Variant report

Variant	rs890482
Chromosome Location	chr2:64492935-64492936
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:64280836..64282865-chr2:64492384..64494313,2	MCF-7	breast:
2	chr2:64489082..64492227-chr2:64492884..64497005,5	MCF-7	breast:
3	chr2:64488099..64490246-chr2:64490970..64494395,3	K562	blood:
4	chr2:64490659..64493693-chr2:64499650..64502494,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1019685	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs1019686	0.83[CEU][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs1025209	0.85[EUR][1000 genomes]
rs1025210	0.85[EUR][1000 genomes]
rs1365482	0.84[EUR][1000 genomes]
rs1426710	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1529101	0.84[EUR][1000 genomes]
rs1582792	0.85[EUR][1000 genomes]
rs2059634	0.84[EUR][1000 genomes]
rs2114432	0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs2247947	0.84[EUR][1000 genomes]
rs2251764	0.96[CEU][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2254856	0.82[ASN][1000 genomes]
rs2555425	0.85[EUR][1000 genomes]
rs2555426	0.85[EUR][1000 genomes]
rs2555434	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs2555436	0.84[EUR][1000 genomes]
rs2555437	0.83[EUR][1000 genomes]
rs2555438	0.84[EUR][1000 genomes]
rs2555441	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2555442	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2698523	0.84[EUR][1000 genomes]
rs2698526	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2698527	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2698530	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2698541	0.96[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2951018	0.83[EUR][1000 genomes]
rs6750096	0.84[EUR][1000 genomes]
rs869739	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs871776	0.87[CEU][hapmap];0.91[GIH][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap];0.89[YRI][hapmap];0.83[EUR][1000 genomes]
rs890481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv34698	chr2:64312142-64521366	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	esv34955	chr2:64312182-64521290	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv1006553	chr2:64339907-64764771	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
9	nsv9957	chr2:64341714-64518231	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	esv13275	chr2:64342247-64515169	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv1012905	chr2:64342469-64508983	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv1013735	chr2:64342469-64512286	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	esv3693324	chr2:64342469-64513207	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	nsv999608	chr2:64342469-64517459	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
15	nsv1000390	chr2:64343861-64512286	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
16	esv2756924	chr2:64349202-64521290	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
17	nsv1004899	chr2:64369300-64513607	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
18	nsv535769	chr2:64369300-64513607	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
19	nsv1015084	chr2:64369734-64512286	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
20	nsv1005492	chr2:64452441-64588323	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
21	nsv834244	chr2:64480943-64646259	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64487000-64494800	Weak transcription	Fetal Heart	heart
2	chr2:64487000-64495200	Weak transcription	Fetal Lung	lung
3	chr2:64487000-64500000	Weak transcription	Psoas Muscle	Psoas
4	chr2:64488000-64493000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:64488000-64493400	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:64488000-64493400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:64488200-64493600	Genic enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:64489200-64493600	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:64489200-64494400	Weak transcription	Right Atrium	heart
10	chr2:64489400-64494200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:64489600-64499200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:64490000-64493400	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:64490200-64500200	Weak transcription	Lung	lung
14	chr2:64490400-64494600	Weak transcription	HSMMtube	muscle
15	chr2:64490400-64496000	Weak transcription	Fetal Intestine Small	intestine
16	chr2:64490400-64500000	Weak transcription	Left Ventricle	heart
17	chr2:64490600-64494800	Weak transcription	Right Ventricle	heart
18	chr2:64490600-64499400	Weak transcription	Primary B cells from cord blood	blood
19	chr2:64490800-64494400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:64490800-64494400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:64490800-64494600	Weak transcription	Osteobl	bone
22	chr2:64490800-64494800	Weak transcription	Fetal Stomach	stomach
23	chr2:64490800-64495200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:64490800-64495800	Weak transcription	Spleen	Spleen
25	chr2:64490800-64500200	Weak transcription	Small Intestine	intestine
26	chr2:64491000-64495000	Weak transcription	NHDF-Ad	bronchial
27	chr2:64491000-64495200	Weak transcription	NHLF	lung
28	chr2:64491200-64494400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:64491200-64494800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:64491200-64494800	Weak transcription	Adipose Nuclei	Adipose
31	chr2:64491200-64494800	Weak transcription	Fetal Kidney	kidney
32	chr2:64491600-64493000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr2:64491600-64494600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:64491600-64494600	Weak transcription	HMEC	breast
35	chr2:64491600-64494600	Weak transcription	NHEK	skin
36	chr2:64491600-64499400	Weak transcription	Placenta	Placenta
37	chr2:64491800-64494200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:64491800-64496800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr2:64492000-64493200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:64492200-64493400	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr2:64492200-64493600	Genic enhancers	H1 Cell Line	embryonic stem cell
42	chr2:64492200-64494800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr2:64492400-64493000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:64492400-64494400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:64492400-64494800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:64492600-64493000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:64492600-64493600	Weak transcription	HUVEC	blood vessel
48	chr2:64492600-64495800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr2:64492800-64493200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:64492800-64493600	Genic enhancers	HUES48 Cell Line	embryonic stem cell

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