Variant report

Variant	rs587757697
Chromosome Location	chr1:150948029-150948030
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:16)
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	UBTF	chr1:150945726-150948108	K562	blood:	n/a	n/a
2	MAZ	chr1:150945740-150948029	IMR90	lung:	n/a	chr1:150947366-150947376 chr1:150946655-150946664
3	POLR2A	chr1:150947691-150948068	K562	blood:	n/a	n/a
4	POLR2A	chr1:150945109-150948108	K562	blood:	n/a	n/a
5	MAX	chr1:150947644-150948038	K562	blood:	n/a	n/a
6	POLR2A	chr1:150945760-150950424	K562	blood:	n/a	n/a
7	UBTF	chr1:150946058-150948056	K562	blood:	n/a	n/a
8	MXI1	chr1:150942976-150948211	SK-N-SH	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:150948024-150948074	MCF-7	breast:	n/a
2	chr1:150948024-150948074	SK-N-MC	brain:	n/a
3	chr1:150948024-150948074	GM06990	blood:	n/a
4	chr1:150948024-150948074	GM19239	blood:	n/a
5	chr1:150948024-150948074	GM12878	blood:	n/a
6	chr1:150948024-150948074	K562	blood:	n/a
7	chr1:150948024-150948074	HEK293	kidney:	embryo
8	chr1:150948024-150948074	HEEpiC	esophagus:	n/a
9	chr1:150948024-150948074	HCM	heart:	n/a
10	chr1:150948024-150948074	A549	lung:	n/a
11	chr1:150948024-150948074	NT2-D1	testis:	n/a
12	chr1:150948024-150948074	AG10803	skin:	n/a
13	chr1:150948024-150948074	HL-60	blood:	n/a
14	chr1:150948024-150948074	GM12891	blood:	n/a
15	chr1:150948024-150948074	Hepatocyte	liver:	n/a
16	chr1:150948024-150948074	AG09309	skin:	n/a
17	chr1:150948024-150948074	MCF10A-Er-Src	breast:	n/a
18	chr1:150948024-150948074	NB4	blood:	n/a
19	chr1:150948024-150948074	BJ	skin:	n/a
20	chr1:150948024-150948074	HRCEpiC	kidney:	n/a
21	chr1:150948024-150948074	HCF	heart:	n/a
22	chr1:150948024-150948074	AG09319	gingival:	n/a
23	chr1:150948024-150948074	HUVEC	blood vessel:	n/a
24	chr1:150948024-150948074	IMR90	lung:	fetal
25	chr1:150948024-150948074	T-47D	breast:	n/a
26	chr1:150948024-150948074	SAEC	small airway:	n/a
27	chr1:150948024-150948074	HRE	kidney:	n/a
28	chr1:150948024-150948074	Caco-2	colon:	n/a
29	chr1:150948024-150948074	ECC-1	luminal epithelium:	n/a
30	chr1:150948024-150948074	Jurkat	blood:	n/a
31	chr1:150948024-150948074	GM12892	blood:	n/a
32	chr1:150948024-150948074	ProgFib	skin:	n/a
33	chr1:150948024-150948074	HNPCEpiC	eye:	n/a
34	chr1:150948024-150948074	BE2_C	brain:	n/a
35	chr1:150948024-150948074	AG04450	lung:	fetal
36	chr1:150948024-150948074	CMK	blood:	n/a
37	chr1:150948024-150948074	PFSK-1	brain:	n/a
38	chr1:150948024-150948074	NHDF-neo	bronchial:	n/a
39	chr1:150948024-150948074	SK-N-SH	brain:	n/a
40	chr1:150948024-150948074	HAEpiC	amniotic membrane:	n/a
41	chr1:150948024-150948074	Hela-S3	cervix:	n/a
42	chr1:150948024-150948074	H1-hESC	embryonic stem cell:	embryo
43	chr1:150948024-150948074	SK-N-SH_RA	brain:	n/a
44	chr1:150948024-150948074	HepG2	liver:	n/a
45	chr1:150948024-150948074	HIPEpiC	eye:	n/a
46	chr1:150948024-150948074	HPAEpiC	pulmonary alveolar:	n/a
47	chr1:150948024-150948074	PANC-1	pancreas:	n/a
48	chr1:150948024-150948074	HMEC	breast:	n/a
49	chr1:150948024-150948074	HCPEpiC	choroid plexus:	n/a
50	chr1:150948024-150948074	AG04449	skin:	fetal

