Variant report

Variant	rs559968861
Chromosome Location	chr1:151810897-151810898
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:122)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:151810384-151810903	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAZ	chr1:151810772-151811018	GM12878	blood:	n/a	n/a
3	TCF12	chr1:151810662-151811226	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:151810876-151811003	HUVEC	blood vessel:	n/a	n/a
5	EP300	chr1:151810879-151811058	GM12878	blood:	n/a	n/a
6	TCF3	chr1:151810694-151810923	GM12878	blood:	n/a	n/a
7	BHLHE40	chr1:151810621-151811469	GM12878	blood:	n/a	n/a
8	EGR1	chr1:151810771-151810960	GM12878	blood:	n/a	chr1:151810890-151810904
9	MXI1	chr1:151810710-151811500	GM12878	blood:	n/a	n/a
10	EBF1	chr1:151810636-151811059	GM12878	blood:	n/a	n/a
11	TCF12	chr1:151810757-151811000	GM12878	blood:	n/a	n/a
12	EBF1	chr1:151810789-151811138	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:151810530-151811078	H1-hESC	embryonic stem cell:	n/a	n/a
14	ELF1	chr1:151810647-151811035	GM12878	blood:	n/a	n/a
15	CTBP2	chr1:151810458-151811711	H1-hESC	embryonic stem cell:	n/a	n/a
16	EGR1	chr1:151810739-151810990	GM12878	blood:	n/a	chr1:151810890-151810904
17	PAX5	chr1:151810576-151810909	GM12892	blood:	n/a	n/a
18	MAX	chr1:151810520-151811502	GM12878	blood:	n/a	n/a
19	MAX	chr1:151810349-151811698	H1-hESC	embryonic stem cell:	n/a	n/a
20	TCF3	chr1:151810626-151811361	GM12878	blood:	n/a	n/a
21	E2F6	chr1:151810169-151812785	H1-hESC	embryonic stem cell:	n/a	chr1:151811992-151812003 chr1:151812264-151812273 chr1:151811542-151811551
22	CHD2	chr1:151810735-151810928	GM12878	blood:	n/a	n/a
23	ELF1	chr1:151810413-151811645	GM12878	blood:	n/a	n/a
24	RUNX3	chr1:151810705-151810992	GM12878	blood:	n/a	n/a
25	RCOR1	chr1:151810815-151811230	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:151810893-151810943	AG10803	skin:	n/a
2	chr1:151810887-151810937	AG10803	skin:	n/a
3	chr1:151810887-151810937	MCF10A-Er-Src	breast:	n/a
4	chr1:151810893-151810943	SAEC	small airway:	n/a
5	chr1:151810887-151810937	HAEpiC	amniotic membrane:	n/a
6	chr1:151810887-151810937	AG09319	gingival:	n/a
7	chr1:151810887-151810937	AG04450	lung:	fetal
8	chr1:151810887-151810937	IMR90	lung:	fetal
9	chr1:151810893-151810943	HMEC	breast:	n/a
10	chr1:151810887-151810937	HIPEpiC	eye:	n/a
11	chr1:151810887-151810937	Jurkat	blood:	n/a
12	chr1:151810893-151810943	IMR90	lung:	fetal
13	chr1:151810893-151810943	AG09309	skin:	n/a
14	chr1:151810893-151810943	Caco-2	colon:	n/a
15	chr1:151810887-151810937	Hepatocyte	liver:	n/a
16	chr1:151810893-151810943	HUVEC	blood vessel:	n/a
17	chr1:151810887-151810937	HRCEpiC	kidney:	n/a
18	chr1:151810893-151810943	RPTEC	kidney:	n/a
19	chr1:151810893-151810943	SKMC	muscle:	n/a
20	chr1:151810887-151810937	SAEC	small airway:	n/a
21	chr1:151810887-151810937	GM12891	blood:	n/a
22	chr1:151810893-151810943	SK-N-MC	brain:	n/a
23	chr1:151810893-151810943	MCF-7	breast:	n/a
24	chr1:151810887-151810937	RPTEC	kidney:	n/a
25	chr1:151810887-151810937	GM12878	blood:	n/a
26	chr1:151810893-151810943	HRCEpiC	kidney:	n/a
27	chr1:151810893-151810943	PFSK-1	brain:	n/a
28	chr1:151810887-151810937	NHDF-neo	bronchial:	n/a
29	chr1:151810887-151810937	K562	blood:	n/a
30	chr1:151810887-151810937	BJ	skin:	n/a
31	chr1:151810893-151810943	K562	blood:	n/a
32	chr1:151810893-151810943	HIPEpiC	eye:	n/a
33	chr1:151810893-151810943	ECC-1	luminal epithelium:	n/a
34	chr1:151810893-151810943	PANC-1	pancreas:	n/a
35	chr1:151810893-151810943	U87	brain:	n/a
36	chr1:151810893-151810943	Hepatocyte	liver:	n/a
37	chr1:151810893-151810943	Hela-S3	cervix:	n/a
38	chr1:151810893-151810943	BJ	skin:	n/a
39	chr1:151810887-151810937	HCPEpiC	choroid plexus:	n/a
40	chr1:151810887-151810937	Hela-S3	cervix:	n/a
41	chr1:151810893-151810943	NB4	blood:	n/a
42	chr1:151810887-151810937	HL-60	blood:	n/a
43	chr1:151810887-151810937	Caco-2	colon:	n/a
44	chr1:151810887-151810937	HRPEpiC	eye:	n/a
45	chr1:151810887-151810937	NH-A	brain:	n/a
46	chr1:151810893-151810943	HEEpiC	esophagus:	n/a
47	chr1:151810887-151810937	PrEC	prostate:	n/a
48	chr1:151810893-151810943	GM12892	blood:	n/a
49	chr1:151810893-151810943	ovcar-3	ovarian:	n/a
50	chr1:151810893-151810943	HAEpiC	amniotic membrane:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151510584..151515702-chr1:151808389..151812312,7	MCF-7	breast:
2	chr1:151509575..151514119-chr1:151809649..151812293,5	MCF-7	breast:
3	chr1:151804539..151806807-chr1:151808292..151812161,4	K562	blood:
4	chr1:19410890..19413871-chr1:151808457..151811077,2	MCF-7	breast:
5	chr1:151734307..151737224-chr1:151809345..151813879,7	MCF-7	breast:
6	chr1:151717253..151722089-chr1:151808382..151812448,4	MCF-7	breast:
7	chr1:151810783..151812535-chr1:151860499..151863108,2	MCF-7	breast:
8	chr1:151764210..151765820-chr1:151809530..151811612,2	MCF-7	breast:
