Variant report

Variant	rs56953385
Chromosome Location	chr2:46954357-46954358
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	chr2:46953820..46955350-chr2:46958244..46960079,2	K562	blood:
2	chr2:46921430..46924294-chr2:46954187..46957185,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11889273	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11903382	1.00[ASN][1000 genomes]
rs17771005	1.00[ASN][1000 genomes]
rs17771237	0.91[ASN][1000 genomes]
rs17771255	0.91[ASN][1000 genomes]
rs17771357	0.91[ASN][1000 genomes]
rs4575769	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62134765	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6731970	1.00[ASN][1000 genomes]
rs6735101	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72802460	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72802489	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9677272	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9677705	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv533112	chr2:46800828-46959977	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
6	nsv873997	chr2:46821640-46984627	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1013079	chr2:46949337-46998417	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46945400-46985400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:46947000-46954600	Weak transcription	HUVEC	blood vessel
3	chr2:46947000-46954800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:46947600-46975600	Weak transcription	HSMM	muscle
5	chr2:46948000-46954600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:46948000-46954600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr2:46948000-46954600	Weak transcription	Thymus	Thymus
8	chr2:46948200-46954400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:46948200-46954600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:46948200-46954600	Weak transcription	Left Ventricle	heart
11	chr2:46948200-46954600	Weak transcription	Right Ventricle	heart
12	chr2:46948200-46954800	Weak transcription	Pancreas	Pancrea
13	chr2:46948200-46955000	Weak transcription	Ovary	ovary
14	chr2:46948200-46955800	Weak transcription	Lung	lung
15	chr2:46948200-46956600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:46948200-46962000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:46948200-46964400	Weak transcription	NHEK	skin
18	chr2:46948200-46967400	Weak transcription	Esophagus	oesophagus
19	chr2:46948200-46974600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr2:46948200-46977200	Weak transcription	Aorta	Aorta
21	chr2:46948400-46954600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr2:46948400-46954800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr2:46948400-46961600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:46948600-46954600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr2:46948600-46964200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:46948600-46964400	Weak transcription	NH-A	brain
27	chr2:46948600-46974400	Weak transcription	Fetal Stomach	stomach
28	chr2:46948800-46955200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:46949000-46954600	Weak transcription	Psoas Muscle	Psoas
30	chr2:46949000-46954600	Weak transcription	Small Intestine	intestine
31	chr2:46949000-46954800	Weak transcription	Brain Hippocampus Middle	brain
32	chr2:46949600-46958400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:46949800-46954600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:46950000-46954600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:46950800-46954600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:46950800-46958200	Weak transcription	NHLF	lung
37	chr2:46950800-46975400	Weak transcription	Fetal Lung	lung
38	chr2:46951400-46954600	Weak transcription	Fetal Heart	heart
39	chr2:46951400-46962200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:46951600-46954600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:46951600-46954600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr2:46951800-46954600	Weak transcription	Colon Smooth Muscle	Colon
43	chr2:46951800-46959000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:46952000-46954400	Weak transcription	Osteobl	bone
45	chr2:46952000-46954600	Weak transcription	Primary T cells from cord blood	blood
46	chr2:46952000-46954600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:46952000-46955200	Weak transcription	Primary B cells from cord blood	blood
48	chr2:46952000-46961800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr2:46952200-46954400	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr2:46952200-46954400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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