Variant report

Variant	rs1286
Chromosome Location	chr2:30866992-30866993
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	chr2:30866947..30869047-chr2:30869143..30871287,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1060737	0.87[ASN][1000 genomes]
rs11127281	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11692096	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11895131	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11901266	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1252627	0.82[EUR][1000 genomes]
rs1252632	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1252633	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1252634	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1252635	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1252642	0.81[AFR][1000 genomes]
rs1252645	0.81[AFR][1000 genomes]
rs17395007	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17395091	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1807334	0.87[ASN][1000 genomes]
rs1869422	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2244911	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2250956	0.87[ASN][1000 genomes]
rs2253299	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2262947	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2593436	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2593445	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2593446	0.84[ASN][1000 genomes]
rs2593473	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2602781	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2602795	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2602796	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2602803	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2602809	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2609919	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2609920	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2609944	0.87[ASN][1000 genomes]
rs2609957	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2609961	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs711241	0.81[ASN][1000 genomes]
rs73922662	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7559747	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs829566	0.81[ASN][1000 genomes]
rs829568	0.81[ASN][1000 genomes]
rs829621	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829624	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829625	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829633	0.81[AFR][1000 genomes]
rs829643	0.81[ASN][1000 genomes]
rs829652	0.81[ASN][1000 genomes]
rs829674	0.81[ASN][1000 genomes]
rs829676	0.81[ASN][1000 genomes]
rs829678	0.81[ASN][1000 genomes]
rs829683	0.81[ASN][1000 genomes]
rs829685	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	nsv581266	chr2:30864789-30874229	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
3	nsv215004	chr2:30865289-30869535	Weak transcription Enhancers Strong transcription	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30835800-30871200	Weak transcription	Small Intestine	intestine
2	chr2:30841800-30872200	Weak transcription	Spleen	Spleen
3	chr2:30845600-30877800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:30845800-30877800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:30850200-30874600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:30850400-30869200	Weak transcription	Gastric	stomach
7	chr2:30850400-30874600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:30853200-30867200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:30853200-30872000	Weak transcription	NHDF-Ad	bronchial
10	chr2:30854000-30867000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:30854200-30867600	Weak transcription	Psoas Muscle	Psoas
12	chr2:30855600-30867200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:30857000-30869000	Weak transcription	Hela-S3	cervix
14	chr2:30859600-30872000	Weak transcription	Fetal Stomach	stomach
15	chr2:30860400-30878200	Weak transcription	NHLF	lung
16	chr2:30861400-30876800	Weak transcription	Fetal Heart	heart
17	chr2:30861600-30872200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:30862000-30868600	Weak transcription	Brain Substantia Nigra	brain
19	chr2:30862400-30868400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:30863200-30871800	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:30863600-30882200	Weak transcription	Ovary	ovary
22	chr2:30863800-30871800	Weak transcription	HSMMtube	muscle
23	chr2:30864000-30868600	Weak transcription	Lung	lung
24	chr2:30864000-30870800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:30864000-30872000	Weak transcription	Right Ventricle	heart
26	chr2:30864000-30874800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:30864200-30868000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:30864200-30868200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr2:30864200-30868800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:30864200-30869400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:30864200-30871000	Weak transcription	Fetal Muscle Leg	muscle
32	chr2:30864200-30871800	Weak transcription	Left Ventricle	heart
33	chr2:30864200-30872200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:30864400-30869400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr2:30864600-30869200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr2:30864800-30875200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:30864800-30876600	Weak transcription	Osteobl	bone
38	chr2:30865000-30871800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr2:30865000-30872200	Weak transcription	Aorta	Aorta
40	chr2:30865000-30875200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:30865200-30867000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:30865200-30868000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:30865200-30868200	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr2:30865200-30868800	Weak transcription	Dnd41	blood
45	chr2:30865200-30869000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr2:30865200-30872000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr2:30865200-30872200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr2:30865200-30873000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:30865200-30877000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:30865200-30878200	Weak transcription	A549	lung

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