Variant report

Variant	rs190402093
Chromosome Location	chr1:151693869-151693870
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr1:151692377-151694954	SK-N-SH	brain:	n/a	n/a
2	YY1	chr1:151693852-151694410	SK-N-SH	brain:	n/a	chr1:151694224-151694235
3	YY1	chr1:151693868-151694259	HepG2	liver:	n/a	chr1:151694224-151694235
4	YY1	chr1:151693832-151694233	SK-N-SH_RA	brain:	n/a	n/a
5	POLR2A	chr1:151693851-151694275	H1-neurons	neurons:	n/a	n/a
6	YY1	chr1:151693864-151694392	SK-N-SH	brain:	n/a	chr1:151694224-151694235
7	YY1	chr1:151693842-151694231	GM12878	blood:	n/a	n/a
8	MXI1	chr1:151692896-151693897	IMR90	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:151693838-151693888	AoSMC	blood vessel:	n/a
2	chr1:151693838-151693888	HMEC	breast:	n/a
3	chr1:151693838-151693888	HAEpiC	amniotic membrane:	n/a
4	chr1:151693838-151693888	BJ	skin:	n/a
5	chr1:151693838-151693888	HL-60	blood:	n/a
6	chr1:151693838-151693888	AG04450	lung:	fetal
7	chr1:151693838-151693888	NHDF-neo	bronchial:	n/a
8	chr1:151693838-151693888	AG09319	gingival:	n/a
9	chr1:151693838-151693888	K562	blood:	n/a
10	chr1:151693838-151693888	HIPEpiC	eye:	n/a
11	chr1:151693838-151693888	LNCaP	prostate:	n/a
12	chr1:151693838-151693888	HPAEpiC	pulmonary alveolar:	n/a
13	chr1:151693838-151693888	HRCEpiC	kidney:	n/a
14	chr1:151693838-151693888	HCM	heart:	n/a
15	chr1:151693838-151693888	BE2_C	brain:	n/a
16	chr1:151693838-151693888	ProgFib	skin:	n/a
17	chr1:151693838-151693888	HCT-116	colon:	n/a
18	chr1:151693838-151693888	Jurkat	blood:	n/a
19	chr1:151693838-151693888	SAEC	small airway:	n/a
20	chr1:151693838-151693888	HepG2	liver:	n/a
21	chr1:151693838-151693888	NB4	blood:	n/a
22	chr1:151693838-151693888	AG04449	skin:	fetal
23	chr1:151693838-151693888	IMR90	lung:	fetal
24	chr1:151693838-151693888	GM12878	blood:	n/a
25	chr1:151693838-151693888	GM12891	blood:	n/a
26	chr1:151693838-151693888	ovcar-3	ovarian:	n/a
27	chr1:151693838-151693888	SK-N-SH	brain:	n/a
28	chr1:151693838-151693888	A549	lung:	n/a
29	chr1:151693838-151693888	HCPEpiC	choroid plexus:	n/a
30	chr1:151693838-151693888	GM06990	blood:	n/a
31	chr1:151693838-151693888	HRPEpiC	eye:	n/a
32	chr1:151693838-151693888	CMK	blood:	n/a
33	chr1:151693838-151693888	ECC-1	luminal epithelium:	n/a
34	chr1:151693838-151693888	Hela-S3	cervix:	n/a
35	chr1:151693838-151693888	HCF	heart:	n/a
36	chr1:151693838-151693888	T-47D	breast:	n/a
37	chr1:151693838-151693888	RPTEC	kidney:	n/a
38	chr1:151693838-151693888	NHBE	bronchial:	n/a
39	chr1:151693838-151693888	AG10803	skin:	n/a
40	chr1:151693838-151693888	HRE	kidney:	n/a
41	chr1:151693838-151693888	PFSK-1	brain:	n/a
42	chr1:151693838-151693888	NT2-D1	testis:	n/a
43	chr1:151693838-151693888	HEK293	kidney:	embryo
44	chr1:151693838-151693888	Caco-2	colon:	n/a
45	chr1:151693838-151693888	AG09309	skin:	n/a
46	chr1:151693838-151693888	NH-A	brain:	n/a
47	chr1:151693838-151693888	HEEpiC	esophagus:	n/a
48	chr1:151693838-151693888	Hepatocyte	liver:	n/a
49	chr1:151693838-151693888	GM12892	blood:	n/a
50	chr1:151693838-151693888	SK-N-SH_RA	brain:	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
ENSG00000143442	Chromatin interaction
ENSG00000159409	Chromatin interaction
ENSG00000178796	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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151691000-151694200	Weak transcription	Spleen	Spleen
2	chr1:151692600-151694000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:151692600-151694600	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr1:151692600-151694600	Enhancers	Small Intestine	intestine
5	chr1:151692800-151694000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:151692800-151694400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:151693000-151694000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:151693000-151694000	Enhancers	Brain Germinal Matrix	brain
9	chr1:151693000-151694000	Enhancers	Placenta	Placenta
10	chr1:151693000-151694000	Active TSS	Right Ventricle	heart
11	chr1:151693000-151694200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:151693000-151694200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:151693000-151694200	Active TSS	Colonic Mucosa	Colon
14	chr1:151693000-151694200	Active TSS	Colon Smooth Muscle	Colon
15	chr1:151693000-151694200	Active TSS	Lung	lung
16	chr1:151693000-151694200	Active TSS	Right Atrium	heart
17	chr1:151693000-151694200	Active TSS	NHLF	lung
18	chr1:151693000-151694400	Active TSS	Aorta	Aorta
19	chr1:151693000-151694400	Enhancers	Pancreas	Pancrea
20	chr1:151693000-151694600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:151693000-151694600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:151693000-151694600	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr1:151693200-151694000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:151693200-151694000	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
25	chr1:151693200-151694200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:151693200-151694200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
27	chr1:151693200-151694200	Active TSS	Ovary	ovary
28	chr1:151693200-151694200	Active TSS	Psoas Muscle	Psoas
29	chr1:151693200-151694200	Active TSS	Rectal Smooth Muscle	rectum
30	chr1:151693200-151694400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:151693200-151694400	Active TSS	NHDF-Ad	bronchial
32	chr1:151693200-151694600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr1:151693200-151694800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:151693400-151694000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:151693400-151694000	Enhancers	Esophagus	oesophagus
36	chr1:151693400-151694000	Bivalent/Poised TSS	Thymus	Thymus
37	chr1:151693400-151694200	Active TSS	H9 Cell Line	embryonic stem cell
38	chr1:151693400-151694200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr1:151693400-151694200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:151693400-151694200	Active TSS	Gastric	stomach
41	chr1:151693400-151694200	Active TSS	Left Ventricle	heart
42	chr1:151693400-151694200	Bivalent/Poised TSS	NHEK	skin
43	chr1:151693400-151694400	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr1:151693400-151694400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr1:151693400-151694600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr1:151693600-151694000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:151693600-151694000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:151693600-151694000	Active TSS	Brain Substantia Nigra	brain
49	chr1:151693600-151694200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:151693600-151694200	Active TSS	Brain Angular Gyrus	brain

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