Brain Angular Gyrus	brain
37	chr1:151693600-151694200	Active TSS	Brain Cingulate Gyrus	brain
38	chr1:151693600-151694200	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr1:151693600-151694200	Active TSS	Stomach Smooth Muscle	stomach
40	chr1:151693600-151694200	Bivalent/Poised TSS	HepG2	liver
41	chr1:151693600-151694400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
42	chr1:151693600-151694400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:151693600-151694600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
44	chr1:151693600-151694600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
45	chr1:151693600-151694600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
46	chr1:151693800-151694200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:151693800-151694200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:151693800-151694200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
49	chr1:151693800-151694200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:151693800-151694200	Active TSS	Primary hematopoietic stem cells	blood

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