Variant report

Variant	rs72785429
Chromosome Location	chr2:11269539-11269540
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 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	chr2:11268985..11271402-chr2:11299866..11302582,2	MCF-7	breast:
8	chr2:10952686..10954335-chr2:11268675..11270321,2	MCF-7	breast:
9	chr2:11259687..11261263-chr2:11269036..11270922,2	MCF-7	breast:
10	chr2:11267717..11270213-chr2:11295348..11297264,2	MCF-7	breast:
11	chr2:10947754..10949615-chr2:11268944..11271404,2	MCF-7	breast:
12	chr2:11266900..11270015-chr2:11270952..11273853,3	K562	blood:
13	chr2:11256796..11258372-chr2:11268716..11271712,2	MCF-7	breast:
14	chr2:11268781..11271760-chr2:11481751..11485237,3	MCF-7	breast:
15	chr2:10972556..10974253-chr2:11268558..11270132,2	MCF-7	breast:
16	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	chr2:11269453-11269578	ENSG00000145063

No data

Variant related genes	Relation type
ENSG00000162976	Chromatin interaction
ENSG00000143870	Chromatin interaction
ENSG00000145063	Chromatin interaction
ENSG00000134318	Chromatin interaction
ENSG00000150873	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10166950	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10166997	0.95[EUR][1000 genomes]
rs10191933	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10495579	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11676318	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11681385	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs13392854	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2357991	0.94[EUR][1000 genomes]
rs28433865	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs55935965	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72785428	0.80[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:65 , 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	chr2:11265000-11269800	Weak transcription	Brain Anterior Caudate	brain
8	chr2:11265200-11269600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:11265200-11269800	Weak transcription	Liver	Liver
10	chr2:11265400-11269600	Weak transcription	A549	lung
11	chr2:11268000-11269600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:11268000-11269600	Enhancers	Fetal Thymus	thymus
13	chr2:11268000-11269800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:11268200-11269600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:11268400-11269800	Enhancers	Fetal Stomach	stomach
16	chr2:11268400-11269800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:11268400-11269800	Enhancers	HMEC	breast
18	chr2:11268400-11270000	Enhancers	NHLF	lung
19	chr2:11268400-11270600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:11268400-11270600	Enhancers	NH-A	brain
21	chr2:11268600-11269600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:11268600-11269600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:11268600-11269600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr2:11268600-11269600	Enhancers	Fetal Muscle Leg	muscle
25	chr2:11268600-11269800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:11268600-11269800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:11268600-11269800	Enhancers	Adipose Nuclei	Adipose
28	chr2:11268600-11269800	Enhancers	Duodenum Mucosa	Duodenum
29	chr2:11268600-11270200	Enhancers	NHDF-Ad	bronchial
30	chr2:11268800-11269600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr2:11268800-11269600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr2:11268800-11269800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:11268800-11269800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:11268800-11269800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr2:11268800-11269800	Weak transcription	Gastric	stomach
36	chr2:11268800-11269800	Weak transcription	Pancreas	Pancrea
37	chr2:11268800-11269800	Weak transcription	Right Atrium	heart
38	chr2:11268800-11270000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr2:11268800-11270200	Weak transcription	Spleen	Spleen
40	chr2:11269000-11269600	Enhancers	HepG2	liver
41	chr2:11269000-11269800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:11269000-11269800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:11269000-11269800	Weak transcription	Stomach Mucosa	stomach
44	chr2:11269000-11269800	Enhancers	NHEK	skin
45	chr2:11269000-11270000	Weak transcription	HSMM	muscle
46	chr2:11269000-11270200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:11269200-11269600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:11269200-11269600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:11269200-11269600	Weak transcription	Fetal Lung	lung
50	chr2:11269200-11269600	Weak transcription	Lung	lung

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