Variant report

Variant	rs2247924
Chromosome Location	chr2:187611748-187611749
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:187605682..187607302-chr2:187609451..187611833,2	MCF-7	breast:
2	chr2:187610996..187613793-chr2:187616587..187618211,2	K562	blood:
3	chr2:187610190..187612496-chr2:187615371..187618087,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1349170	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1375447	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1449088	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1449090	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1449091	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470602	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs16828108	1.00[CHB][hapmap]
rs1839122	1.00[CHB][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2122177	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2167013	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2442316	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2442318	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2594702	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2594703	0.83[ASW][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.91[MEX][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2594704	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.91[MEX][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2595377	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595379	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595388	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2682852	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2682853	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2682854	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2682858	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682859	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2682860	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2682861	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682866	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2682869	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2682870	1.00[CHB][hapmap];0.91[CHD][hapmap];0.91[MEX][hapmap];0.86[MKK][hapmap]
rs2682872	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2682874	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3738918	1.00[CHB][hapmap];0.91[CHD][hapmap]
rs3754584	1.00[CHB][hapmap]
rs4309547	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57306419	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59855103	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6761687	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73035695	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7556971	1.00[CHB][hapmap]
rs976693	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv428069	chr2:187575692-187766209	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187592200-187618600	Weak transcription	Osteobl	bone
2	chr2:187596600-187626200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:187598600-187621200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:187599600-187631000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:187600000-187613200	Weak transcription	Pancreas	Pancrea
6	chr2:187603000-187612800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:187603200-187626400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:187603200-187626600	Weak transcription	Fetal Stomach	stomach
9	chr2:187603400-187612600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:187603400-187612800	Weak transcription	Brain Anterior Caudate	brain
11	chr2:187603400-187613000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:187603400-187626400	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:187603600-187626600	Weak transcription	Left Ventricle	heart
14	chr2:187603800-187611800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:187603800-187612800	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:187603800-187621200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:187604000-187613200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:187604000-187618600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:187604800-187613000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:187605000-187626200	Weak transcription	NHDF-Ad	bronchial
21	chr2:187605000-187626400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:187605400-187612800	Weak transcription	Fetal Brain Female	brain
23	chr2:187605600-187619200	Weak transcription	Ovary	ovary
24	chr2:187606000-187612800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:187606200-187612400	Weak transcription	Brain Germinal Matrix	brain
26	chr2:187607000-187619600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:187607400-187626200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:187608600-187614800	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:187608600-187616600	Weak transcription	Fetal Brain Male	brain
30	chr2:187608800-187621200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:187609600-187617400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:187609800-187616400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:187609800-187621400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:187610000-187619600	Weak transcription	NH-A	brain
35	chr2:187610000-187621200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:187610200-187612800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr2:187610200-187612800	Weak transcription	HUVEC	blood vessel
38	chr2:187610200-187616200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:187610400-187612600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr2:187610400-187612600	Weak transcription	Brain Substantia Nigra	brain
41	chr2:187610800-187612600	Weak transcription	Fetal Lung	lung
42	chr2:187610800-187621200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:187611000-187621400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:187611000-187626400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:187611000-187628800	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr2:187611000-187628800	Weak transcription	HSMM	muscle
47	chr2:187611400-187611800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:187611400-187613000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:187611400-187616600	Weak transcription	Brain Angular Gyrus	brain
50	chr2:187611600-187611800	Enhancers	HUES48 Cell Line	embryonic stem cell

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