Variant report

Variant	rs55756628
Chromosome Location	chr1:185043822-185043823
allele	C/T
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	JUND	chr1:185043515-185043853	H1-hESC	embryonic stem cell:	n/a	n/a
2	FOS	chr1:185043553-185043823	MCF10A-Er-Src	breast:	n/a	n/a
3	NFIC	chr1:185043430-185043920	SK-N-SH	brain:	n/a	n/a
4	FOSL2	chr1:185043397-185043834	SK-N-SH	brain:	n/a	n/a
5	STAT3	chr1:185043642-185043840	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:185013745..185016222-chr1:185042769..185045253,2	MCF-7	breast:
2	chr1:185036165..185039071-chr1:185043349..185046105,2	K562	blood:
3	chr1:185043128..185045401-chr1:185047846..185049974,2	K562	blood:

Variant related genes	Relation type
FTH1P25	TF binding region
ENSG00000121481	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs41529047	1.00[AMR][1000 genomes]
rs56110440	1.00[AMR][1000 genomes]
rs57853329	1.00[AMR][1000 genomes]
rs60738706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134412	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134422	1.00[AMR][1000 genomes]
rs74134423	1.00[AMR][1000 genomes]
rs74134425	1.00[AMR][1000 genomes]
rs74134426	1.00[AMR][1000 genomes]
rs74134427	1.00[AMR][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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548396	chr1:185038104-185151378	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185016400-185057000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:185016400-185067200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:185016400-185073800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:185016600-185057000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:185018400-185101800	Weak transcription	Fetal Brain Male	brain
6	chr1:185021600-185057200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:185024200-185044000	Weak transcription	Fetal Stomach	stomach
8	chr1:185024200-185056600	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr1:185027200-185056400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:185027200-185056400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:185028200-185058200	Weak transcription	Brain Substantia Nigra	brain
12	chr1:185030200-185076600	Weak transcription	Gastric	stomach
13	chr1:185031200-185044000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:185031200-185044400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:185032200-185057800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr1:185032400-185044000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:185032800-185056600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:185033200-185044000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:185034400-185044000	Weak transcription	Fetal Intestine Small	intestine
20	chr1:185034800-185044600	Weak transcription	Lung	lung
21	chr1:185034800-185057400	Weak transcription	Fetal Brain Female	brain
22	chr1:185034800-185077000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:185035000-185044600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:185035000-185056600	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:185035000-185058000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:185035200-185056600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:185035400-185057000	Weak transcription	Fetal Intestine Large	intestine
28	chr1:185035800-185052600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr1:185035800-185056400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:185035800-185057800	Weak transcription	Fetal Lung	lung
31	chr1:185036000-185056600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr1:185036000-185056600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr1:185037400-185056800	Weak transcription	Placenta	Placenta
34	chr1:185037800-185044600	Weak transcription	Spleen	Spleen
35	chr1:185037800-185052600	Weak transcription	Aorta	Aorta
36	chr1:185037800-185056400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:185037800-185056800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:185037800-185065400	Weak transcription	HMEC	breast
39	chr1:185038400-185063600	Weak transcription	Psoas Muscle	Psoas
40	chr1:185038600-185063600	Weak transcription	Left Ventricle	heart
41	chr1:185038800-185053400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:185040800-185044800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:185041000-185056400	Weak transcription	Primary T cells from cord blood	blood
44	chr1:185041200-185048400	Weak transcription	K562	blood
45	chr1:185041200-185056400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr1:185041200-185056600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr1:185041400-185044200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:185041600-185056600	Weak transcription	Primary B cells from cord blood	blood
49	chr1:185042400-185044000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:185042600-185044400	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links