Variant report

Variant	rs11890203
Chromosome Location	chr2:234780131-234780132
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr2:234780131-234780443	HepG2	liver:	n/a	n/a
2	MAFK	chr2:234780130-234780399	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:234780107-234780157	HCM	heart:	n/a
2	chr2:234780107-234780157	GM06990	blood:	n/a
3	chr2:234780107-234780157	HIPEpiC	eye:	n/a
4	chr2:234780107-234780157	Hepatocyte	liver:	n/a
5	chr2:234780107-234780157	NB4	blood:	n/a
6	chr2:234780107-234780157	NT2-D1	testis:	n/a
7	chr2:234780107-234780157	BE2_C	brain:	n/a
8	chr2:234780107-234780157	HEEpiC	esophagus:	n/a
9	chr2:234780107-234780157	ProgFib	skin:	n/a
10	chr2:234780107-234780157	HRPEpiC	eye:	n/a
11	chr2:234780107-234780157	Jurkat	blood:	n/a
12	chr2:234780107-234780157	AG04450	lung:	fetal
13	chr2:234780107-234780157	NH-A	brain:	n/a
14	chr2:234780107-234780157	Caco-2	colon:	n/a
15	chr2:234780107-234780157	ovcar-3	ovarian:	n/a
16	chr2:234780107-234780157	HPAEpiC	pulmonary alveolar:	n/a
17	chr2:234780107-234780157	AG04449	skin:	fetal
18	chr2:234780107-234780157	CMK	blood:	n/a
19	chr2:234780107-234780157	PFSK-1	brain:	n/a
20	chr2:234780107-234780157	AG09319	gingival:	n/a
21	chr2:234780107-234780157	HMEC	breast:	n/a
22	chr2:234780107-234780157	HRCEpiC	kidney:	n/a
23	chr2:234780107-234780157	HCPEpiC	choroid plexus:	n/a
24	chr2:234780107-234780157	HL-60	blood:	n/a
25	chr2:234780107-234780157	GM19239	blood:	n/a
26	chr2:234780107-234780157	LNCaP	prostate:	n/a
27	chr2:234780107-234780157	SK-N-SH_RA	brain:	n/a
28	chr2:234780107-234780157	MCF10A-Er-Src	breast:	n/a
29	chr2:234780107-234780157	HUVEC	blood vessel:	n/a
30	chr2:234780107-234780157	HRE	kidney:	n/a
31	chr2:234780107-234780157	IMR90	lung:	fetal
32	chr2:234780107-234780157	MCF-7	breast:	n/a
33	chr2:234780107-234780157	HCF	heart:	n/a
34	chr2:234780107-234780157	GM12892	blood:	n/a
35	chr2:234780107-234780157	T-47D	breast:	n/a
36	chr2:234780107-234780157	U87	brain:	n/a
37	chr2:234780107-234780157	AG09309	skin:	n/a
38	chr2:234780107-234780157	GM12891	blood:	n/a
39	chr2:234780107-234780157	SK-N-SH	brain:	n/a
40	chr2:234780107-234780157	PrEC	prostate:	n/a
41	chr2:234780107-234780157	Hela-S3	cervix:	n/a
42	chr2:234780107-234780157	BJ	skin:	n/a
43	chr2:234780107-234780157	GM12878	blood:	n/a
44	chr2:234780107-234780157	K562	blood:	n/a
45	chr2:234780107-234780157	AG10803	skin:	n/a
46	chr2:234780107-234780157	SK-N-MC	brain:	n/a
47	chr2:234780107-234780157	H1-hESC	embryonic stem cell:	embryo
48	chr2:234780107-234780157	HAEpiC	amniotic membrane:	n/a
49	chr2:234780107-234780157	PANC-1	pancreas:	n/a
50	chr2:234780107-234780157	HepG2	liver:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	2:234635414-234639782..2:234772667-234780240	Hela-S3	cervix:
2	chr2:234768126..234770325-chr2:234779679..234781958,2	K562	blood:
3	2:234683624-234705119..2:234772667-234780240	Hela-S3	cervix:
4	2:234772667-234780240..2:234954947-234965240	Hela-S3	cervix:
5	2:234543708-234558325..2:234772667-234780240	Hela-S3	cervix:

No data

Variant related genes	Relation type
MSL3P1	TF binding region
MSL3P1	CpG island
ENSG00000234143	Chromatin interaction
ENSG00000241635	Chromatin interaction
ENSG00000072080	Chromatin interaction
ENSG00000243135	Chromatin interaction
ENSG00000242515	Chromatin interaction
ENSG00000185038	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10164928	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204079	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10929318	0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs13384181	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13390675	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13399418	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17862931	1.00[CHB][hapmap];1.00[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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234780000-234780200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:234780000-234780200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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