Variant report

Variant	rs371333255
Chromosome Location	chr1:223566468-223566469
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:223566447-223566497	AG09319	gingival:	n/a
2	chr1:223566447-223566497	Jurkat	blood:	n/a
3	chr1:223566447-223566497	GM06990	blood:	n/a
4	chr1:223566447-223566497	HRCEpiC	kidney:	n/a
5	chr1:223566447-223566497	GM12891	blood:	n/a
6	chr1:223566447-223566497	AG04449	skin:	fetal
7	chr1:223566447-223566497	SK-N-MC	brain:	n/a
8	chr1:223566447-223566497	CMK	blood:	n/a
9	chr1:223566447-223566497	NHDF-neo	bronchial:	n/a
10	chr1:223566447-223566497	SKMC	muscle:	n/a
11	chr1:223566447-223566497	U87	brain:	n/a
12	chr1:223566447-223566497	PFSK-1	brain:	n/a
13	chr1:223566447-223566497	PrEC	prostate:	n/a
14	chr1:223566447-223566497	AG04450	lung:	fetal
15	chr1:223566447-223566497	HL-60	blood:	n/a
16	chr1:223566447-223566497	HCM	heart:	n/a
17	chr1:223566447-223566497	HMEC	breast:	n/a
18	chr1:223566447-223566497	HUVEC	blood vessel:	n/a
19	chr1:223566447-223566497	HCF	heart:	n/a
20	chr1:223566447-223566497	ECC-1	luminal epithelium:	n/a
21	chr1:223566447-223566497	HPAEpiC	pulmonary alveolar:	n/a
22	chr1:223566447-223566497	IMR90	lung:	fetal
23	chr1:223566447-223566497	GM12892	blood:	n/a
24	chr1:223566447-223566497	PANC-1	pancreas:	n/a
25	chr1:223566447-223566497	LNCaP	prostate:	n/a
26	chr1:223566447-223566497	ovcar-3	ovarian:	n/a
27	chr1:223566447-223566497	NH-A	brain:	n/a
28	chr1:223566447-223566497	SK-N-SH	brain:	n/a
29	chr1:223566447-223566497	HIPEpiC	eye:	n/a
30	chr1:223566447-223566497	GM19239	blood:	n/a
31	chr1:223566447-223566497	HRPEpiC	eye:	n/a
32	chr1:223566447-223566497	Hepatocyte	liver:	n/a
33	chr1:223566447-223566497	HAEpiC	amniotic membrane:	n/a
34	chr1:223566447-223566497	ProgFib	skin:	n/a
35	chr1:223566447-223566497	NT2-D1	testis:	n/a
36	chr1:223566447-223566497	HepG2	liver:	n/a
37	chr1:223566447-223566497	K562	blood:	n/a
38	chr1:223566447-223566497	SK-N-SH_RA	brain:	n/a
39	chr1:223566447-223566497	BJ	skin:	n/a
40	chr1:223566447-223566497	AG10803	skin:	n/a
41	chr1:223566447-223566497	AG09309	skin:	n/a
42	chr1:223566447-223566497	A549	lung:	n/a
43	chr1:223566447-223566497	Caco-2	colon:	n/a
44	chr1:223566447-223566497	HEK293	kidney:	embryo
45	chr1:223566447-223566497	NB4	blood:	n/a
46	chr1:223566447-223566497	AoSMC	blood vessel:	n/a
47	chr1:223566447-223566497	H1-hESC	embryonic stem cell:	embryo
48	chr1:223566447-223566497	SAEC	small airway:	n/a
49	chr1:223566447-223566497	HCPEpiC	choroid plexus:	n/a
50	chr1:223566447-223566497	MCF10A-Er-Src	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223534957..223537393-chr1:223566287..223567830,2	MCF-7	breast:

No data

Variant related genes	Relation type
C1orf65	CpG island
ENSG00000143502	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv832670	chr1:223561771-223683381	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv4687	chr1:223565080-223610362	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223566000-223567000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
2	chr1:223566200-223566600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:223566200-223566600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:223566200-223566600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr1:223566200-223566600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
6	chr1:223566200-223566600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
7	chr1:223566200-223566800	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr1:223566200-223566800	Bivalent Enhancer	Fetal Intestine Small	intestine
9	chr1:223566200-223567000	Bivalent Enhancer	Fetal Brain Male	brain
10	chr1:223566200-223567000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
11	chr1:223566200-223567200	Active TSS	Brain Anterior Caudate	brain
12	chr1:223566200-223567200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
13	chr1:223566200-223567200	Bivalent/Poised TSS	NHEK	skin
14	chr1:223566400-223566600	Bivalent Enhancer	Esophagus	oesophagus
15	chr1:223566400-223566800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr1:223566400-223567000	Active TSS	Right Ventricle	heart
17	chr1:223566400-223567200	Active TSS	Ovary	ovary

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