Variant report

Variant	rs73187679
Chromosome Location	chr2:11268687-11268688
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr2:11268518-11269257	HUVEC	blood vessel:	n/a	n/a
2	PBX3	chr2:11268608-11269201	SK-N-SH	brain:	n/a	n/a
3	NFIC	chr2:11268565-11269203	SK-N-SH	brain:	n/a	n/a
4	TCF12	chr2:11268630-11269235	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr2:11268606-11269226	SK-N-SH	brain:	n/a	n/a
6	REST	chr2:11268682-11269032	PFSK-1	brain:	n/a	n/a
7	FOXP2	chr2:11268581-11269014	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr2:11268550-11269060	HUVEC	blood vessel:	n/a	n/a
9	FOXP2	chr2:11268644-11268952	PFSK-1	brain:	n/a	n/a
10	ZBTB7A	chr2:11268649-11268851	K562	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11268656..11272146-chr2:11621524..11625212,4	MCF-7	breast:
2	chr2:11256745..11259166-chr2:11268609..11271261,2	MCF-7	breast:
3	chr2:11268242..11270233-chr2:11636174..11639118,2	MCF-7	breast:
4	chr2:11267451..11270365-chr2:11623207..11626147,3	MCF-7	breast:
5	chr2:10973920..10977755-chr2:11268417..11271773,4	K562	blood:
6	chr2:11261636..11264793-chr2:11267057..11269969,4	MCF-7	breast:
7	chr2:10952686..10954335-chr2:11268675..11270321,2	MCF-7	breast:
8	chr2:11267717..11270213-chr2:11295348..11297264,2	MCF-7	breast:
9	chr2:11266900..11270015-chr2:11270952..11273853,3	K562	blood:
10	chr2:10972556..10974253-chr2:11268558..11270132,2	MCF-7	breast:
11	chr2:10971180..10977465-chr2:11267266..11272931,15	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ROCK2-3	chr2:11268240-11269012	NONHSAT069147
2	lnc-ROCK2-3	chr2:11268665-11269012	ENSG00000145063.10

No data

Variant related genes	Relation type
C2orf50	TF binding region
ENSG00000162976	Chromatin interaction
ENSG00000143870	Chromatin interaction
ENSG00000150873	Chromatin interaction
ENSG00000145063	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]
rs73187678	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:61 , 50 per page) page: 1 2

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

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