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150946206..150948952-chr1:151031959..151033620,2	K562	blood:
2	chr1:150942078..150949693-chr1:150976791..150984782,24	MCF-7	breast:
3	chr1:150897410..150900366-chr1:150947492..150952156,4	K562	blood:
4	chr1:150944222..150949507-chr1:150975860..150982521,8	K562	blood:
5	chr1:150897410..150899179-chr1:150947492..150949288,2	K562	blood:
6	chr1:150945380..150948952-chr1:151032100..151034454,3	K562	blood:
7	chr1:150944409..150948293-chr1:150968315..150970666,3	MCF-7	breast:
8	chr1:150667811..150671175-chr1:150944483..150949055,4	MCF-7	breast:
9	chr1:150944568..150948169-chr1:151041647..151044581,4	MCF-7	breast:
10	chr1:150847696..150850504-chr1:150946094..150948149,2	K562	blood:
11	chr1:150943930..150948676-chr1:151041268..151044275,5	MCF-7	breast:
12	chr1:150945812..150948969-chr1:150979293..150982183,4	K562	blood:
13	chr1:150846616..150850276-chr1:150942456..150948926,7	MCF-7	breast:
14	chr1:150205150..150208917-chr1:150946080..150950396,4	MCF-7	breast:
15	chr1:149859214..149861702-chr1:150947048..150949834,2	MCF-7	breast:
16	chr1:150802146..150804523-chr1:150946488..150948912,2	MCF-7	breast:

No data

Variant related genes	Relation type
CERS2	TF binding region
CERS2	CpG island
ENSG00000143437	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000143457	Chromatin interaction
ENSG00000143379	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000178096	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv1008496	chr1:150845827-150970656	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv522317	chr1:150933723-150974162	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
6	esv3405761	chr1:150945953-150948501	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr1:150945800-150948200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr1:150945800-150948400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr1:150946000-150948200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:150946000-150948200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr1:150946000-150948200	Active TSS	HSMM	muscle
6	chr1:150946000-150948600	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr1:150946200-150948200	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr1:150946200-150948200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:150946200-150948200	Active TSS	Brain Cingulate Gyrus	brain
10	chr1:150946200-150948200	Active TSS	Colon Smooth Muscle	Colon
11	chr1:150946200-150948400	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr1:150946400-150948200	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr1:150946400-150948200	Active TSS	Brain Germinal Matrix	brain
14	chr1:150946400-150948200	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr1:150946400-150948200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:150946400-150948200	Active TSS	Brain Substantia Nigra	brain
17	chr1:150946400-150948600	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr1:150946600-150948200	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr1:150946600-150948600	Active TSS	Fetal Brain Female	brain
20	chr1:150946800-150948800	Active TSS	Stomach Smooth Muscle	stomach
21	chr1:150947400-150948800	Enhancers	Fetal Brain Male	brain
22	chr1:150947600-150948200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:150947600-150948200	Flanking Active TSS	Dnd41	blood
24	chr1:150947600-150949800	Weak transcription	Gastric	stomach
25	chr1:150947800-150948200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
26	chr1:150947800-150948200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:150947800-150948200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr1:150947800-150948200	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr1:150947800-150948200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr1:150947800-150948200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr1:150947800-150948200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr1:150947800-150948200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:150947800-150948200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:150947800-150948200	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr1:150947800-150948200	Enhancers	Fetal Heart	heart
36	chr1:150947800-150948200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
37	chr1:150947800-150948200	Flanking Active TSS	GM12878-XiMat	blood
38	chr1:150947800-150949600	Enhancers	HMEC	breast
39	chr1:150947800-150949800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr1:150947800-150950400	Enhancers	Stomach Mucosa	stomach
41	chr1:150947800-150950400	Flanking Active TSS	K562	blood
42	chr1:150947800-150950400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr1:150948000-150948200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:150948000-150948200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:150948000-150948200	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr1:150948000-150948200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr1:150948000-150948200	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr1:150948000-150948200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:150948000-150948200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:150948000-150948200	Enhancers	Adipose Nuclei	Adipose

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