Variant report

Variant	rs2698527
Chromosome Location	chr2:64499629-64499630
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64494301..64495818-chr2:64498952..64501759,2	MCF-7	breast:
2	chr2:64495609..64497213-chr2:64499449..64501567,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1019686	0.86[TSI][hapmap]
rs1426710	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2114432	0.83[CHD][hapmap];0.88[JPT][hapmap]
rs2251764	0.84[CEU][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2254856	0.81[ASN][1000 genomes]
rs2555441	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2555442	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2698526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2698530	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2698541	0.84[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs869739	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs871776	0.91[GIH][hapmap];0.86[TSI][hapmap]
rs890481	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs890482	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64487000-64500000	Weak transcription	Psoas Muscle	Psoas
2	chr2:64490200-64500200	Weak transcription	Lung	lung
3	chr2:64490400-64500000	Weak transcription	Left Ventricle	heart
4	chr2:64490800-64500200	Weak transcription	Small Intestine	intestine
5	chr2:64493200-64501000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:64495200-64500000	Weak transcription	Brain Substantia Nigra	brain
7	chr2:64495200-64501000	Weak transcription	Right Ventricle	heart
8	chr2:64495800-64500000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:64496000-64500000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:64496000-64500000	Weak transcription	NHLF	lung
11	chr2:64496000-64500000	Weak transcription	Osteobl	bone
12	chr2:64496200-64499800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:64496200-64500000	Weak transcription	Fetal Lung	lung
14	chr2:64496200-64500000	Weak transcription	NH-A	brain
15	chr2:64496400-64500000	Weak transcription	Fetal Heart	heart
16	chr2:64497000-64501000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:64497400-64499800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:64497600-64499800	Weak transcription	HUVEC	blood vessel
19	chr2:64497800-64500000	Weak transcription	Spleen	Spleen
20	chr2:64498000-64500000	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr2:64498000-64500800	Weak transcription	Pancreas	Pancrea
22	chr2:64498400-64500000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:64498400-64501600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr2:64498600-64505000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:64498800-64504000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr2:64499200-64500000	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr2:64499200-64500800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr2:64499200-64501000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:64499200-64501200	Enhancers	HMEC	breast
30	chr2:64499200-64504600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:64499200-64505600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr2:64499200-64507600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr2:64499400-64500000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:64499400-64500200	Enhancers	Primary B cells from cord blood	blood
35	chr2:64499400-64500600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:64499400-64500600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:64499400-64500600	Enhancers	NHEK	skin
38	chr2:64499400-64500800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:64499400-64501000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr2:64499400-64501000	Enhancers	Duodenum Mucosa	Duodenum
41	chr2:64499400-64501000	Enhancers	Placenta	Placenta
42	chr2:64499400-64501400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:64499400-64501400	Genic enhancers	H9 Cell Line	embryonic stem cell
44	chr2:64499400-64501400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr2:64499400-64501600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:64499400-64501600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:64499400-64501600	Enhancers	Fetal Muscle Leg	muscle
48	chr2:64499400-64501600	Enhancers	NHDF-Ad	bronchial
49	chr2:64499400-64502000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr2:64499400-64502200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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