Variant report

Variant	rs12999917
Chromosome Location	chr2:30875580-30875581
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30873034..30877433-chr2:30878993..30882629,5	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]
rs13024015	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1447186	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1447187	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1470533	0.93[ASN][1000 genomes]
rs1470534	0.93[ASN][1000 genomes]
rs1470536	0.93[ASN][1000 genomes]
rs1869429	0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2593458	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2593459	0.84[ASN][1000 genomes]
rs2593460	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2593461	0.93[ASN][1000 genomes]
rs2593462	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2593464	0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2593465	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2593466	0.93[ASN][1000 genomes]
rs2602780	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2602782	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2602783	0.93[ASN][1000 genomes]
rs2602784	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2602785	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2602786	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2602789	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2602790	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2602791	0.93[ASN][1000 genomes]
rs2602792	0.93[ASN][1000 genomes]
rs2602798	0.82[AFR][1000 genomes]
rs2609917	0.88[AFR][1000 genomes]
rs2609952	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2609955	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2609956	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2609958	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs57203147	0.80[AFR][1000 genomes]
rs62142163	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs895662	0.93[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	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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30845600-30877800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:30845800-30877800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:30860400-30878200	Weak transcription	NHLF	lung
4	chr2:30861400-30876800	Weak transcription	Fetal Heart	heart
5	chr2:30863600-30882200	Weak transcription	Ovary	ovary
6	chr2:30864800-30876600	Weak transcription	Osteobl	bone
7	chr2:30865200-30877000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:30865200-30878200	Weak transcription	A549	lung
9	chr2:30869200-30878000	Weak transcription	Psoas Muscle	Psoas
10	chr2:30872200-30876600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:30872400-30878200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:30872400-30878200	Weak transcription	Left Ventricle	heart
13	chr2:30872600-30876400	Weak transcription	NHDF-Ad	bronchial
14	chr2:30872600-30876600	Weak transcription	Right Ventricle	heart
15	chr2:30872600-30877600	Weak transcription	HSMMtube	muscle
16	chr2:30873000-30876400	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:30873000-30876800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:30873600-30876200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:30874400-30875800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr2:30874400-30876000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr2:30874400-30876400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:30874600-30875800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:30874600-30875800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr2:30874600-30876000	Enhancers	H9 Cell Line	embryonic stem cell
25	chr2:30874600-30876200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:30874800-30875800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:30875000-30875800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr2:30875200-30875600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr2:30875200-30875600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:30875200-30875600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:30875200-30876000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr2:30875200-30876000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:30875200-30879400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:30875400-30875600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr2:30875400-30875600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr2:30875400-30875800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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