Variant report

Variant	rs11892710
Chromosome Location	chr2:46960338-46960339
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46942841..46944899-chr2:46960236..46962227,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10495938	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11889273	0.87[AFR][1000 genomes]
rs11892177	0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11893159	1.00[ASN][1000 genomes]
rs11893443	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11893955	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11901688	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11903382	0.88[AFR][1000 genomes]
rs17771005	0.90[AFR][1000 genomes]
rs17771237	0.93[AFR][1000 genomes]
rs17771255	0.93[AFR][1000 genomes]
rs17771357	0.91[AFR][1000 genomes]
rs17772309	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs17821941	1.00[ASN][1000 genomes]
rs17822668	0.89[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs17822704	0.89[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs41320947	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs41349351	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs41370847	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41375646	0.93[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs41379147	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs41432848	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs41478946	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4575769	0.85[AFR][1000 genomes]
rs62134765	0.89[AFR][1000 genomes]
rs6721999	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731970	0.90[AFR][1000 genomes]
rs6749450	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72802460	0.83[AFR][1000 genomes]
rs7591613	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7606134	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9677272	0.82[AFR][1000 genomes]
rs9677705	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
5	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
6	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:69 , 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	chr2:46947600-46975600	Weak transcription	HSMM	muscle
3	chr2:46948200-46962000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:46948200-46964400	Weak transcription	NHEK	skin
5	chr2:46948200-46967400	Weak transcription	Esophagus	oesophagus
6	chr2:46948200-46974600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:46948200-46977200	Weak transcription	Aorta	Aorta
8	chr2:46948400-46961600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:46948600-46964200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:46948600-46964400	Weak transcription	NH-A	brain
11	chr2:46948600-46974400	Weak transcription	Fetal Stomach	stomach
12	chr2:46950800-46975400	Weak transcription	Fetal Lung	lung
13	chr2:46951400-46962200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:46952000-46961800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:46952600-46962000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:46953400-46964400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:46955000-46975400	Weak transcription	Small Intestine	intestine
18	chr2:46955200-46961800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:46955200-46964600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:46955200-46967600	Weak transcription	Thymus	Thymus
21	chr2:46955200-46970400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:46955200-46974400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:46955200-46984800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr2:46955200-46985400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr2:46955400-46962000	Weak transcription	Liver	Liver
26	chr2:46955400-46962000	Weak transcription	Pancreas	Pancrea
27	chr2:46955400-46962000	Weak transcription	Psoas Muscle	Psoas
28	chr2:46955400-46962000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:46955400-46967600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr2:46955400-46967800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:46955400-46967800	Weak transcription	Fetal Thymus	thymus
32	chr2:46955400-46974200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:46956000-46964200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:46956000-46975400	Weak transcription	Lung	lung
35	chr2:46956000-46980000	Weak transcription	Right Atrium	heart
36	chr2:46956200-46962000	Weak transcription	Left Ventricle	heart
37	chr2:46956200-46962000	Weak transcription	Right Ventricle	heart
38	chr2:46956200-46963600	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr2:46957400-46973200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:46958000-46964600	Weak transcription	HMEC	breast
41	chr2:46958800-46964200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr2:46959000-46962000	Weak transcription	Primary B cells from cord blood	blood
43	chr2:46959200-46962000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:46959200-46962400	Weak transcription	Brain Anterior Caudate	brain
45	chr2:46959400-46961200	Enhancers	A549	lung
46	chr2:46959600-46960800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:46959600-46960800	Weak transcription	NHDF-Ad	bronchial
48	chr2:46959600-46961800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:46959600-46961800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:46959600-46962000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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