Variant report

Variant	rs530839997
Chromosome Location	chr8:117950443-117950444
allele	C/T
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	POLR2A	chr8:117949985-117951195	H1-hESC	embryonic stem cell:	n/a	n/a
2	YY1	chr8:117950170-117950689	H1-hESC	embryonic stem cell:	n/a	chr8:117950395-117950404
3	CTCF	chr8:117950440-117950590	GM12869	blood:	n/a	n/a
4	POLR2A	chr8:117949982-117951070	U87	brain:	n/a	n/a
5	YY1	chr8:117949948-117951111	H1-hESC	embryonic stem cell:	n/a	chr8:117951002-117951013 chr8:117950395-117950404 chr8:117951001-117951010
6	E2F6	chr8:117950252-117951162	H1-hESC	embryonic stem cell:	n/a	chr8:117951001-117951010 chr8:117950787-117950802
7	POLR2A	chr8:117950407-117951006	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr8:117950362-117950929	U87	brain:	n/a	n/a
9	MAX	chr8:117950371-117951060	ECC-1	luminal epithelium:	n/a	chr8:117950999-117951009 chr8:117950397-117950407
10	POLR2A	chr8:117950252-117951064	U87	brain:	n/a	n/a
11	POLR2A	chr8:117950364-117951046	PFSK-1	brain:	n/a	n/a
12	TBP	chr8:117950252-117951065	H1-hESC	embryonic stem cell:	n/a	n/a
13	ELF1	chr8:117950309-117950719	GM12878	blood:	n/a	n/a
14	TCF12	chr8:117950410-117950979	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr8:117950438-117950896	Gliobla	brain:	n/a	n/a
16	MAX	chr8:117950438-117950955	A549	lung:	n/a	n/a
17	HA-E2F1	chr8:117949690-117951208	MCF-7	breast:	n/a	chr8:117951001-117951010
18	MAX	chr8:117950404-117951267	ECC-1	luminal epithelium:	n/a	chr8:117950999-117951009
19	ZNF143	chr8:117950418-117951184	H1-hESC	embryonic stem cell:	n/a	chr8:117950994-117951012
20	EP300	chr8:117950361-117951097	ECC-1	luminal epithelium:	n/a	n/a
21	RAD21	chr8:117950423-117950820	ECC-1	luminal epithelium:	n/a	n/a
22	MAX	chr8:117950157-117951137	MCF-7	breast:	n/a	chr8:117950999-117951009 chr8:117950397-117950407
23	MAX	chr8:117950436-117950726	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr8:117950438-117950846	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr8:117950232-117950983	H1-hESC	embryonic stem cell:	n/a	chr8:117950397-117950407
26	POLR2A	chr8:117950428-117950844	MCF10A-Er-Src	breast:	n/a	n/a
27	EGR1	chr8:117950316-117950503	K562	blood:	n/a	chr8:117950393-117950406 chr8:117950394-117950403 chr8:117950393-117950403 chr8:117950393-117950406 chr8:117950393-117950406 chr8:117950392-117950407 chr8:117950393-117950406 chr8:117950392-117950406
28	POLR2A	chr8:117950323-117950992	MCF-7	breast:	n/a	n/a
29	TAF1	chr8:117950067-117951118	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr8:117950149-117951068	H1-hESC	embryonic stem cell:	n/a	n/a
31	ZNF263	chr8:117949825-117951164	HEK293-T-REx	kidney:	n/a	chr8:117950282-117950291 chr8:117951043-117951052
32	SIN3A	chr8:117950407-117950963	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr8:117950399-117950973	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTBP2	chr8:117950435-117951067	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr8:117950362-117950916	U87	brain:	n/a	n/a
36	TAF1	chr8:117950439-117950985	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr8:117950373-117951025	A549	lung:	n/a	chr8:117950999-117951009 chr8:117950397-117950407
38	NANOG	chr8:117950156-117950814	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr8:117950395-117950777	GM12892	blood:	n/a	n/a
40	RAD21	chr8:117950427-117950943	H1-hESC	embryonic stem cell:	n/a	n/a
41	MAX	chr8:117950361-117951064	H1-hESC	embryonic stem cell:	n/a	chr8:117950999-117951009 chr8:117950397-117950407
42	RAD21	chr8:117950436-117950842	H1-hESC	embryonic stem cell:	n/a	n/a
43	EGR1	chr8:117950236-117951193	MCF-7	breast:	n/a	chr8:117950393-117950406 chr8:117950394-117950403 chr8:117950393-117950403 chr8:117950393-117950406 chr8:117951001-117951011 chr8:117950393-117950406 chr8:117950392-117950407 chr8:117950996-117951009 chr8:117950393-117950406 chr8:117950392-117950406 chr8:117951002-117951015 chr8:117950999-117951009
44	POLR2A	chr8:117950279-117951033	MCF-7	breast:	n/a	n/a
45	POLR2A	chr8:117950007-117950966	PFSK-1	brain:	n/a	n/a
46	E2F6	chr8:117950375-117951016	A549	lung:	n/a	chr8:117951001-117951010 chr8:117950787-117950802

