Variant report

Variant	rs868393
Chromosome Location	chr2:11270690-11270691
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr2:11269789-11270786	HCT-116	colon:	n/a	chr2:11270232-11270246
2	CTCF	chr2:11269906-11270718	HCT-116	colon:	n/a	n/a
3	RAD21	chr2:11269735-11270772	HCT-116	colon:	n/a	chr2:11270232-11270246

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11213310..11214023-chr2:11269749..11271029,3	MCF-7	breast:
2	chr2:11268656..11272146-chr2:11621524..11625212,4	MCF-7	breast:
3	chr2:11269743..11271630-chr2:11718749..11720489,2	K562	blood:
4	chr2:11256745..11259166-chr2:11268609..11271261,2	MCF-7	breast:
5	chr2:10973920..10977755-chr2:11268417..11271773,4	K562	blood:
6	chr2:11268985..11271402-chr2:11299866..11302582,2	MCF-7	breast:
7	chr2:11259687..11261263-chr2:11269036..11270922,2	MCF-7	breast:
8	chr2:10828291..10832221-chr2:11269738..11273006,3	MCF-7	breast:
9	chr2:10947754..10949615-chr2:11268944..11271404,2	MCF-7	breast:
10	chr2:11256796..11258372-chr2:11268716..11271712,2	MCF-7	breast:
11	chr2:11269728..11273923-chr2:11678087..11684060,5	MCF-7	breast:
12	chr2:11268781..11271760-chr2:11481751..11485237,3	MCF-7	breast:
13	chr2:10971180..10977465-chr2:11267266..11272931,15	MCF-7	breast:
14	chr2:11133150..11133773-chr2:11270117..11270743,2	MCF-7	breast:

No data

Variant related genes	Relation type
C2orf50	TF binding region
ENSG00000243819	Chromatin interaction
ENSG00000115761	Chromatin interaction
ENSG00000264010	Chromatin interaction
ENSG00000143870	Chromatin interaction
ENSG00000134318	Chromatin interaction
ENSG00000162976	Chromatin interaction
ENSG00000196208	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16857212	1.00[EUR][1000 genomes]
rs16857295	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2037105	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58092863	1.00[EUR][1000 genomes]
rs58855966	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61646530	1.00[EUR][1000 genomes]
rs6719714	1.00[CEU][hapmap]
rs73175663	1.00[EUR][1000 genomes]
rs73175666	1.00[EUR][1000 genomes]
rs73175691	1.00[EUR][1000 genomes]
rs73187657	1.00[EUR][1000 genomes]
rs73187662	1.00[EUR][1000 genomes]
rs73187664	1.00[EUR][1000 genomes]
rs7591945	1.00[CEU][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv520789	chr2:11259067-11312224	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11269200-11270800	Enhancers	HUVEC	blood vessel
2	chr2:11269600-11270800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr2:11269600-11270800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr2:11269600-11270800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:11269600-11270800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:11269600-11270800	Enhancers	Fetal Heart	heart
7	chr2:11269600-11271000	Flanking Active TSS	Dnd41	blood
8	chr2:11269800-11270800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:11269800-11270800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr2:11269800-11270800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:11269800-11270800	Flanking Active TSS	Colonic Mucosa	Colon
12	chr2:11269800-11270800	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr2:11269800-11270800	Active TSS	Rectal Smooth Muscle	rectum
14	chr2:11269800-11270800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
15	chr2:11269800-11274000	Enhancers	Fetal Brain Male	brain
16	chr2:11270000-11270800	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr2:11270000-11270800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:11270000-11272400	Active TSS	Brain Angular Gyrus	brain
19	chr2:11270200-11270800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:11270200-11270800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
21	chr2:11270200-11270800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:11270200-11270800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr2:11270200-11270800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr2:11270200-11270800	Enhancers	Spleen	Spleen
25	chr2:11270200-11270800	Flanking Active TSS	HepG2	liver
26	chr2:11270200-11271200	Enhancers	Fetal Thymus	thymus
27	chr2:11270400-11270800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:11270400-11270800	Enhancers	Adipose Nuclei	Adipose
29	chr2:11270400-11270800	Enhancers	Colon Smooth Muscle	Colon
30	chr2:11270400-11270800	Enhancers	Fetal Muscle Leg	muscle
31	chr2:11270400-11270800	Enhancers	Pancreas	Pancrea
32	chr2:11270400-11270800	Flanking Active TSS	A549	lung
33	chr2:11270400-11271000	Enhancers	Stomach Mucosa	stomach
34	chr2:11270400-11271200	Enhancers	Primary hematopoietic stem cells	blood
35	chr2:11270400-11271400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:11270400-11271400	Enhancers	Placenta	Placenta
37	chr2:11270400-11271400	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr2:11270400-11272400	Weak transcription	NHLF	lung
39	chr2:11270400-11272600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:11270400-11272600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:11270400-11272600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:11270400-11272600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:11270400-11272600	Weak transcription	Osteobl	bone
44	chr2:11270400-11272800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr2:11270400-11272800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:11270400-11273000	Weak transcription	Aorta	Aorta
47	chr2:11270400-11273000	Weak transcription	Esophagus	oesophagus
48	chr2:11270600-11270800	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr2:11270600-11270800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:11270600-11270800	Enhancers	Liver	Liver

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