Variant report

Variant	rs2373816
Chromosome Location	chr7:150271129-150271130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10235836	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10237091	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10237569	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10238055	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10238068	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10254007	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12534014	0.82[JPT][hapmap]
rs12538768	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12538773	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1317559	0.82[CEU][hapmap]
rs1403221	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1403222	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1522595	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1568628	1.00[CEU][hapmap]
rs1879865	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1879866	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1879867	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1879871	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1879872	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1916002	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1916010	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1969393	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2090955	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2140140	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2140141	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2204129	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2204130	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2272092	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2373807	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2373808	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2373809	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2373811	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2373813	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2888666	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3946494	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4725346	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4725347	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4725915	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4725916	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62491782	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6464075	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6464078	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6464080	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6464082	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6946579	0.81[JPT][hapmap]
rs6949018	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6960291	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6980388	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7785909	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7792574	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7808866	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs939957	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs939958	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9632622	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9691770	0.92[EUR][1000 genomes]
rs9986804	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	esv3395746	chr7:150181141-150300680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	esv16529	chr7:150249312-150312843	Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	esv2758617	chr7:150251949-150463804	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	esv2759573	chr7:150251949-150463804	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2373816	GIMAP4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150265200-150271400	Weak transcription	Gastric	stomach
2	chr7:150267000-150271400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr7:150267000-150272400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr7:150267200-150271400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:150267800-150278200	Weak transcription	Primary B cells from cord blood	blood
6	chr7:150268000-150271400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
7	chr7:150268000-150271400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
8	chr7:150268000-150272000	Weak transcription	Brain Substantia Nigra	brain
9	chr7:150268200-150271200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:150268200-150271400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
11	chr7:150268200-150271400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr7:150268200-150271600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
13	chr7:150268400-150271200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
14	chr7:150268400-150271200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
15	chr7:150268400-150271400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
16	chr7:150268400-150271600	ZNF genes & repeats	Primary T cells from cord blood	blood
17	chr7:150269000-150271400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:150269600-150271200	Strong transcription	HUVEC	blood vessel
19	chr7:150269800-150278200	Weak transcription	Colonic Mucosa	Colon
20	chr7:150269800-150282400	Weak transcription	Right Ventricle	heart
21	chr7:150270200-150272200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr7:150270200-150277600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr7:150270200-150281800	Weak transcription	Spleen	Spleen
24	chr7:150270400-150272800	Weak transcription	Placenta	Placenta
25	chr7:150270400-150275000	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr7:150270400-150276600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr7:150271000-150271200	ZNF genes & repeats	Brain Hippocampus Middle	brain

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