Variant report

Variant	rs9288045
Chromosome Location	chr2:180814194-180814195
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:180804951..180807735-chr2:180812353..180814788,2	K562	blood:
2	chr2:180810446..180815338-chr2:180815849..180820323,6	K562	blood:
3	chr2:180813061..180815715-chr2:180844153..180846145,2	K562	blood:
4	chr2:180812825..180815255-chr2:180816104..180818371,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12465592	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12468986	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12693214	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12693215	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16867131	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1904850	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2367990	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs259810	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs259811	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2678936	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3843323	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3845701	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3856415	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56401468	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6433816	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6433818	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6433820	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6433821	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6722147	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6727890	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6733426	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6744281	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6759271	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72958863	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72960660	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72960664	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72960701	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72962517	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72962575	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs818661	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875472	chr2:180696414-181024926	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv875473	chr2:180696414-181055597	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv521134	chr2:180746041-180848488	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1006598	chr2:180766983-180923051	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv531444	chr2:180796233-181434590	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180792000-180816400	Weak transcription	Aorta	Aorta
2	chr2:180796400-180815000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:180797000-180815800	Weak transcription	Right Ventricle	heart
4	chr2:180797400-180815200	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:180797800-180818200	Weak transcription	Esophagus	oesophagus
6	chr2:180798000-180814200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:180798000-180816200	Weak transcription	Pancreas	Pancrea
8	chr2:180798200-180815000	Weak transcription	Brain Substantia Nigra	brain
9	chr2:180798600-180816000	Weak transcription	Fetal Heart	heart
10	chr2:180800200-180816200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:180801000-180836400	Weak transcription	Psoas Muscle	Psoas
12	chr2:180802000-180814400	Weak transcription	Fetal Brain Female	brain
13	chr2:180803400-180843600	Weak transcription	Fetal Brain Male	brain
14	chr2:180804000-180815000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:180804200-180816200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:180805000-180816000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr2:180805600-180831800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:180807000-180819400	Strong transcription	Primary B cells from cord blood	blood
19	chr2:180807000-180858400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:180807200-180816200	Weak transcription	Lung	lung
21	chr2:180807200-180816200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:180807400-180819200	Strong transcription	Adipose Nuclei	Adipose
23	chr2:180807800-180816000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:180807800-180820400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:180807800-180820600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:180808000-180819800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:180808000-180819800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:180808200-180818200	Weak transcription	Colonic Mucosa	Colon
29	chr2:180808200-180840000	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr2:180808200-180860400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr2:180808400-180816400	Weak transcription	Gastric	stomach
32	chr2:180808400-180819800	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr2:180808400-180820400	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:180808400-180820800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr2:180808600-180816200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:180808600-180816200	Weak transcription	Small Intestine	intestine
37	chr2:180808600-180819800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr2:180808600-180819800	Strong transcription	Fetal Thymus	thymus
39	chr2:180808600-180831400	Strong transcription	Primary B cells from peripheral blood	blood
40	chr2:180808800-180819600	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:180808800-180819600	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr2:180808800-180820200	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:180809000-180856000	Weak transcription	Fetal Stomach	stomach
44	chr2:180809200-180816200	Weak transcription	Spleen	Spleen
45	chr2:180809200-180819600	Strong transcription	Placenta	Placenta
46	chr2:180809200-180819800	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr2:180809200-180820000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:180809200-180820400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:180809200-180823600	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr2:180809200-180825000	Strong transcription	Primary T helper cells fromperipheralblood	blood

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