Variant report

Variant	rs1217224
Chromosome Location	chr1:114140569-114140570
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:114135355..114138035-chr1:114138572..114141485,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10776773	0.82[ASN][1000 genomes]
rs10858003	0.81[ASN][1000 genomes]
rs10858006	0.94[ASN][1000 genomes]
rs11102667	0.90[ASN][1000 genomes]
rs1146183	0.88[ASN][1000 genomes]
rs1146184	0.85[ASN][1000 genomes]
rs1146185	0.88[ASN][1000 genomes]
rs12026423	0.90[ASN][1000 genomes]
rs12138638	0.83[ASN][1000 genomes]
rs1217194	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1217202	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1217212	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1217216	0.97[AFR][1000 genomes]
rs1217222	0.87[AFR][1000 genomes]
rs1217225	0.98[AFR][1000 genomes]
rs1217229	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1217231	0.98[AFR][1000 genomes]
rs1217238	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1230673	0.90[ASN][1000 genomes]
rs1230675	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1235000	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1237290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12757859	0.86[ASN][1000 genomes]
rs1343630	0.92[ASN][1000 genomes]
rs13524	0.88[ASN][1000 genomes]
rs1624335	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1743594	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1743595	0.88[ASN][1000 genomes]
rs1777239	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2636003	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2798137	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7518766	0.90[ASN][1000 genomes]
rs7543121	0.84[ASN][1000 genomes]
rs9429525	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][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	nsv1012324	chr1:114135133-114206843	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 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	chr1:114100600-114173400	Weak transcription	Gastric	stomach
2	chr1:114119200-114145200	Weak transcription	Lung	lung
3	chr1:114119200-114172400	Weak transcription	Pancreas	Pancrea
4	chr1:114119200-114173000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:114122800-114142600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:114124400-114172400	Weak transcription	Aorta	Aorta
7	chr1:114126600-114157200	Weak transcription	HUVEC	blood vessel
8	chr1:114132600-114143200	Weak transcription	NH-A	brain
9	chr1:114133400-114141000	Weak transcription	HMEC	breast
10	chr1:114134600-114166400	Weak transcription	Hela-S3	cervix
11	chr1:114135400-114140600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:114135400-114141600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:114135800-114141800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:114136200-114141200	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr1:114136600-114140800	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr1:114136800-114142000	Weak transcription	Brain Angular Gyrus	brain
17	chr1:114136800-114158800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:114137000-114141800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:114137000-114142000	Weak transcription	HSMMtube	muscle
20	chr1:114137000-114142400	Weak transcription	Fetal Thymus	thymus
21	chr1:114137000-114144000	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:114137000-114145200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:114137400-114141400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:114138000-114142600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:114138200-114140600	ZNF genes & repeats	Fetal Kidney	kidney
26	chr1:114138400-114140600	Strong transcription	NHDF-Ad	bronchial
27	chr1:114138400-114141000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:114138800-114140600	ZNF genes & repeats	Fetal Lung	lung
29	chr1:114138800-114141000	ZNF genes & repeats	Fetal Intestine Large	intestine
30	chr1:114138800-114141200	ZNF genes & repeats	Primary T cells from cord blood	blood
31	chr1:114138800-114141200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr1:114138800-114141400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:114138800-114141400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:114138800-114141600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:114139400-114140600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:114139400-114140600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
37	chr1:114139400-114140600	Strong transcription	A549	lung
38	chr1:114139400-114141000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:114139400-114141200	ZNF genes & repeats	Fetal Brain Female	brain
40	chr1:114139400-114141400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:114139400-114142000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:114139600-114140600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
43	chr1:114139600-114140600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
44	chr1:114139600-114140600	ZNF genes & repeats	Fetal Heart	heart
45	chr1:114139600-114140600	ZNF genes & repeats	HepG2	liver
46	chr1:114139600-114141600	ZNF genes & repeats	Liver	Liver
47	chr1:114139800-114141400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
48	chr1:114139800-114157400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:114139800-114160000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr1:114140000-114140600	ZNF genes & repeats	Adipose Nuclei	Adipose

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