Variant report

Variant	rs73187678
Chromosome Location	chr2:11268499-11268500
allele	A/C
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:7)
LncRNA
region (count:1)
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	FOXA2	chr2:11268250-11268537	HepG2	liver:	n/a	n/a
2	FOXA1	chr2:11268189-11268530	HepG2	liver:	n/a	n/a
3	FOXA2	chr2:11268244-11268680	A549	lung:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11268242..11270233-chr2:11636174..11639118,2	MCF-7	breast:
2	chr2:11267451..11270365-chr2:11623207..11626147,3	MCF-7	breast:
3	chr2:10973920..10977755-chr2:11268417..11271773,4	K562	blood:
4	chr2:11261636..11264793-chr2:11267057..11269969,4	MCF-7	breast:
5	chr2:11267717..11270213-chr2:11295348..11297264,2	MCF-7	breast:
6	chr2:11266900..11270015-chr2:11270952..11273853,3	K562	blood:
7	chr2:10971180..10977465-chr2:11267266..11272931,15	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ROCK2-3	chr2:11268240-11269012	NONHSAT069147

No data

Variant related genes	Relation type
C2orf50	TF binding region
ENSG00000145063	Chromatin interaction
ENSG00000162976	Chromatin interaction
ENSG00000150873	Chromatin interaction
ENSG00000143870	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11903251	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56732337	0.99[AFR][1000 genomes]
rs60610218	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61710770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73187671	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73187673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73187676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73187677	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73187679	1.00[AFR][1000 genomes];1.00[AMR][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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11262200-11269800	Weak transcription	Ovary	ovary
2	chr2:11262800-11268600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:11262800-11269600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:11263400-11269800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:11263600-11269800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:11264600-11268600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:11264600-11269600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:11264800-11269800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:11265000-11268600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:11265000-11269400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:11265000-11269800	Weak transcription	Brain Anterior Caudate	brain
12	chr2:11265200-11269600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:11265200-11269800	Weak transcription	Liver	Liver
14	chr2:11265400-11269600	Weak transcription	A549	lung
15	chr2:11268000-11268800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:11268000-11268800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:11268000-11269600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:11268000-11269600	Enhancers	Fetal Thymus	thymus
19	chr2:11268000-11269800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr2:11268200-11268600	Enhancers	Primary hematopoietic stem cells	blood
21	chr2:11268200-11268600	Weak transcription	Spleen	Spleen
22	chr2:11268200-11268600	Enhancers	HUVEC	blood vessel
23	chr2:11268200-11268800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr2:11268200-11269400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr2:11268200-11269600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:11268400-11268600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr2:11268400-11268600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:11268400-11268600	Weak transcription	Right Atrium	heart
29	chr2:11268400-11268800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:11268400-11268800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:11268400-11268800	Enhancers	Gastric	stomach
32	chr2:11268400-11268800	Enhancers	Pancreas	Pancrea
33	chr2:11268400-11268800	Enhancers	Stomach Smooth Muscle	stomach
34	chr2:11268400-11269000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:11268400-11269000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr2:11268400-11269000	Enhancers	Stomach Mucosa	stomach
37	chr2:11268400-11269000	Bivalent Enhancer	HepG2	liver
38	chr2:11268400-11269000	Bivalent Enhancer	K562	blood
39	chr2:11268400-11269200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:11268400-11269200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:11268400-11269200	Enhancers	Fetal Lung	lung
42	chr2:11268400-11269200	Enhancers	Lung	lung
43	chr2:11268400-11269200	Enhancers	Osteobl	bone
44	chr2:11268400-11269800	Enhancers	Fetal Stomach	stomach
45	chr2:11268400-11269800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr2:11268400-11269800	Enhancers	HMEC	breast
47	chr2:11268400-11270000	Enhancers	NHLF	lung
48	chr2:11268400-11270600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:11268400-11270600	Enhancers	NH-A	brain

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