Variant report

Variant	rs1522113
Chromosome Location	chr4:56331771-56331772
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	chr4:56325354..56327815-chr4:56331564..56334423,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11722277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11722415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11723580	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11724300	1.00[AFR][1000 genomes]
rs11725081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11725422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11725439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11725592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11725738	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11727248	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11729092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11729403	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11732078	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11732684	1.00[AFR][1000 genomes]
rs11733959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11733966	1.00[AFR][1000 genomes]
rs11735654	0.95[EUR][1000 genomes]
rs17085763	0.97[EUR][1000 genomes]
rs28409498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28450557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34897046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35133040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35793438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv999477	chr4:56219035-56397180	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv537101	chr4:56219035-56397180	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1522113	GAP43	trans	lymphoblastoid	seeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56274600-56332200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:56290800-56340400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:56290800-56340600	Weak transcription	Thymus	Thymus
4	chr4:56293000-56354800	Weak transcription	Aorta	Aorta
5	chr4:56294000-56341200	Weak transcription	Small Intestine	intestine
6	chr4:56301600-56334800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:56301800-56332200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:56301800-56339200	Weak transcription	Fetal Brain Male	brain
9	chr4:56302400-56375600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:56303000-56340200	Weak transcription	Colon Smooth Muscle	Colon
11	chr4:56304000-56331800	Weak transcription	Esophagus	oesophagus
12	chr4:56304600-56365600	Weak transcription	Spleen	Spleen
13	chr4:56304800-56331800	Weak transcription	Gastric	stomach
14	chr4:56304800-56340000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr4:56304800-56375800	Weak transcription	Pancreas	Pancrea
16	chr4:56306000-56361200	Weak transcription	Stomach Mucosa	stomach
17	chr4:56307600-56340400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr4:56308800-56340400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr4:56314400-56336600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr4:56314400-56340200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr4:56314400-56340800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr4:56314400-56356400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr4:56314400-56377200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr4:56315000-56340600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr4:56315000-56340600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr4:56315200-56331800	Weak transcription	Psoas Muscle	Psoas
27	chr4:56315400-56357000	Weak transcription	Hela-S3	cervix
28	chr4:56315800-56341000	Weak transcription	Colonic Mucosa	Colon
29	chr4:56316200-56340400	Weak transcription	Fetal Heart	heart
30	chr4:56316400-56340200	Weak transcription	Fetal Thymus	thymus
31	chr4:56317000-56340000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:56317200-56340400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr4:56317800-56340200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr4:56318600-56331800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr4:56318600-56335000	Weak transcription	Ovary	ovary
36	chr4:56318600-56335600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:56318600-56335600	Weak transcription	Brain Germinal Matrix	brain
38	chr4:56318600-56363400	Weak transcription	HepG2	liver
39	chr4:56318800-56332200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr4:56318800-56332400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr4:56318800-56336200	Weak transcription	Fetal Lung	lung
42	chr4:56318800-56336400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr4:56318800-56340200	Weak transcription	A549	lung
44	chr4:56318800-56340400	Weak transcription	HSMMtube	muscle
45	chr4:56318800-56352400	Weak transcription	K562	blood
46	chr4:56318800-56358400	Weak transcription	Right Ventricle	heart
47	chr4:56319600-56340200	Weak transcription	Fetal Brain Female	brain
48	chr4:56321600-56331800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr4:56321800-56334400	Weak transcription	Primary T cells from cord blood	blood
50	chr4:56321800-56334800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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