Variant report

Variant	rs4146063
Chromosome Location	chr2:96561651-96561652
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12052684	0.87[ASN][1000 genomes]
rs12053279	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12053473	0.88[ASN][1000 genomes]
rs2293544	0.96[EUR][1000 genomes]
rs35056623	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57273135	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs59534363	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707224	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs67216602	0.87[ASN][1000 genomes]
rs72492169	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823927	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72823940	0.87[EUR][1000 genomes]
rs72931721	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3416818	chr2:96072529-96680708	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv874660	chr2:96091132-96669134	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv516044	chr2:96150959-96683378	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv1003371	chr2:96326106-96684876	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv874662	chr2:96334397-96578621	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv874665	chr2:96370571-96596515	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv874666	chr2:96370571-96691125	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv1004482	chr2:96408987-96596717	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv428054	chr2:96438238-96627125	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv961832	chr2:96453677-96671971	Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv874667	chr2:96465201-96596515	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv874668	chr2:96465201-96600569	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region lncRNA	4 gene(s)	inside rSNPs	diseases
13	esv1826589	chr2:96468292-96583910	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region lncRNA	4 gene(s)	inside rSNPs	diseases
14	esv1826305	chr2:96468492-96583710	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers	TF binding region lncRNA	4 gene(s)	inside rSNPs	diseases
15	esv1848259	chr2:96477989-96583252	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv834304	chr2:96493545-96667472	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv10093	chr2:96524159-96583335	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
18	esv1847850	chr2:96532929-96582175	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv508154	chr2:96534336-96609925	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
20	esv1849015	chr2:96534572-96581975	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
21	nsv1004486	chr2:96544604-96684876	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
22	esv1847704	chr2:96545150-96583452	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
23	esv3506800	chr2:96545563-96588565	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
24	esv3506801	chr2:96545563-96588565	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
25	nsv874669	chr2:96547820-96691125	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
26	esv1010947	chr2:96549314-96586310	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
27	esv1797061	chr2:96550572-96582175	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
28	esv1793058	chr2:96553765-96583121	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
29	nsv818073	chr2:96554851-96683378	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
30	esv1795949	chr2:96554897-96583452	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
31	esv1825688	chr2:96555097-96583710	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
32	esv16343	chr2:96556623-96579733	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96502800-96585000	Weak transcription	Left Ventricle	heart
2	chr2:96502800-96616600	Weak transcription	Fetal Stomach	stomach
3	chr2:96503000-96563600	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:96506600-96562000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:96536000-96576800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:96541000-96582000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:96541000-96595400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:96541600-96595200	Weak transcription	Fetal Brain Male	brain
9	chr2:96543800-96596200	Weak transcription	K562	blood
10	chr2:96544600-96561800	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:96545000-96576400	Weak transcription	Brain Germinal Matrix	brain
12	chr2:96546000-96577400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:96546800-96562200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr2:96547000-96586400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:96547600-96575800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:96548000-96563000	Weak transcription	Right Ventricle	heart
17	chr2:96548200-96564200	Weak transcription	A549	lung
18	chr2:96549600-96563000	Weak transcription	Liver	Liver
19	chr2:96549800-96576400	Weak transcription	Thymus	Thymus
20	chr2:96549800-96576600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:96549800-96579600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:96549800-96580200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr2:96549800-96588600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr2:96549800-96590600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr2:96550000-96562000	Weak transcription	Placenta	Placenta
26	chr2:96551400-96600800	Weak transcription	Brain Angular Gyrus	brain
27	chr2:96551800-96588600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr2:96552400-96576200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:96552400-96595400	Weak transcription	Fetal Kidney	kidney
30	chr2:96554000-96580400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:96554200-96588600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr2:96556000-96576400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr2:96556000-96583800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:96556200-96562000	Weak transcription	HSMM	muscle
35	chr2:96556200-96562400	Weak transcription	NH-A	brain
36	chr2:96556200-96576800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:96556200-96577400	Weak transcription	Fetal Muscle Leg	muscle
38	chr2:96556200-96582000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:96556200-96582400	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr2:96556200-96583000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr2:96556200-96645000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr2:96556400-96576400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr2:96556400-96577200	Weak transcription	Primary T cells from cord blood	blood
44	chr2:96556400-96577600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr2:96556400-96578000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr2:96556400-96579800	Weak transcription	Fetal Brain Female	brain
47	chr2:96556400-96582200	Weak transcription	Primary B cells from cord blood	blood
48	chr2:96556400-96585000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:96556400-96598800	Weak transcription	Fetal Heart	heart
50	chr2:96556400-96628600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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