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:117950395-117950445	HCT-116	colon:	n/a
2	chr8:117950395-117950445	SAEC	small airway:	n/a
3	chr8:117950395-117950445	MCF10A-Er-Src	breast:	n/a
4	chr8:117950395-117950445	BJ	skin:	n/a
5	chr8:117950395-117950445	CMK	blood:	n/a
6	chr8:117950395-117950445	LNCaP	prostate:	n/a
7	chr8:117950395-117950445	NH-A	brain:	n/a
8	chr8:117950395-117950445	PrEC	prostate:	n/a
9	chr8:117950395-117950445	HCM	heart:	n/a
10	chr8:117950395-117950445	PANC-1	pancreas:	n/a
11	chr8:117950395-117950445	NHDF-neo	bronchial:	n/a
12	chr8:117950395-117950445	AG04449	skin:	fetal
13	chr8:117950395-117950445	T-47D	breast:	n/a
14	chr8:117950395-117950445	ProgFib	skin:	n/a
15	chr8:117950395-117950445	PFSK-1	brain:	n/a
16	chr8:117950395-117950445	AG10803	skin:	n/a
17	chr8:117950395-117950445	NT2-D1	testis:	n/a
18	chr8:117950395-117950445	SK-N-MC	brain:	n/a
19	chr8:117950395-117950445	Hepatocyte	liver:	n/a
20	chr8:117950395-117950445	K562	blood:	n/a
21	chr8:117950395-117950445	SK-N-SH_RA	brain:	n/a
22	chr8:117950395-117950445	HRCEpiC	kidney:	n/a
23	chr8:117950395-117950445	GM06990	blood:	n/a
24	chr8:117950395-117950445	HNPCEpiC	eye:	n/a
25	chr8:117950395-117950445	HUVEC	blood vessel:	n/a
26	chr8:117950395-117950445	HRE	kidney:	n/a
27	chr8:117950395-117950445	SK-N-SH	brain:	n/a
28	chr8:117950395-117950445	HCPEpiC	choroid plexus:	n/a
29	chr8:117950395-117950445	SKMC	muscle:	n/a
30	chr8:117950395-117950445	GM12878	blood:	n/a
31	chr8:117950395-117950445	Hela-S3	cervix:	n/a
32	chr8:117950395-117950445	IMR90	lung:	fetal
33	chr8:117950395-117950445	AG09319	gingival:	n/a
34	chr8:117950395-117950445	HMEC	breast:	n/a
35	chr8:117950395-117950445	Jurkat	blood:	n/a
36	chr8:117950395-117950445	GM12892	blood:	n/a
37	chr8:117950395-117950445	MCF-7	breast:	n/a
38	chr8:117950395-117950445	HRPEpiC	eye:	n/a
39	chr8:117950395-117950445	NHBE	bronchial:	n/a
40	chr8:117950395-117950445	HCF	heart:	n/a
41	chr8:117950395-117950445	GM12891	blood:	n/a
42	chr8:117950395-117950445	HEK293	kidney:	embryo
43	chr8:117950395-117950445	U87	brain:	n/a
44	chr8:117950395-117950445	AoSMC	blood vessel:	n/a
45	chr8:117950395-117950445	HEEpiC	esophagus:	n/a
46	chr8:117950395-117950445	AG04450	lung:	fetal
47	chr8:117950395-117950445	BE2_C	brain:	n/a
48	chr8:117950395-117950445	HL-60	blood:	n/a
49	chr8:117950395-117950445	ECC-1	luminal epithelium:	n/a
50	chr8:117950395-117950445	AG09309	skin:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAD21-1	chr8:117947899-117950697	NONHSAT128383

Variant related genes	Relation type
AARD	TF binding region
AARD	CpG island

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv891409	chr8:117948986-117972064	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117948000-117950600	Weak transcription	NHEK	skin
2	chr8:117949600-117951000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
3	chr8:117949600-117951200	Active TSS	Colon Smooth Muscle	Colon
4	chr8:117949800-117950600	Bivalent/Poised TSS	Fetal Lung	lung
5	chr8:117949800-117950800	Enhancers	Gastric	stomach
6	chr8:117949800-117951200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr8:117949800-117951200	Active TSS	Rectal Smooth Muscle	rectum
8	chr8:117949800-117951400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr8:117949800-117951400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr8:117949800-117951400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:117949800-117951400	Active TSS	Stomach Smooth Muscle	stomach
12	chr8:117950000-117950600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:117950000-117950800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:117950000-117951000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:117950000-117951000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
16	chr8:117950000-117951000	Active TSS	Muscle Satellite Cultured Cells	--
17	chr8:117950000-117951200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr8:117950000-117951200	Active TSS	H9 Cell Line	embryonic stem cell
19	chr8:117950000-117951200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:117950000-117951200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:117950000-117951200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:117950000-117951200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:117950000-117951200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
24	chr8:117950000-117951200	Active TSS	Fetal Kidney	kidney
25	chr8:117950000-117951200	Active TSS	HMEC	breast
26	chr8:117950000-117951200	Active TSS	NH-A	brain
27	chr8:117950000-117951400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:117950000-117951400	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr8:117950000-117951400	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr8:117950000-117952000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:117950200-117950600	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
32	chr8:117950200-117950600	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
33	chr8:117950200-117950600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
34	chr8:117950200-117950600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:117950200-117950600	Active TSS	Right Ventricle	heart
36	chr8:117950200-117950600	Bivalent/Poised TSS	NHDF-Ad	bronchial
37	chr8:117950200-117950800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:117950200-117950800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
39	chr8:117950200-117950800	Bivalent/Poised TSS	Placenta	Placenta
40	chr8:117950200-117950800	Bivalent/Poised TSS	Psoas Muscle	Psoas
41	chr8:117950200-117950800	Bivalent/Poised TSS	HUVEC	blood vessel
42	chr8:117950200-117950800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
43	chr8:117950200-117951000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr8:117950200-117951000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:117950200-117951000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:117950200-117951000	Bivalent/Poised TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr8:117950200-117951000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr8:117950200-117951000	Active TSS	Aorta	Aorta
49	chr8:117950200-117951000	Active TSS	Brain Hippocampus Middle	brain
50	chr8:117950200-117951000	Active TSS	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links