Variant report

Variant	rs72949064
Chromosome Location	chr2:98267482-98267483
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	chr17:57921586..57924009-chr2:98266096..98268897,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12999616	1.00[ASN][1000 genomes]
rs2071038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2290123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2309149	1.00[ASN][1000 genomes]
rs2922614	1.00[AMR][1000 genomes]
rs34516173	1.00[ASN][1000 genomes]
rs35958372	1.00[ASN][1000 genomes]
rs4069515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57875000	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58184071	1.00[AMR][1000 genomes]
rs58738348	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59168350	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59523945	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60753457	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6542982	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6716208	1.00[AMR][1000 genomes]
rs6727416	1.00[EUR][1000 genomes]
rs6753752	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72493438	1.00[ASN][1000 genomes]
rs72493444	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72493445	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72942846	1.00[AMR][1000 genomes]
rs72942852	1.00[AMR][1000 genomes]
rs72942859	1.00[AMR][1000 genomes]
rs72946446	1.00[AMR][1000 genomes]
rs72946451	1.00[AMR][1000 genomes]
rs72947032	1.00[AMR][1000 genomes]
rs72947033	1.00[AMR][1000 genomes]
rs72947062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72949085	1.00[AMR][1000 genomes]
rs72949092	1.00[AMR][1000 genomes]
rs72949095	1.00[AMR][1000 genomes]
rs7563002	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7582819	1.00[EUR][1000 genomes]
rs7608385	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
2	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
3	nsv431402	chr2:97669032-98281634	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv535831	chr2:97671335-98270990	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	esv2752937	chr2:97708611-98269110	Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	esv2756939	chr2:97708611-98274527	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	esv2763630	chr2:97731133-98279050	Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv431413	chr2:97753585-98274527	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv1011958	chr2:97886322-98269110	Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	nsv1001249	chr2:97972600-98274527	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv1005846	chr2:97972600-98281634	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
12	nsv1010905	chr2:98013814-98269110	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv1003384	chr2:98013814-98270884	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
14	nsv1010167	chr2:98013814-98273619	Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
15	nsv999627	chr2:98013814-98274527	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	nsv1009263	chr2:98013814-98281634	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
17	esv1829350	chr2:98170405-98315611	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
18	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98263200-98269400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:98263400-98272000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:98263600-98267800	Strong transcription	Fetal Muscle Trunk	muscle
4	chr2:98263800-98267800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:98263800-98267800	Strong transcription	Fetal Muscle Leg	muscle
6	chr2:98263800-98268000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:98263800-98268200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:98264000-98267600	Strong transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:98264000-98267800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:98264000-98267800	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:98264000-98267800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:98264000-98267800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:98264000-98267800	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:98264000-98267800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:98264000-98267800	Strong transcription	Adipose Nuclei	Adipose
16	chr2:98264000-98267800	Strong transcription	Brain Germinal Matrix	brain
17	chr2:98264000-98267800	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:98264000-98268000	Strong transcription	Primary B cells from cord blood	blood
19	chr2:98264000-98270600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:98264200-98267600	Strong transcription	HMEC	breast
21	chr2:98264200-98267800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:98264200-98267800	Strong transcription	Liver	Liver
23	chr2:98264200-98267800	Strong transcription	Brain Hippocampus Middle	brain
24	chr2:98264200-98267800	Strong transcription	Brain Inferior Temporal Lobe	brain
25	chr2:98264200-98267800	Strong transcription	Brain Substantia Nigra	brain
26	chr2:98264200-98267800	Strong transcription	Fetal Thymus	thymus
27	chr2:98264200-98268000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:98264200-98268000	Strong transcription	Primary T cells from cord blood	blood
29	chr2:98264200-98268000	Strong transcription	Lung	lung
30	chr2:98264200-98268000	Strong transcription	A549	lung
31	chr2:98264400-98267600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:98264400-98268000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:98264400-98268000	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:98264400-98270000	Weak transcription	Stomach Mucosa	stomach
35	chr2:98264600-98267600	Strong transcription	Primary B cells from peripheral blood	blood
36	chr2:98264600-98267800	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr2:98264600-98267800	Strong transcription	Left Ventricle	heart
38	chr2:98264600-98277400	Weak transcription	Right Atrium	heart
39	chr2:98265000-98270200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:98265000-98270400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:98265000-98270800	Weak transcription	Gastric	stomach
42	chr2:98265200-98267600	Weak transcription	Fetal Heart	heart
43	chr2:98265200-98270400	Weak transcription	Fetal Brain Male	brain
44	chr2:98265200-98270600	Weak transcription	Aorta	Aorta
45	chr2:98265200-98272000	Weak transcription	Brain Angular Gyrus	brain
46	chr2:98265200-98272800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr2:98265200-98276800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr2:98265200-98277200	Weak transcription	HUVEC	blood vessel
49	chr2:98265400-98273600	Weak transcription	Hela-S3	cervix
50	chr2:98265600-98270400	Weak transcription	Ovary	ovary

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