Variant report

Variant	rs532642112
Chromosome Location	chr1:151693544-151693545
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr1:151693495-151693695	GM12878	blood:	n/a	n/a
2	SMC3	chr1:151693177-151693604	GM12878	blood:	n/a	n/a
3	MXI1	chr1:151692377-151694954	SK-N-SH	brain:	n/a	n/a
4	MXI1	chr1:151692896-151693897	IMR90	lung:	n/a	n/a
5	CTCF	chr1:151693480-151693630	NHLF	lung:	n/a	n/a
6	NR3C1	chr1:151693390-151693768	A549	lung:	n/a	chr1:151693501-151693518

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:151693503-151693553	AG10803	skin:	n/a
2	chr1:151693503-151693553	NT2-D1	testis:	n/a
3	chr1:151693503-151693553	IMR90	lung:	fetal
4	chr1:151693503-151693553	NHDF-neo	bronchial:	n/a
5	chr1:151693503-151693553	AG04449	skin:	fetal
6	chr1:151693503-151693553	GM12892	blood:	n/a
7	chr1:151693503-151693553	AG04450	lung:	fetal
8	chr1:151693503-151693553	PFSK-1	brain:	n/a
9	chr1:151693503-151693553	H1-hESC	embryonic stem cell:	embryo
10	chr1:151693503-151693553	MCF10A-Er-Src	breast:	n/a
11	chr1:151693503-151693553	Jurkat	blood:	n/a
12	chr1:151693503-151693553	SK-N-MC	brain:	n/a
13	chr1:151693503-151693553	Caco-2	colon:	n/a
14	chr1:151693503-151693553	HIPEpiC	eye:	n/a
15	chr1:151693503-151693553	NH-A	brain:	n/a
16	chr1:151693503-151693553	PANC-1	pancreas:	n/a
17	chr1:151693503-151693553	HPAEpiC	pulmonary alveolar:	n/a
18	chr1:151693503-151693553	SAEC	small airway:	n/a
19	chr1:151693503-151693553	HCM	heart:	n/a
20	chr1:151693503-151693553	RPTEC	kidney:	n/a
21	chr1:151693503-151693553	K562	blood:	n/a
22	chr1:151693503-151693553	HNPCEpiC	eye:	n/a
23	chr1:151693503-151693553	AG09319	gingival:	n/a
24	chr1:151693503-151693553	SK-N-SH	brain:	n/a
25	chr1:151693503-151693553	HL-60	blood:	n/a
26	chr1:151693503-151693553	LNCaP	prostate:	n/a
27	chr1:151693503-151693553	HCPEpiC	choroid plexus:	n/a
28	chr1:151693503-151693553	NHBE	bronchial:	n/a
29	chr1:151693503-151693553	HRCEpiC	kidney:	n/a
30	chr1:151693503-151693553	HAEpiC	amniotic membrane:	n/a
31	chr1:151693503-151693553	U87	brain:	n/a
32	chr1:151693503-151693553	T-47D	breast:	n/a
33	chr1:151693503-151693553	GM19239	blood:	n/a
34	chr1:151693503-151693553	Hela-S3	cervix:	n/a
35	chr1:151693503-151693553	HRPEpiC	eye:	n/a
36	chr1:151693503-151693553	HEEpiC	esophagus:	n/a
37	chr1:151693503-151693553	GM12878	blood:	n/a
38	chr1:151693503-151693553	HUVEC	blood vessel:	n/a
39	chr1:151693503-151693553	PrEC	prostate:	n/a
40	chr1:151693503-151693553	MCF-7	breast:	n/a
41	chr1:151693503-151693553	A549	lung:	n/a
42	chr1:151693503-151693553	HCT-116	colon:	n/a
43	chr1:151693503-151693553	BE2_C	brain:	n/a
44	chr1:151693503-151693553	Hepatocyte	liver:	n/a
45	chr1:151693503-151693553	HRE	kidney:	n/a
46	chr1:151693503-151693553	HCF	heart:	n/a
47	chr1:151693503-151693553	SK-N-SH_RA	brain:	n/a
48	chr1:151693503-151693553	HMEC	breast:	n/a
49	chr1:151693503-151693553	HepG2	liver:	n/a
50	chr1:151693503-151693553	GM06990	blood:	n/a

(count:4 , 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	chr1:151674905..151676971-chr1:151691184..151693969,2	MCF-7	breast:
4	chr1:151430404..151432335-chr1:151692913..151695013,2	MCF-7	breast:

No data

Variant related genes	Relation type
CELF3	TF binding region
RIIAD1	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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151691000-151694200	Weak transcription	Spleen	Spleen
2	chr1:151692600-151693600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:151692600-151694000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:151692600-151694600	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr1:151692600-151694600	Enhancers	Small Intestine	intestine
6	chr1:151692800-151693600	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr1:151692800-151693600	Bivalent Enhancer	K562	blood
8	chr1:151692800-151693800	Flanking Active TSS	GM12878-XiMat	blood
9	chr1:151692800-151693800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
10	chr1:151692800-151694000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:151692800-151694400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:151693000-151693600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:151693000-151693600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
14	chr1:151693000-151693600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
15	chr1:151693000-151693600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:151693000-151693600	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr1:151693000-151693600	Bivalent Enhancer	Fetal Kidney	kidney
18	chr1:151693000-151693600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr1:151693000-151693800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:151693000-151693800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
21	chr1:151693000-151693800	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr1:151693000-151693800	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr1:151693000-151693800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
24	chr1:151693000-151693800	Flanking Active TSS	Liver	Liver
25	chr1:151693000-151693800	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr1:151693000-151693800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr1:151693000-151693800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:151693000-151693800	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr1:151693000-151693800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr1:151693000-151693800	Flanking Active TSS	Fetal Lung	lung
31	chr1:151693000-151693800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr1:151693000-151693800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr1:151693000-151693800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr1:151693000-151693800	Active TSS	Hela-S3	cervix
35	chr1:151693000-151693800	Flanking Active TSS	Osteobl	bone
36	chr1:151693000-151694000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:151693000-151694000	Enhancers	Brain Germinal Matrix	brain
38	chr1:151693000-151694000	Enhancers	Placenta	Placenta
39	chr1:151693000-151694000	Active TSS	Right Ventricle	heart
40	chr1:151693000-151694200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:151693000-151694200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:151693000-151694200	Active TSS	Colonic Mucosa	Colon
43	chr1:151693000-151694200	Active TSS	Colon Smooth Muscle	Colon
44	chr1:151693000-151694200	Active TSS	Lung	lung
45	chr1:151693000-151694200	Active TSS	Right Atrium	heart
46	chr1:151693000-151694200	Active TSS	NHLF	lung
47	chr1:151693000-151694400	Active TSS	Aorta	Aorta
48	chr1:151693000-151694400	Enhancers	Pancreas	Pancrea
49	chr1:151693000-151694600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:151693000-151694600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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