Variant report

Variant	rs28900408
Chromosome Location	chr2:234683826-234683827
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	chr2:234683776-234683826	MCF-7	breast:	n/a
2	chr2:234683776-234683826	AG10803	skin:	n/a
3	chr2:234683776-234683826	Hepatocyte	liver:	n/a
4	chr2:234683776-234683826	ProgFib	skin:	n/a
5	chr2:234683776-234683826	NHDF-neo	bronchial:	n/a
6	chr2:234683776-234683826	IMR90	lung:	fetal
7	chr2:234683776-234683826	AG09309	skin:	n/a
8	chr2:234683776-234683826	HUVEC	blood vessel:	n/a
9	chr2:234683776-234683826	RPTEC	kidney:	n/a
10	chr2:234683776-234683826	U87	brain:	n/a
11	chr2:234683776-234683826	SK-N-SH	brain:	n/a
12	chr2:234683776-234683826	HRE	kidney:	n/a
13	chr2:234683776-234683826	GM12891	blood:	n/a
14	chr2:234683776-234683826	GM12892	blood:	n/a
15	chr2:234683776-234683826	A549	lung:	n/a
16	chr2:234683776-234683826	HEK293	kidney:	embryo
17	chr2:234683776-234683826	HMEC	breast:	n/a
18	chr2:234683776-234683826	AoSMC	blood vessel:	n/a
19	chr2:234683776-234683826	HL-60	blood:	n/a
20	chr2:234683776-234683826	HCPEpiC	choroid plexus:	n/a
21	chr2:234683776-234683826	BJ	skin:	n/a
22	chr2:234683776-234683826	ECC-1	luminal epithelium:	n/a
23	chr2:234683776-234683826	LNCaP	prostate:	n/a
24	chr2:234683776-234683826	GM12878	blood:	n/a
25	chr2:234683776-234683826	SKMC	muscle:	n/a
26	chr2:234683776-234683826	Caco-2	colon:	n/a
27	chr2:234683776-234683826	Hela-S3	cervix:	n/a
28	chr2:234683776-234683826	PFSK-1	brain:	n/a
29	chr2:234683776-234683826	HCM	heart:	n/a
30	chr2:234683776-234683826	MCF10A-Er-Src	breast:	n/a
31	chr2:234683776-234683826	BE2_C	brain:	n/a
32	chr2:234683776-234683826	AG04449	skin:	fetal
33	chr2:234683776-234683826	NT2-D1	testis:	n/a
34	chr2:234683776-234683826	PANC-1	pancreas:	n/a
35	chr2:234683776-234683826	NHBE	bronchial:	n/a
36	chr2:234683776-234683826	NH-A	brain:	n/a
37	chr2:234683776-234683826	HCF	heart:	n/a
38	chr2:234683776-234683826	HRPEpiC	eye:	n/a
39	chr2:234683776-234683826	NB4	blood:	n/a
40	chr2:234683776-234683826	GM19239	blood:	n/a
41	chr2:234683776-234683826	HAEpiC	amniotic membrane:	n/a
42	chr2:234683776-234683826	GM06990	blood:	n/a
43	chr2:234683776-234683826	HEEpiC	esophagus:	n/a
44	chr2:234683776-234683826	PrEC	prostate:	n/a
45	chr2:234683776-234683826	SK-N-MC	brain:	n/a
46	chr2:234683776-234683826	SAEC	small airway:	n/a
47	chr2:234683776-234683826	Jurkat	blood:	n/a
48	chr2:234683776-234683826	HNPCEpiC	eye:	n/a
49	chr2:234683776-234683826	HRCEpiC	kidney:	n/a
50	chr2:234683776-234683826	CMK	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	2:234683624-234705119..2:234772667-234780240	Hela-S3	cervix:

No data

Variant related genes	Relation type
MROH2A	CpG island
ENSG00000224287	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10445705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28899190	1.00[EUR][1000 genomes]
rs28900377	1.00[EUR][1000 genomes]
rs28966996	1.00[EUR][1000 genomes]
rs28970011	1.00[EUR][1000 genomes]
rs36122545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6710806	1.00[EUR][1000 genomes]
rs6755418	1.00[EUR][1000 genomes]
rs7570783	1.00[EUR][1000 genomes]
rs7593585	1.00[EUR][1000 genomes]
rs7608038	1.00[EUR][1000 genomes]

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	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv1811811	chr2:234633964-234709430	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234672800-234685400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr2:234678600-234684000	Weak transcription	NHEK	skin
3	chr2:234683200-234685200	Weak transcription	Liver	Liver
4	chr2:234683600-234684600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:234683800-234684400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:234683800-234684400	ZNF genes & repeats	Esophagus	oesophagus
7	chr2:234683800-234684400	Enhancers	Gastric	stomach

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