Variant report

Variant	rs11890366
Chromosome Location	chr2:99220411-99220412
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	POLR2A	chr2:99220086-99220642	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99060800..99062868-chr2:99218071..99220777,2	MCF-7	breast:
2	chr2:99219237..99221017-chr2:99222834..99226199,5	K562	blood:

Variant related genes	Relation type
UNC50	TF binding region
ENSG00000040933	Chromatin interaction
ENSG00000183513	Chromatin interaction
ENSG00000115446	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10183473	1.00[AMR][1000 genomes]
rs11885661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11891148	1.00[EUR][1000 genomes]
rs11892907	0.89[AFR][1000 genomes]
rs11901761	1.00[EUR][1000 genomes]
rs13395005	1.00[EUR][1000 genomes]
rs17020532	1.00[EUR][1000 genomes]
rs17030716	1.00[EUR][1000 genomes]
rs17033137	1.00[EUR][1000 genomes]
rs17034163	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17034202	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17034261	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1847551	1.00[EUR][1000 genomes]
rs2271041	1.00[EUR][1000 genomes]
rs2871214	1.00[EUR][1000 genomes]
rs35028575	1.00[EUR][1000 genomes]
rs6710669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6716095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6727604	1.00[EUR][1000 genomes]
rs6730113	1.00[EUR][1000 genomes]
rs6730953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6739018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6749575	1.00[EUR][1000 genomes]
rs6749743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6754711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6756034	1.00[EUR][1000 genomes]
rs6756693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7561785	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7570509	1.00[EUR][1000 genomes]
rs7585045	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7605114	1.00[AMR][1000 genomes];1.00[EUR][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	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99169400-99222600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:99177400-99221000	Weak transcription	Psoas Muscle	Psoas
3	chr2:99194200-99220800	Weak transcription	Fetal Heart	heart
4	chr2:99199600-99223400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:99201800-99223000	Weak transcription	Stomach Mucosa	stomach
6	chr2:99203000-99222800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:99210800-99223200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:99211000-99221200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:99212200-99220600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:99212200-99220800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:99212200-99222800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:99212600-99220800	Strong transcription	Placenta	Placenta
13	chr2:99212600-99221400	Strong transcription	Liver	Liver
14	chr2:99212600-99223600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:99213000-99220600	Strong transcription	Stomach Smooth Muscle	stomach
16	chr2:99213000-99220800	Strong transcription	HSMM	muscle
17	chr2:99213000-99222400	Strong transcription	Primary B cells from cord blood	blood
18	chr2:99213000-99222600	Strong transcription	Fetal Muscle Trunk	muscle
19	chr2:99213000-99223000	Strong transcription	Fetal Thymus	thymus
20	chr2:99213200-99220600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:99213200-99220600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:99213200-99221200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:99213200-99221400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr2:99213200-99223600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:99213600-99220600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:99213800-99220600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:99213800-99221000	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:99214000-99220600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:99214000-99220600	Strong transcription	Fetal Intestine Large	intestine
30	chr2:99214000-99220600	Strong transcription	Left Ventricle	heart
31	chr2:99214000-99221400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:99214200-99223000	Weak transcription	Fetal Brain Male	brain
33	chr2:99214400-99222600	Weak transcription	Brain Angular Gyrus	brain
34	chr2:99214800-99220600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr2:99214800-99220600	Strong transcription	K562	blood
36	chr2:99214800-99222600	Strong transcription	Primary hematopoietic stem cells	blood
37	chr2:99215600-99220600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr2:99216200-99220600	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr2:99216400-99220600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:99216800-99222400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr2:99216800-99223600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:99217000-99221200	Weak transcription	HMEC	breast
43	chr2:99217000-99221600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr2:99217000-99223400	Weak transcription	A549	lung
45	chr2:99217000-99223600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:99217200-99221000	Weak transcription	HSMMtube	muscle
47	chr2:99217200-99221800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr2:99217200-99223600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr2:99217200-99223600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr2:99217400-99223000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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