Variant report

Variant	rs58719199
Chromosome Location	chr2:96578247-96578248
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs11164053	0.82[AMR][1000 genomes]
rs11683523	0.83[AMR][1000 genomes]
rs11689832	0.82[AMR][1000 genomes]
rs11695514	0.82[AMR][1000 genomes]
rs12471925	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12477206	0.90[AMR][1000 genomes]
rs4605406	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4907217	0.89[AMR][1000 genomes]
rs4907220	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4907223	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs60273147	0.92[AMR][1000 genomes]
rs62153670	0.87[AMR][1000 genomes]
rs62153678	0.82[AMR][1000 genomes]
rs62153692	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 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
33	esv3402458	chr2:96576376-96580405	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs58719199	ADRA2B	cis	Nerve Tibial	GTEx
rs58719199	GPAT2	cis	Muscle Skeletal	GTEx
rs58719199	FAHD2CP	cis	Muscle Skeletal	GTEx
rs58719199	FAHD2CP	cis	Adipose Subcutaneous	GTEx
rs58719199	ADRA2B	cis	Thyroid	GTEx
rs58719199	ASTL	cis	Esophagus Mucosa	GTEx
rs58719199	FAHD2CP	cis	lung	GTEx

Chromatin state (count:94 , 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	chr2:96541000-96582000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:96541000-96595400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:96541600-96595200	Weak transcription	Fetal Brain Male	brain
6	chr2:96543800-96596200	Weak transcription	K562	blood
7	chr2:96547000-96586400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:96549800-96579600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:96549800-96580200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:96549800-96588600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr2:96549800-96590600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:96551400-96600800	Weak transcription	Brain Angular Gyrus	brain
13	chr2:96551800-96588600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:96552400-96595400	Weak transcription	Fetal Kidney	kidney
15	chr2:96554000-96580400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:96554200-96588600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr2:96556000-96583800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:96556200-96582000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:96556200-96582400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr2:96556200-96583000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:96556200-96645000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr2:96556400-96579800	Weak transcription	Fetal Brain Female	brain
23	chr2:96556400-96582200	Weak transcription	Primary B cells from cord blood	blood
24	chr2:96556400-96585000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:96556400-96598800	Weak transcription	Fetal Heart	heart
26	chr2:96556400-96628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:96556400-96645000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr2:96556600-96583200	Weak transcription	Fetal Lung	lung
29	chr2:96557400-96656800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr2:96558200-96580000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr2:96558200-96582000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr2:96558200-96583200	Weak transcription	Ovary	ovary
33	chr2:96558400-96583000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:96572000-96583200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:96573200-96584800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr2:96573600-96587800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:96574200-96629600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:96574600-96627600	Weak transcription	HSMM	muscle
39	chr2:96575000-96600600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr2:96575200-96579600	Weak transcription	Fetal Intestine Large	intestine
41	chr2:96575200-96585000	Weak transcription	Lung	lung
42	chr2:96575200-96589800	Weak transcription	Colonic Mucosa	Colon
43	chr2:96575600-96588600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:96575800-96578600	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr2:96575800-96580000	Enhancers	HUVEC	blood vessel
46	chr2:96575800-96592400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr2:96575800-96595600	Strong transcription	Dnd41	blood
48	chr2:96576000-96578600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:96576000-96580400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:96576000-96580600	Strong transcription	Fetal Thymus	thymus

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