Variant report

Variant	rs1252645
Chromosome Location	chr2:30741507-30741508
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30740997..30743225-chr2:30749540..30752188,2	MCF-7	breast:
2	chr2:30739882..30742523-chr2:30744802..30747234,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1036941	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11127281	0.85[EUR][1000 genomes]
rs11692096	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11895131	0.84[EUR][1000 genomes]
rs11901266	0.95[AFR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1252619	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1252627	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1252632	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1252633	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1252634	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1252635	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1252642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1286	0.81[AFR][1000 genomes]
rs1662943	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1662945	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17395007	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17395091	0.95[AFR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1869422	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2244911	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2253299	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2262947	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2593436	0.87[EUR][1000 genomes]
rs2593445	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2593473	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602795	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2602796	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2602803	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602809	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2609919	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2609920	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs711241	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73922662	0.98[AFR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7559747	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs829566	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs829567	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs829568	0.85[ASN][1000 genomes]
rs829621	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs829624	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs829625	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs829633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs829640	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs829643	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs829652	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs829656	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829657	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829674	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs829676	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs829678	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs829683	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs829685	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs829691	0.94[AMR][1000 genomes];0.88[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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30726200-30742600	Weak transcription	Pancreas	Pancrea
2	chr2:30729000-30764600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:30732800-30742000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:30733000-30756000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:30734800-30741600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:30734800-30742200	Weak transcription	Gastric	stomach
7	chr2:30734800-30764000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:30735000-30741600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:30735000-30741800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:30735000-30742600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr2:30735000-30742600	Weak transcription	HSMMtube	muscle
12	chr2:30735400-30741600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr2:30735400-30741600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr2:30735400-30741800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:30735400-30742200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:30735400-30742200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:30735400-30742600	Weak transcription	Fetal Intestine Large	intestine
18	chr2:30735600-30742800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:30736800-30752400	Weak transcription	Psoas Muscle	Psoas
20	chr2:30737000-30742400	Weak transcription	Left Ventricle	heart
21	chr2:30737600-30742000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:30737800-30741800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:30737800-30742600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:30738000-30741600	Weak transcription	Fetal Thymus	thymus
25	chr2:30738000-30741800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:30738000-30741800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:30738000-30742200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:30738000-30742600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:30738000-30742600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:30738000-30742600	Weak transcription	NHEK	skin
31	chr2:30738000-30750400	Weak transcription	Liver	Liver
32	chr2:30738000-30757000	Weak transcription	Ovary	ovary
33	chr2:30738200-30741800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:30738200-30741800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr2:30738200-30742600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:30738200-30742600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr2:30738200-30742600	Weak transcription	NHLF	lung
38	chr2:30738200-30742800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:30738200-30744000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr2:30738200-30750000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:30738200-30750800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:30738200-30750800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr2:30738200-30751000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:30738200-30752400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:30738200-30758200	Weak transcription	Right Ventricle	heart
46	chr2:30738400-30742000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr2:30738400-30742200	Weak transcription	Fetal Stomach	stomach
48	chr2:30738400-30748600	Weak transcription	Fetal Kidney	kidney
49	chr2:30738400-30756200	Weak transcription	Hela-S3	cervix
50	chr2:30738600-30741800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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