Variant report

Variant	rs537217
Chromosome Location	chr8:103952433-103952434
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr8:103952322-103952604	H1-hESC	embryonic stem cell:	n/a	n/a
2	NANOG	chr8:103952250-103952538	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD2	chr8:103952256-103952715	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr8:103952237-103952577	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:103952396-103952446	AoSMC	blood vessel:	n/a
2	chr8:103952396-103952446	Hela-S3	cervix:	n/a
3	chr8:103952396-103952446	GM12891	blood:	n/a
4	chr8:103952396-103952446	HCT-116	colon:	n/a
5	chr8:103952396-103952446	PFSK-1	brain:	n/a
6	chr8:103952396-103952446	AG09319	gingival:	n/a
7	chr8:103952396-103952446	HUVEC	blood vessel:	n/a
8	chr8:103952396-103952446	SAEC	small airway:	n/a
9	chr8:103952396-103952446	PANC-1	pancreas:	n/a
10	chr8:103952396-103952446	IMR90	lung:	fetal
11	chr8:103952396-103952446	HRE	kidney:	n/a
12	chr8:103952396-103952446	SKMC	muscle:	n/a
13	chr8:103952396-103952446	PrEC	prostate:	n/a
14	chr8:103952396-103952446	HCM	heart:	n/a
15	chr8:103952396-103952446	HAEpiC	amniotic membrane:	n/a
16	chr8:103952396-103952446	MCF-7	breast:	n/a
17	chr8:103952396-103952446	CMK	blood:	n/a
18	chr8:103952396-103952446	U87	brain:	n/a
19	chr8:103952396-103952446	T-47D	breast:	n/a
20	chr8:103952396-103952446	BE2_C	brain:	n/a
21	chr8:103952396-103952446	GM06990	blood:	n/a
22	chr8:103952396-103952446	NT2-D1	testis:	n/a
23	chr8:103952396-103952446	Jurkat	blood:	n/a
24	chr8:103952396-103952446	HIPEpiC	eye:	n/a
25	chr8:103952396-103952446	HRCEpiC	kidney:	n/a
26	chr8:103952396-103952446	LNCaP	prostate:	n/a
27	chr8:103952396-103952446	SK-N-SH	brain:	n/a
28	chr8:103952396-103952446	HNPCEpiC	eye:	n/a
29	chr8:103952396-103952446	BJ	skin:	n/a
30	chr8:103952396-103952446	HEK293	kidney:	embryo
31	chr8:103952396-103952446	MCF10A-Er-Src	breast:	n/a
32	chr8:103952396-103952446	NB4	blood:	n/a
33	chr8:103952396-103952446	NHDF-neo	bronchial:	n/a
34	chr8:103952396-103952446	HRPEpiC	eye:	n/a
35	chr8:103952396-103952446	NH-A	brain:	n/a
36	chr8:103952396-103952446	ProgFib	skin:	n/a
37	chr8:103952396-103952446	AG09309	skin:	n/a
38	chr8:103952396-103952446	ovcar-3	ovarian:	n/a
39	chr8:103952396-103952446	H1-hESC	embryonic stem cell:	embryo
40	chr8:103952396-103952446	Caco-2	colon:	n/a
41	chr8:103952396-103952446	HCPEpiC	choroid plexus:	n/a
42	chr8:103952396-103952446	GM19239	blood:	n/a
43	chr8:103952396-103952446	NHBE	bronchial:	n/a
44	chr8:103952396-103952446	A549	lung:	n/a
45	chr8:103952396-103952446	HCF	heart:	n/a
46	chr8:103952396-103952446	K562	blood:	n/a
47	chr8:103952396-103952446	ECC-1	luminal epithelium:	n/a
48	chr8:103952396-103952446	AG04449	skin:	fetal
49	chr8:103952396-103952446	SK-N-SH_RA	brain:	n/a
50	chr8:103952396-103952446	Hepatocyte	liver:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103875533..103877919-chr8:103950749..103952905,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253320	TF binding region
ENSG00000253320	CpG island
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2668877	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2679739	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2945838	0.82[ASN][1000 genomes]
rs3018949	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs519527	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs520393	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs560038	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs575651	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs587946	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6468844	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs650987	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs651816	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs666830	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs676498	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv891246	chr8:103928940-103967694	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103932200-103959400	Weak transcription	Fetal Brain Female	brain
2	chr8:103937800-103956000	Weak transcription	Brain Hippocampus Middle	brain
3	chr8:103940200-103972600	Weak transcription	Ovary	ovary
4	chr8:103943800-103973600	Weak transcription	Fetal Kidney	kidney
5	chr8:103945000-103953200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr8:103945400-103956800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:103946800-103974000	Weak transcription	Brain Germinal Matrix	brain
8	chr8:103947600-103963400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr8:103948600-103957200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:103948800-103956800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr8:103949200-103953200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr8:103950400-103952600	Weak transcription	Placenta	Placenta
13	chr8:103950400-103961000	Weak transcription	Pancreas	Pancrea
14	chr8:103951000-103953800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr8:103951200-103953000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr8:103951400-103953600	Enhancers	GM12878-XiMat	blood
17	chr8:103951800-103952600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:103951800-103952600	Enhancers	HMEC	breast
19	chr8:103951800-103952800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr8:103951800-103953000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:103951800-103953800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr8:103952000-103952600	Enhancers	H9 Cell Line	embryonic stem cell
23	chr8:103952000-103953000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:103952000-103953000	Enhancers	Primary B cells from peripheral blood	blood
25	chr8:103952000-103953200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:103952000-103953600	Enhancers	H1 Cell Line	embryonic stem cell
27	chr8:103952000-103953800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:103952000-103953800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr8:103952200-103952600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:103952200-103952600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:103952200-103952800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:103952200-103952800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr8:103952200-103953000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr8:103952200-103953000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:103952200-103953000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr8:103952200-103953200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr8:103952400-103952600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr8:103952400-103952800	Enhancers	Primary B cells from cord blood	blood
39	chr8:103952400-103953000	Enhancers	HepG2	liver
40	chr8:103952400-103953200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:103952400-103957600	Weak transcription	Fetal Intestine Small	intestine

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