Variant report

Variant	rs587730159
Chromosome Location	chr1:144887236-144887237
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:6)
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	POLR2A	chr1:144886257-144888217	U87	brain:	n/a	n/a
2	POLR2A	chr1:144885901-144887957	U87	brain:	n/a	n/a
3	POLR2A	chr1:144886508-144887328	K562	blood:	n/a	n/a
4	FOS	chr1:144887215-144887683	HUVEC	blood vessel:	n/a	chr1:144887458-144887470 chr1:144887459-144887469 chr1:144887460-144887468 chr1:144887461-144887468 chr1:144887460-144887468 chr1:144887458-144887469
5	POLR2A	chr1:144886587-144888217	U87	brain:	n/a	n/a
6	GATA1	chr1:144885556-144889841	K562	blood:	n/a	chr1:144887471-144887492 chr1:144888958-144888965 chr1:144887210-144887220 chr1:144887474-144887485 chr1:144887213-144887222

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:144887235-144887285	ovcar-3	ovarian:	n/a
2	chr1:144887235-144887285	GM12892	blood:	n/a
3	chr1:144887235-144887285	T-47D	breast:	n/a
4	chr1:144887235-144887285	MCF10A-Er-Src	breast:	n/a
5	chr1:144887235-144887285	SAEC	small airway:	n/a
6	chr1:144887235-144887285	ECC-1	luminal epithelium:	n/a
7	chr1:144887235-144887285	Hepatocyte	liver:	n/a
8	chr1:144887235-144887285	MCF-7	breast:	n/a
9	chr1:144887235-144887285	HepG2	liver:	n/a
10	chr1:144887235-144887285	A549	lung:	n/a
11	chr1:144887235-144887285	NHDF-neo	bronchial:	n/a
12	chr1:144887235-144887285	ProgFib	skin:	n/a
13	chr1:144887235-144887285	PrEC	prostate:	n/a
14	chr1:144887235-144887285	HNPCEpiC	eye:	n/a
15	chr1:144887235-144887285	HL-60	blood:	n/a
16	chr1:144887235-144887285	HRPEpiC	eye:	n/a
17	chr1:144887235-144887285	AG09319	gingival:	n/a
18	chr1:144887235-144887285	BJ	skin:	n/a
19	chr1:144887235-144887285	SK-N-SH_RA	brain:	n/a
20	chr1:144887235-144887285	Hela-S3	cervix:	n/a
21	chr1:144887235-144887285	U87	brain:	n/a
22	chr1:144887235-144887285	IMR90	lung:	fetal
23	chr1:144887235-144887285	HIPEpiC	eye:	n/a
24	chr1:144887235-144887285	HRE	kidney:	n/a
25	chr1:144887235-144887285	NT2-D1	testis:	n/a
26	chr1:144887235-144887285	LNCaP	prostate:	n/a
27	chr1:144887235-144887285	HAEpiC	amniotic membrane:	n/a
28	chr1:144887235-144887285	CMK	blood:	n/a
29	chr1:144887235-144887285	HCT-116	colon:	n/a
30	chr1:144887235-144887285	HEK293	kidney:	embryo
31	chr1:144887235-144887285	HRCEpiC	kidney:	n/a
32	chr1:144887235-144887285	PANC-1	pancreas:	n/a
33	chr1:144887235-144887285	HCPEpiC	choroid plexus:	n/a
34	chr1:144887235-144887285	HPAEpiC	pulmonary alveolar:	n/a
35	chr1:144887235-144887285	H1-hESC	embryonic stem cell:	embryo
36	chr1:144887235-144887285	NH-A	brain:	n/a
37	chr1:144887235-144887285	HCF	heart:	n/a
38	chr1:144887235-144887285	NB4	blood:	n/a
39	chr1:144887235-144887285	GM19239	blood:	n/a
40	chr1:144887235-144887285	SK-N-MC	brain:	n/a
41	chr1:144887235-144887285	K562	blood:	n/a
42	chr1:144887235-144887285	BE2_C	brain:	n/a
43	chr1:144887235-144887285	AG10803	skin:	n/a
44	chr1:144887235-144887285	AG04450	lung:	fetal
45	chr1:144887235-144887285	HEEpiC	esophagus:	n/a
46	chr1:144887235-144887285	HCM	heart:	n/a
47	chr1:144887235-144887285	HMEC	breast:	n/a
48	chr1:144887235-144887285	Jurkat	blood:	n/a
49	chr1:144887235-144887285	Caco-2	colon:	n/a
50	chr1:144887235-144887285	RPTEC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:144886541..144889030-chr1:144932018..144933743,3	MCF-7	breast:
2	chr1:17045982..17048017-chr1:144885102..144888081,2	K562	blood:
3	chr1:17046027..17047625-chr1:144886603..144888109,2	MCF-7	breast:
4	chr1:144873922..144875453-chr1:144885951..144887655,2	MCF-7	breast:
5	chr1:144881667..144883836-chr1:144885018..144890367,4	K562	blood:
6	chr1:144861814..144863936-chr1:144885385..144887357,2	MCF-7	breast:

No data

Variant related genes	Relation type
PDE4DIP	TF binding region
PDE4DIP	CpG island
ENSG00000268869	Chromatin interaction
ENSG00000178104	Chromatin interaction
ENSG00000254913	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014985	chr1:144007818-144949963	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
2	esv1828275	chr1:144274482-145098718	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
3	nsv1001693	chr1:144471974-145290292	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	311 gene(s)	inside rSNPs	diseases
4	nsv872210	chr1:144617179-144924792	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	esv3359519	chr1:144674517-144950252	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	esv3493993	chr1:144674667-144950191	Strong transcription ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv3493994	chr1:144674667-144950191	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv1830469	chr1:144679113-145320996	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
9	nsv436611	chr1:144709882-144978624	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv435736	chr1:144709964-144987027	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv946244	chr1:144811539-144897508	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	nsv831315	chr1:144813808-144962476	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
13	nsv872211	chr1:144828599-144894697	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	esv2761854	chr1:144832255-144921857	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
15	esv2630464	chr1:144841079-144893666	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
16	nsv872212	chr1:144850451-145073750	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
17	nsv872213	chr1:144865454-145033984	Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
18	nsv1009283	chr1:144865627-144950969	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
19	nsv1005230	chr1:144865627-145151820	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
20	esv1828244	chr1:144865627-145243316	Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
21	nsv469838	chr1:144869935-145009137	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
22	nsv482650	chr1:144869935-145009137	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
23	nsv471603	chr1:144869936-145009137	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
24	esv2753760	chr1:144873327-145041016	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
25	esv2753260	chr1:144873327-145129144	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
26	nsv2	chr1:144874979-144913548	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
27	nsv2633	chr1:144874979-144913548	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
28	nsv872214	chr1:144875799-145195645	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
29	nsv1009955	chr1:144880316-144935874	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
30	esv1010993	chr1:144881391-144919679	ZNF genes & repeats Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
31	nsv1000251	chr1:144884237-144949963	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
32	nsv8058	chr1:144885768-144890168	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
33	nsv821620	chr1:144885908-145095806	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
34	esv1805129	chr1:144886198-144889137	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144850000-144894000	Strong transcription	Stomach Smooth Muscle	stomach
2	chr1:144850400-144894200	Strong transcription	Brain Germinal Matrix	brain
3	chr1:144852200-144913200	Weak transcription	Stomach Mucosa	stomach
4	chr1:144860200-144888400	Strong transcription	Fetal Muscle Leg	muscle
5	chr1:144866800-144888000	Strong transcription	Fetal Muscle Trunk	muscle
6	chr1:144868600-144892400	Weak transcription	Fetal Thymus	thymus
7	chr1:144869400-144905000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:144874600-144901600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:144874800-144887600	Weak transcription	Dnd41	blood
10	chr1:144874800-144906600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:144875000-144891400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:144875000-144893600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:144875000-144911000	Weak transcription	Thymus	Thymus
14	chr1:144876800-144892400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:144877000-144890200	Weak transcription	Small Intestine	intestine
16	chr1:144877400-144902200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:144881000-144891800	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:144881200-144890800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:144881400-144890600	Weak transcription	Fetal Lung	lung
20	chr1:144881400-144891000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:144881400-144904800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr1:144882000-144892600	Weak transcription	HepG2	liver
23	chr1:144882600-144891800	Weak transcription	Pancreas	Pancrea
24	chr1:144882800-144887400	Weak transcription	HMEC	breast
25	chr1:144882800-144887800	Weak transcription	Gastric	stomach
26	chr1:144883000-144887800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:144883000-144890000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:144883000-144890200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:144883000-144890200	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr1:144883000-144890400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:144883000-144891800	Weak transcription	Spleen	Spleen
32	chr1:144883000-144892400	Weak transcription	Esophagus	oesophagus
33	chr1:144883000-144893200	Weak transcription	Fetal Intestine Small	intestine
34	chr1:144883000-144902600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr1:144883000-144902800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:144883000-144911600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:144883200-144889400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr1:144883200-144890000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:144883200-144890200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:144883200-144890200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:144883200-144890800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr1:144883200-144891000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:144883200-144891800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr1:144883200-144902600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:144883600-144890400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:144883600-144892200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr1:144883600-144893200	Weak transcription	Fetal Kidney	kidney
48	chr1:144883800-144887600	Weak transcription	Fetal Heart	heart
49	chr1:144883800-144889200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr1:144884200-144892200	Weak transcription	Ovary	ovary

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