Variant report

Variant	rs540464502
Chromosome Location	chr8:63999205-63999206
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr8:63998121-63999294	ECC-1	luminal epithelium:	n/a	chr8:63998228-63998237
2	MAX	chr8:63998900-63999216	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr8:63998315-63999259	A549	lung:	n/a	n/a
4	MAX	chr8:63998358-63999259	A549	lung:	n/a	n/a
5	MAX	chr8:63998448-63999256	ECC-1	luminal epithelium:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:63999202-63999252	HCM	heart:	n/a
2	chr8:63999202-63999252	LNCaP	prostate:	n/a
3	chr8:63999202-63999252	SAEC	small airway:	n/a
4	chr8:63999202-63999252	HIPEpiC	eye:	n/a
5	chr8:63999202-63999252	HRCEpiC	kidney:	n/a
6	chr8:63999202-63999252	HCPEpiC	choroid plexus:	n/a
7	chr8:63999202-63999252	AG10803	skin:	n/a
8	chr8:63999202-63999252	NHBE	bronchial:	n/a
9	chr8:63999202-63999252	Jurkat	blood:	n/a
10	chr8:63999202-63999252	SK-N-SH	brain:	n/a
11	chr8:63999202-63999252	SK-N-MC	brain:	n/a
12	chr8:63999202-63999252	AG09319	gingival:	n/a
13	chr8:63999202-63999252	SK-N-SH_RA	brain:	n/a
14	chr8:63999202-63999252	K562	blood:	n/a
15	chr8:63999202-63999252	HCT-116	colon:	n/a
16	chr8:63999202-63999252	HepG2	liver:	n/a
17	chr8:63999202-63999252	IMR90	lung:	fetal
18	chr8:63999202-63999252	ovcar-3	ovarian:	n/a
19	chr8:63999202-63999252	HEEpiC	esophagus:	n/a
20	chr8:63999202-63999252	NB4	blood:	n/a
21	chr8:63999202-63999252	HMEC	breast:	n/a
22	chr8:63999202-63999252	T-47D	breast:	n/a
23	chr8:63999202-63999252	HUVEC	blood vessel:	n/a
24	chr8:63999202-63999252	BJ	skin:	n/a
25	chr8:63999202-63999252	NT2-D1	testis:	n/a
26	chr8:63999202-63999252	HEK293	kidney:	embryo
27	chr8:63999202-63999252	NHDF-neo	bronchial:	n/a
28	chr8:63999202-63999252	GM19239	blood:	n/a
29	chr8:63999202-63999252	CMK	blood:	n/a
30	chr8:63999202-63999252	PANC-1	pancreas:	n/a
31	chr8:63999202-63999252	RPTEC	kidney:	n/a
32	chr8:63999202-63999252	A549	lung:	n/a
33	chr8:63999202-63999252	ProgFib	skin:	n/a
34	chr8:63999202-63999252	AG09309	skin:	n/a
35	chr8:63999202-63999252	Hela-S3	cervix:	n/a
36	chr8:63999202-63999252	NH-A	brain:	n/a
37	chr8:63999202-63999252	MCF-7	breast:	n/a
38	chr8:63999202-63999252	AoSMC	blood vessel:	n/a
39	chr8:63999202-63999252	ECC-1	luminal epithelium:	n/a
40	chr8:63999202-63999252	HAEpiC	amniotic membrane:	n/a
41	chr8:63999202-63999252	GM12878	blood:	n/a
42	chr8:63999202-63999252	HL-60	blood:	n/a
43	chr8:63999202-63999252	HRPEpiC	eye:	n/a
44	chr8:63999202-63999252	HNPCEpiC	eye:	n/a
45	chr8:63999202-63999252	GM06990	blood:	n/a
46	chr8:63999202-63999252	Hepatocyte	liver:	n/a
47	chr8:63999202-63999252	U87	brain:	n/a
48	chr8:63999202-63999252	AG04450	lung:	fetal
49	chr8:63999202-63999252	AG04449	skin:	fetal
50	chr8:63999202-63999252	Caco-2	colon:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:63995378..63997013-chr8:63999187..64001966,2	K562	blood:
2	chr8:63949699..63952423-chr8:63997523..63999992,2	K562	blood:

No data

Variant related genes	Relation type
TTPA	TF binding region
TTPA	CpG island
ENSG00000137563	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	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv465701	chr8:63951237-64080486	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv611448	chr8:63951237-64080486	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv3373017	chr8:63989447-64014250	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3445521	chr8:63989447-64017270	Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3445164	chr8:63997798-63999646	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63997600-64000000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr8:63997800-63999400	Active TSS	Aorta	Aorta
3	chr8:63997800-63999600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:63998000-63999400	Active TSS	Right Atrium	heart
5	chr8:63998800-63999400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr8:63999000-63999400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:63999000-63999400	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr8:63999200-63999400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr8:63999200-63999400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:63999200-63999400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:63999200-63999400	Bivalent Enhancer	Fetal Intestine Large	intestine
12	chr8:63999200-63999400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr8:63999200-63999400	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr8:63999200-63999600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:63999200-64000200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:63999200-64000400	Weak transcription	Adipose Nuclei	Adipose
17	chr8:63999200-64001200	Weak transcription	Placenta	Placenta
18	chr8:63999200-64001600	Weak transcription	Pancreas	Pancrea
19	chr8:63999200-64002400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:63999200-64002800	Enhancers	Liver	Liver

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