Variant report

Variant	rs2116353
Chromosome Location	chr8:124750228-124750229
allele	C/T
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:2)
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	chr8:124750221-124750271	H1-hESC	embryonic stem cell:	embryo
2	chr8:124750221-124750271	Hepatocyte	liver:	n/a
3	chr8:124750221-124750271	HRPEpiC	eye:	n/a
4	chr8:124750221-124750271	CMK	blood:	n/a
5	chr8:124750221-124750271	HPAEpiC	pulmonary alveolar:	n/a
6	chr8:124750221-124750271	NB4	blood:	n/a
7	chr8:124750221-124750271	IMR90	lung:	fetal
8	chr8:124750221-124750271	U87	brain:	n/a
9	chr8:124750221-124750271	Caco-2	colon:	n/a
10	chr8:124750221-124750271	HCM	heart:	n/a
11	chr8:124750221-124750271	NT2-D1	testis:	n/a
12	chr8:124750221-124750271	SK-N-SH_RA	brain:	n/a
13	chr8:124750221-124750271	SKMC	muscle:	n/a
14	chr8:124750221-124750271	ProgFib	skin:	n/a
15	chr8:124750221-124750271	GM12892	blood:	n/a
16	chr8:124750221-124750271	HepG2	liver:	n/a
17	chr8:124750221-124750271	RPTEC	kidney:	n/a
18	chr8:124750221-124750271	HEK293	kidney:	embryo
19	chr8:124750221-124750271	GM06990	blood:	n/a
20	chr8:124750221-124750271	NHDF-neo	bronchial:	n/a
21	chr8:124750221-124750271	AG10803	skin:	n/a
22	chr8:124750221-124750271	Jurkat	blood:	n/a
23	chr8:124750221-124750271	SK-N-MC	brain:	n/a
24	chr8:124750221-124750271	SAEC	small airway:	n/a
25	chr8:124750221-124750271	AoSMC	blood vessel:	n/a
26	chr8:124750221-124750271	AG09309	skin:	n/a
27	chr8:124750221-124750271	ECC-1	luminal epithelium:	n/a
28	chr8:124750221-124750271	GM19239	blood:	n/a
29	chr8:124750221-124750271	HAEpiC	amniotic membrane:	n/a
30	chr8:124750221-124750271	HCPEpiC	choroid plexus:	n/a
31	chr8:124750221-124750271	LNCaP	prostate:	n/a
32	chr8:124750221-124750271	K562	blood:	n/a
33	chr8:124750221-124750271	A549	lung:	n/a
34	chr8:124750221-124750271	PrEC	prostate:	n/a
35	chr8:124750221-124750271	HRCEpiC	kidney:	n/a
36	chr8:124750221-124750271	PFSK-1	brain:	n/a
37	chr8:124750221-124750271	HMEC	breast:	n/a
38	chr8:124750221-124750271	T-47D	breast:	n/a
39	chr8:124750221-124750271	Hela-S3	cervix:	n/a
40	chr8:124750221-124750271	HIPEpiC	eye:	n/a
41	chr8:124750221-124750271	AG04449	skin:	fetal
42	chr8:124750221-124750271	AG09319	gingival:	n/a
43	chr8:124750221-124750271	HL-60	blood:	n/a
44	chr8:124750221-124750271	BE2_C	brain:	n/a
45	chr8:124750221-124750271	HRE	kidney:	n/a
46	chr8:124750221-124750271	NH-A	brain:	n/a
47	chr8:124750221-124750271	HUVEC	blood vessel:	n/a
48	chr8:124750221-124750271	MCF10A-Er-Src	breast:	n/a
49	chr8:124750221-124750271	HEEpiC	esophagus:	n/a
50	chr8:124750221-124750271	SK-N-SH	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124748655..124751535-chr8:124779405..124781112,2	MCF-7	breast:
2	chr8:124749671..124751956-chr8:124752162..124754569,2	MCF-7	breast:

No data

Variant related genes	Relation type
ANXA13	CpG island
ENSG00000176853	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10105314	0.82[MEX][hapmap]
rs11989549	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1367825	0.82[MEX][hapmap]
rs16898807	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16898809	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16898813	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2010301	0.82[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs2385505	1.00[CEU][hapmap]
rs2891800	0.80[CEU][hapmap]
rs4006384	0.81[CEU][hapmap];0.85[MEX][hapmap]
rs56247604	0.93[ASN][1000 genomes]
rs6470179	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs971649	0.82[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][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	nsv831451	chr8:124710946-124885148	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv6373	chr8:124741567-124786609	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 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	chr8:124743400-124751800	Weak transcription	Small Intestine	intestine
2	chr8:124745000-124750800	Weak transcription	Fetal Heart	heart
3	chr8:124746400-124751800	Weak transcription	Pancreas	Pancrea
4	chr8:124746800-124763600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:124747800-124750600	Enhancers	HepG2	liver
6	chr8:124748800-124750400	Enhancers	Colon Smooth Muscle	Colon
7	chr8:124749400-124758000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:124749600-124751800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:124749800-124751400	Weak transcription	Liver	Liver
10	chr8:124749800-124758200	Enhancers	Fetal Intestine Large	intestine
11	chr8:124749800-124758400	Enhancers	Fetal Intestine Small	intestine
12	chr8:124750200-124750400	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr8:124750200-124750400	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr8:124750200-124750400	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr8:124750200-124750400	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr8:124750200-124750400	Flanking Active TSS	A549	lung
17	chr8:124750200-124751800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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