Variant report

Variant	rs551220375
Chromosome Location	chr1:151693916-151693917
allele	A/C
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	YY1	chr1:151693903-151694190	GM12891	blood:	n/a	n/a
2	MXI1	chr1:151692377-151694954	SK-N-SH	brain:	n/a	n/a
3	YY1	chr1:151693870-151694254	SK-N-SH_RA	brain:	n/a	chr1:151694224-151694235
4	YY1	chr1:151693852-151694410	SK-N-SH	brain:	n/a	chr1:151694224-151694235
5	YY1	chr1:151693868-151694259	HepG2	liver:	n/a	chr1:151694224-151694235
6	CTCF	chr1:151693880-151694030	AG04449	skin:	n/a	n/a
7	SIN3A	chr1:151693881-151694471	H1-hESC	embryonic stem cell:	n/a	n/a
8	YY1	chr1:151693914-151694085	K562	blood:	n/a	n/a
9	YY1	chr1:151693882-151694242	GM12878	blood:	n/a	chr1:151694224-151694235
10	YY1	chr1:151693832-151694233	SK-N-SH_RA	brain:	n/a	n/a
11	POLR2A	chr1:151693851-151694275	H1-neurons	neurons:	n/a	n/a
12	YY1	chr1:151693884-151694231	GM12892	blood:	n/a	n/a
13	MXI1	chr1:151693910-151694173	H1-hESC	embryonic stem cell:	n/a	n/a
14	YY1	chr1:151693864-151694392	SK-N-SH	brain:	n/a	chr1:151694224-151694235
15	YY1	chr1:151693842-151694231	GM12878	blood:	n/a	n/a
16	YY1	chr1:151693904-151694411	H1-hESC	embryonic stem cell:	n/a	chr1:151694224-151694235
17	YY1	chr1:151693872-151694211	ECC-1	luminal epithelium:	n/a	n/a
18	YY1	chr1:151693914-151694175	K562	blood:	n/a	n/a
19	YY1	chr1:151693890-151694168	GM12892	blood:	n/a	n/a

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:

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