Variant report

Variant	rs28900409
Chromosome Location	chr2:234684045-234684046
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr2:234684041-234684345	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	chr2:234684024-234684074	GM12891	blood:	n/a
2	chr2:234684024-234684074	SK-N-SH_RA	brain:	n/a
3	chr2:234684024-234684074	HAEpiC	amniotic membrane:	n/a
4	chr2:234684024-234684074	SK-N-MC	brain:	n/a
5	chr2:234684024-234684074	MCF-7	breast:	n/a
6	chr2:234684024-234684074	H1-hESC	embryonic stem cell:	embryo
7	chr2:234684024-234684074	NB4	blood:	n/a
8	chr2:234684024-234684074	GM19239	blood:	n/a
9	chr2:234684024-234684074	NT2-D1	testis:	n/a
10	chr2:234684024-234684074	PFSK-1	brain:	n/a
11	chr2:234684024-234684074	AG10803	skin:	n/a
12	chr2:234684024-234684074	PANC-1	pancreas:	n/a
13	chr2:234684024-234684074	PrEC	prostate:	n/a
14	chr2:234684024-234684074	IMR90	lung:	fetal
15	chr2:234684024-234684074	NH-A	brain:	n/a
16	chr2:234684024-234684074	ProgFib	skin:	n/a
17	chr2:234684024-234684074	AG09309	skin:	n/a
18	chr2:234684024-234684074	CMK	blood:	n/a
19	chr2:234684024-234684074	AG09319	gingival:	n/a
20	chr2:234684024-234684074	HCT-116	colon:	n/a
21	chr2:234684024-234684074	HMEC	breast:	n/a
22	chr2:234684024-234684074	GM12878	blood:	n/a
23	chr2:234684024-234684074	HUVEC	blood vessel:	n/a
24	chr2:234684024-234684074	RPTEC	kidney:	n/a
25	chr2:234684024-234684074	U87	brain:	n/a
26	chr2:234684024-234684074	LNCaP	prostate:	n/a
27	chr2:234684024-234684074	HCPEpiC	choroid plexus:	n/a
28	chr2:234684024-234684074	NHBE	bronchial:	n/a
29	chr2:234684024-234684074	A549	lung:	n/a
30	chr2:234684024-234684074	NHDF-neo	bronchial:	n/a
31	chr2:234684024-234684074	BJ	skin:	n/a
32	chr2:234684024-234684074	BE2_C	brain:	n/a
33	chr2:234684024-234684074	SKMC	muscle:	n/a
34	chr2:234684024-234684074	GM12892	blood:	n/a
35	chr2:234684024-234684074	K562	blood:	n/a
36	chr2:234684024-234684074	HPAEpiC	pulmonary alveolar:	n/a
37	chr2:234684024-234684074	HCM	heart:	n/a
38	chr2:234684024-234684074	Jurkat	blood:	n/a
39	chr2:234684024-234684074	MCF10A-Er-Src	breast:	n/a
40	chr2:234684024-234684074	Caco-2	colon:	n/a
41	chr2:234684024-234684074	GM06990	blood:	n/a
42	chr2:234684024-234684074	HepG2	liver:	n/a
43	chr2:234684024-234684074	Hepatocyte	liver:	n/a
44	chr2:234684024-234684074	HRCEpiC	kidney:	n/a
45	chr2:234684024-234684074	AoSMC	blood vessel:	n/a
46	chr2:234684024-234684074	HRE	kidney:	n/a
47	chr2:234684024-234684074	HEEpiC	esophagus:	n/a
48	chr2:234684024-234684074	HCF	heart:	n/a
49	chr2:234684024-234684074	ovcar-3	ovarian:	n/a
50	chr2:234684024-234684074	HRPEpiC	eye:	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	TF binding region
MROH2A	CpG island
ENSG00000224287	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10199882	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11563250	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17862880	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17862885	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17863805	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4663335	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4663973	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7586006	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9287649	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][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	chr2:234683200-234685200	Weak transcription	Liver	Liver
3	chr2:234683600-234684600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:234683800-234684400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:234683800-234684400	ZNF genes & repeats	Esophagus	oesophagus
6	chr2:234683800-234684400	Enhancers	Gastric	stomach
7	chr2:234684000-234684400	ZNF genes & repeats	NHEK	skin

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