9	chr1:151430044..151432386-chr1:151809146..151811411,2	MCF-7	breast:
10	chr1:151804012..151806616-chr1:151810661..151813276,2	K562	blood:
11	chr1:151795525..151798477-chr1:151809091..151811611,2	MCF-7	breast:
12	chr1:151371973..151373501-chr1:151810861..151813533,2	MCF-7	breast:
13	chr1:151809368..151811108-chr1:151856031..151858705,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234614	TF binding region
ENSG00000234614	CpG island
ENSG00000206980	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000143365	Chromatin interaction
ENSG00000159377	Chromatin interaction
ENSG00000159445	Chromatin interaction
ENSG00000143436	Chromatin interaction
ENSG00000143450	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000232536	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516369	chr1:151780177-151820324	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1804657	chr1:151784152-151825756	Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1008033	chr1:151785029-151843154	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	esv3360539	chr1:151809753-151812301	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151802800-151811000	Enhancers	Placenta	Placenta
2	chr1:151804600-151812000	Enhancers	Pancreas	Pancrea
3	chr1:151805600-151811200	Weak transcription	Brain Angular Gyrus	brain
4	chr1:151806200-151811000	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:151806400-151811800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:151808800-151811200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:151809000-151812000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
8	chr1:151809200-151811200	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr1:151809600-151812800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:151810000-151811000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:151810000-151818800	Weak transcription	A549	lung
12	chr1:151810200-151811000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:151810200-151811200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr1:151810200-151811200	Enhancers	Spleen	Spleen
15	chr1:151810200-151811600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:151810200-151812400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
17	chr1:151810200-151812600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr1:151810200-151812800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr1:151810400-151811000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
20	chr1:151810400-151811000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:151810400-151811400	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr1:151810400-151811400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:151810400-151811400	Active TSS	Aorta	Aorta
24	chr1:151810400-151811400	Bivalent/Poised TSS	Fetal Brain Female	brain
25	chr1:151810400-151811600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:151810400-151811600	Weak transcription	NHEK	skin
27	chr1:151810400-151811800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:151810400-151812400	Weak transcription	Hela-S3	cervix
29	chr1:151810400-151812600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr1:151810400-151812600	Flanking Active TSS	Right Ventricle	heart
31	chr1:151810400-151812800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr1:151810400-151812800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
33	chr1:151810400-151812800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
34	chr1:151810400-151812800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr1:151810400-151812800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:151810400-151812800	Flanking Bivalent TSS/Enh	Thymus	Thymus
37	chr1:151810400-151812800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
38	chr1:151810400-151813000	Active TSS	Brain Substantia Nigra	brain
39	chr1:151810600-151811000	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:151810600-151811000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:151810600-151811000	Bivalent/Poised TSS	Colonic Mucosa	Colon
42	chr1:151810600-151811000	Bivalent/Poised TSS	Psoas Muscle	Psoas
43	chr1:151810600-151811000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
44	chr1:151810600-151811000	Active TSS	HepG2	liver
45	chr1:151810600-151811000	Flanking Bivalent TSS/Enh	NH-A	brain
46	chr1:151810600-151811200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:151810600-151811200	Active TSS	Primary T cells from cord blood	blood
48	chr1:151810600-151811200	Active TSS	Primary T cells fromperipheralblood	blood
49	chr1:151810600-151811200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr1:151810600-151811200	Active TSS	Primary T regulatory cells fromperipheralblood	blood

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