Variant report

Variant	rs9808480
Chromosome Location	chr2:101007916-101007917
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:101005691..101009453-chr2:101017314..101020656,3	MCF-7	breast:
2	chr2:101007069..101008727-chr2:101012346..101015344,2	MCF-7	breast:
3	chr2:100889322..100890930-chr2:101005825..101008578,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10164572	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10169580	1.00[EUR][1000 genomes]
rs10178929	1.00[EUR][1000 genomes]
rs10183462	1.00[EUR][1000 genomes]
rs10186689	1.00[EUR][1000 genomes]
rs10187094	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10188619	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10190243	1.00[EUR][1000 genomes]
rs10191099	1.00[EUR][1000 genomes]
rs10193186	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10194087	1.00[EUR][1000 genomes]
rs10194280	1.00[EUR][1000 genomes]
rs10197013	1.00[EUR][1000 genomes]
rs10205784	1.00[EUR][1000 genomes]
rs10207091	1.00[EUR][1000 genomes]
rs10207566	1.00[EUR][1000 genomes]
rs1107428	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11123831	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12329351	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13391540	1.00[EUR][1000 genomes]
rs13407391	1.00[EUR][1000 genomes]
rs13413021	1.00[EUR][1000 genomes]
rs13416287	1.00[EUR][1000 genomes]
rs13417574	1.00[EUR][1000 genomes]
rs13425645	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13427376	1.00[EUR][1000 genomes]
rs17024405	1.00[EUR][1000 genomes]
rs28485289	1.00[EUR][1000 genomes]
rs28549897	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28631885	1.00[EUR][1000 genomes]
rs4597550	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56377332	1.00[EUR][1000 genomes]
rs57231149	1.00[EUR][1000 genomes]
rs59036130	1.00[EUR][1000 genomes]
rs60292856	1.00[EUR][1000 genomes]
rs6542927	1.00[EUR][1000 genomes]
rs6542928	1.00[EUR][1000 genomes]
rs6542935	1.00[EUR][1000 genomes]
rs6723222	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6728399	1.00[AMR][1000 genomes]
rs6733677	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6734881	1.00[EUR][1000 genomes]
rs6742048	1.00[EUR][1000 genomes]
rs6755284	1.00[EUR][1000 genomes]
rs6759686	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72954123	1.00[EUR][1000 genomes]
rs73964443	1.00[EUR][1000 genomes]
rs73968406	1.00[EUR][1000 genomes]
rs7558887	1.00[AMR][1000 genomes]
rs7563037	1.00[EUR][1000 genomes]
rs7563227	0.84[AFR][1000 genomes]
rs7563954	1.00[EUR][1000 genomes]
rs7564318	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7566095	1.00[EUR][1000 genomes]
rs7569334	1.00[EUR][1000 genomes]
rs7585806	1.00[EUR][1000 genomes]
rs7609272	1.00[EUR][1000 genomes]
rs995110	1.00[EUR][1000 genomes]
rs995132	1.00[EUR][1000 genomes]
rs995133	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv874701	chr2:100976139-101023261	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100993200-101017800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:100997800-101008400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:100998200-101008400	Weak transcription	Dnd41	blood
4	chr2:100998200-101008800	Weak transcription	GM12878-XiMat	blood
5	chr2:100998200-101009000	Weak transcription	A549	lung
6	chr2:100998200-101022600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:100998400-101010000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr2:101000400-101009400	Weak transcription	HepG2	liver
9	chr2:101002000-101008200	Weak transcription	Right Ventricle	heart
10	chr2:101002000-101009000	Weak transcription	Gastric	stomach
11	chr2:101002000-101023400	Weak transcription	Psoas Muscle	Psoas
12	chr2:101002400-101008400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:101002400-101012000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:101003200-101021000	Weak transcription	K562	blood
15	chr2:101003400-101008200	Weak transcription	Lung	lung
16	chr2:101005000-101008200	Weak transcription	Aorta	Aorta
17	chr2:101005200-101008000	Weak transcription	Fetal Lung	lung
18	chr2:101005200-101008200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:101005200-101008200	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:101005200-101015000	Strong transcription	Fetal Brain Female	brain
21	chr2:101005400-101008200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:101005400-101008200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:101005600-101008200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:101005600-101008200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:101005600-101008600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:101005600-101017600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:101005600-101032800	Weak transcription	HUVEC	blood vessel
28	chr2:101005800-101033000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr2:101006000-101008200	Weak transcription	Fetal Thymus	thymus
30	chr2:101006000-101008600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:101006000-101009200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:101006000-101021600	Weak transcription	Colon Smooth Muscle	Colon
33	chr2:101006200-101008000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr2:101006400-101008000	Weak transcription	Primary T cells from cord blood	blood
35	chr2:101006400-101018400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:101006600-101008200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr2:101006600-101008200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:101006600-101008200	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr2:101006600-101008200	Weak transcription	Spleen	Spleen
40	chr2:101006600-101008600	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr2:101006600-101009000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr2:101006600-101009000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:101006600-101023600	Strong transcription	Brain Germinal Matrix	brain
44	chr2:101006600-101031600	Strong transcription	Fetal Stomach	stomach
45	chr2:101006800-101008200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:101006800-101008400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:101006800-101014800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:101007000-101008200	Weak transcription	Pancreas	Pancrea
49	chr2:101007000-101008600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:101007000-101025000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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