Variant report

Variant	rs2018908
Chromosome Location	chr1:224923034-224923035
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RELA	chr1:224922888-224923212	GM12878	blood:	n/a	n/a
2	CHD2	chr1:224922853-224923301	GM12878	blood:	n/a	n/a
3	RUNX3	chr1:224922697-224923328	GM12878	blood:	n/a	n/a
4	WRNIP1	chr1:224922941-224923223	GM12878	blood:	n/a	n/a
5	MAFK	chr1:224922879-224923121	Hela-S3	cervix:	n/a	chr1:224922962-224922973 chr1:224922964-224922980 chr1:224922960-224922974 chr1:224922965-224922979 chr1:224922961-224922976 chr1:224922961-224922977 chr1:224922962-224922982
6	RCOR1	chr1:224922965-224923290	GM12878	blood:	n/a	n/a
7	MAFK	chr1:224922790-224923155	HepG2	liver:	n/a	chr1:224922962-224922973 chr1:224922964-224922980 chr1:224922960-224922974 chr1:224922965-224922979 chr1:224922961-224922976 chr1:224922961-224922977 chr1:224922962-224922982
8	MAFK	chr1:224922648-224923338	GM12878	blood:	n/a	chr1:224922962-224922973 chr1:224922964-224922980 chr1:224922960-224922974 chr1:224922965-224922979 chr1:224922961-224922976 chr1:224922961-224922977 chr1:224922962-224922982
9	MEF2A	chr1:224922906-224923287	GM12878	blood:	n/a	n/a
10	MAFK	chr1:224922868-224923082	H1-hESC	embryonic stem cell:	n/a	chr1:224922962-224922973 chr1:224922964-224922980 chr1:224922960-224922974 chr1:224922965-224922979 chr1:224922961-224922976 chr1:224922961-224922977 chr1:224922962-224922982
11	MAFF	chr1:224922821-224923151	HepG2	liver:	n/a	chr1:224922959-224922977
12	RELA	chr1:224922906-224923264	GM19099	blood:	n/a	n/a
13	EBF1	chr1:224922800-224923327	GM12878	blood:	n/a	chr1:224923132-224923142 chr1:224923131-224923142 chr1:224923132-224923141
14	IKZF1	chr1:224922760-224923334	GM12878	blood:	n/a	n/a
15	MAFK	chr1:224922820-224923149	K562	blood:	n/a	chr1:224922962-224922973 chr1:224922964-224922980 chr1:224922960-224922974 chr1:224922965-224922979 chr1:224922961-224922976 chr1:224922961-224922977 chr1:224922962-224922982
16	CUX1	chr1:224922926-224923172	GM12878	blood:	n/a	n/a
17	EP300	chr1:224922953-224923286	GM12878	blood:	n/a	n/a
18	NFIC	chr1:224922758-224923285	GM12878	blood:	n/a	n/a
19	PAX5	chr1:224922915-224923309	GM12878	blood:	n/a	n/a
20	EP300	chr1:224922934-224923290	GM12878	blood:	n/a	n/a
21	MAFF	chr1:224922819-224923139	K562	blood:	n/a	chr1:224922959-224922977
22	RUNX3	chr1:224922807-224923321	GM12878	blood:	n/a	n/a
23	ZEB1	chr1:224922920-224923470	GM12878	blood:	n/a	chr1:224922982-224922990 chr1:224923144-224923151 chr1:224923143-224923154
24	MAFK	chr1:224922815-224923150	HepG2	liver:	n/a	chr1:224922962-224922973 chr1:224922964-224922980 chr1:224922960-224922974 chr1:224922965-224922979 chr1:224922961-224922976 chr1:224922961-224922977 chr1:224922962-224922982
25	STAT3	chr1:224922920-224923168	GM12878	blood:	n/a	n/a
26	EBF1	chr1:224922955-224923306	GM12878	blood:	n/a	chr1:224923132-224923142 chr1:224923131-224923142 chr1:224923132-224923141
27	TBL1XR1	chr1:224922917-224923279	GM12878	blood:	n/a	n/a
28	EBF1	chr1:224922929-224923276	GM12878	blood:	n/a	chr1:224923132-224923142 chr1:224923131-224923142 chr1:224923132-224923141
29	MAFK	chr1:224922799-224923146	IMR90	lung:	n/a	chr1:224922962-224922973 chr1:224922964-224922980 chr1:224922960-224922974 chr1:224922965-224922979 chr1:224922961-224922976 chr1:224922961-224922977 chr1:224922962-224922982
30	YY1	chr1:224922939-224923166	GM12878	blood:	n/a	n/a
31	BHLHE40	chr1:224922917-224923255	GM12878	blood:	n/a	n/a
32	MAZ	chr1:224922895-224923220	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224917954..224920800-chr1:224921444..224923051,2	MCF-7	breast:
2	chr1:224920081..224922903-chr1:224922930..224927181,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229400	TF binding region
ENSG00000229400	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10915720	1.00[AFR][1000 genomes]
rs10915741	1.00[AFR][1000 genomes]
rs11585297	1.00[ASW][hapmap]
rs11590145	1.00[AFR][1000 genomes]
rs16853978	1.00[AFR][1000 genomes]
rs61852092	1.00[AFR][1000 genomes]
rs920133	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv524125	chr1:224902054-225021860	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224914800-224924400	Weak transcription	Ovary	ovary
2	chr1:224915000-224924400	Weak transcription	Brain Anterior Caudate	brain
3	chr1:224916200-224924200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:224918400-224924600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:224919000-224923200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:224919600-224926200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:224920200-224923400	Enhancers	Fetal Thymus	thymus
8	chr1:224920200-224924200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:224920200-224925000	Weak transcription	Colonic Mucosa	Colon
10	chr1:224921000-224924200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:224921200-224924200	Weak transcription	Spleen	Spleen
12	chr1:224921400-224924200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:224921400-224924400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:224921400-224924400	Weak transcription	NH-A	brain
15	chr1:224921600-224923800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:224921600-224924200	Weak transcription	Adipose Nuclei	Adipose
17	chr1:224921600-224924400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:224921600-224924600	Weak transcription	Pancreas	Pancrea
19	chr1:224921600-224931400	Weak transcription	Psoas Muscle	Psoas
20	chr1:224921800-224923600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:224921800-224923600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:224921800-224924200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:224921800-224924200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr1:224921800-224924200	Weak transcription	Osteobl	bone
25	chr1:224921800-224924400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:224921800-224924600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:224921800-224924600	Weak transcription	Right Atrium	heart
28	chr1:224921800-224925200	Weak transcription	Esophagus	oesophagus
29	chr1:224921800-224934600	Weak transcription	HMEC	breast
30	chr1:224922000-224924600	Weak transcription	Right Ventricle	heart
31	chr1:224922200-224923200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr1:224922200-224923400	Enhancers	Primary T cells from cord blood	blood
33	chr1:224922200-224923600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr1:224922200-224923600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:224922200-224923800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:224922200-224923800	Enhancers	GM12878-XiMat	blood
37	chr1:224922400-224923200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:224922400-224923200	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr1:224922400-224923200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:224922400-224923200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:224922400-224924000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr1:224922400-224924400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:224922400-224924400	Weak transcription	Liver	Liver
44	chr1:224922400-224924400	Weak transcription	Left Ventricle	heart
45	chr1:224922600-224923200	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr1:224922800-224924200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr1:224922800-224924200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:224922800-224924200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr1:224922800-224924200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:224922800-224924200	Weak transcription	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links