Variant report

Variant	rs13238412
Chromosome Location	chr7:150319324-150319325
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150318567..150320599-chr7:150322127..150323984,2	K562	blood:

Extended variants
information (count: 138 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs10254829	0.80[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap]
rs11761189	0.80[ASN][1000 genomes]
rs11764032	0.86[ASN][1000 genomes]
rs11764049	0.80[ASN][1000 genomes]
rs11764483	0.91[ASN][1000 genomes]
rs11767598	0.85[ASN][1000 genomes]
rs11769703	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11769828	0.89[ASN][1000 genomes]
rs11771827	0.89[ASN][1000 genomes]
rs11981976	0.80[EUR][1000 genomes]
rs11982037	0.80[EUR][1000 genomes]
rs12154435	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12154436	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12154687	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1234357	0.93[CHB][hapmap];0.90[JPT][hapmap]
rs12397707	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12532045	0.86[ASN][1000 genomes]
rs12532846	0.85[ASN][1000 genomes]
rs12533735	0.89[ASN][1000 genomes]
rs12535208	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12535647	0.89[ASN][1000 genomes]
rs12537789	0.95[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12540251	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12540286	0.83[EUR][1000 genomes]
rs12666582	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12673197	0.81[ASN][1000 genomes]
rs12703091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1316352	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13220967	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13221085	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13223299	0.80[ASN][1000 genomes]
rs13223607	0.91[ASN][1000 genomes]
rs13223653	0.91[ASN][1000 genomes]
rs13225097	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13225393	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13225610	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13225905	0.86[ASN][1000 genomes]
rs13226190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13230583	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13234724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13235707	0.89[ASN][1000 genomes]
rs13236678	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13240099	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13240106	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1403220	0.86[ASN][1000 genomes]
rs1578916	0.91[ASN][1000 genomes]
rs1608158	0.89[ASN][1000 genomes]
rs17542143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17837503	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2204131	0.91[ASN][1000 genomes]
rs34030180	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34079857	0.91[ASN][1000 genomes]
rs34097488	0.91[ASN][1000 genomes]
rs34176120	0.91[ASN][1000 genomes]
rs34208822	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34396063	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34585329	0.86[ASN][1000 genomes]
rs34815266	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34822032	0.89[ASN][1000 genomes]
rs34912132	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34940374	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35114152	0.91[ASN][1000 genomes]
rs35182796	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35233281	0.91[ASN][1000 genomes]
rs35276692	0.91[ASN][1000 genomes]
rs35283918	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs35285840	0.86[ASN][1000 genomes]
rs35329030	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35342751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35432864	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35464700	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35492812	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35659213	0.91[ASN][1000 genomes]
rs35731211	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35760614	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs35873531	0.91[ASN][1000 genomes]
rs36020504	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs36065681	0.86[ASN][1000 genomes]
rs36200127	0.90[ASN][1000 genomes]
rs3735080	0.84[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap]
rs3735086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3807382	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4367453	0.80[ASN][1000 genomes]
rs4543461	0.91[ASN][1000 genomes]
rs4573169	0.91[ASN][1000 genomes]
rs55681398	0.93[ASN][1000 genomes]
rs56138121	0.86[ASN][1000 genomes]
rs56279394	0.86[ASN][1000 genomes]
rs56325059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56412316	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs57729315	0.91[ASN][1000 genomes]
rs57899656	0.91[ASN][1000 genomes]
rs59468128	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs60213500	0.80[ASN][1000 genomes]
rs62490361	0.86[ASN][1000 genomes]
rs62490366	0.86[ASN][1000 genomes]
rs62491810	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62491812	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62491814	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62491829	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62502277	0.91[ASN][1000 genomes]
rs62502293	0.91[ASN][1000 genomes]
rs62502294	0.91[ASN][1000 genomes]
rs62502349	0.86[ASN][1000 genomes]
rs62503201	0.90[ASN][1000 genomes]
rs62504165	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6942848	0.80[ASN][1000 genomes]
rs6951360	0.91[ASN][1000 genomes]
rs6954076	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6971133	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6971221	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6971529	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6978270	0.88[ASN][1000 genomes]
rs6978778	0.91[ASN][1000 genomes]
rs71539836	0.90[ASN][1000 genomes]
rs73161782	0.88[ASN][1000 genomes]
rs73474862	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7455366	0.89[ASN][1000 genomes]
rs7781992	0.80[ASN][1000 genomes]
rs7784050	0.81[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap]
rs7784108	0.80[CEU][hapmap]
rs7788112	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7788300	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7788683	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7788885	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7808446	0.81[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap]
rs954395	0.86[ASN][1000 genomes]
rs9768447	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9770112	0.82[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	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
4	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
5	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
6	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
7	esv3388935	chr7:150301204-150374532	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	esv2762711	chr7:150318801-150323647	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13238412	GIMAP4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150312400-150321800	Weak transcription	Dnd41	blood
2	chr7:150312800-150323000	Weak transcription	Fetal Thymus	thymus
3	chr7:150315000-150322200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr7:150316800-150320400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:150316800-150320400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr7:150317000-150319400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr7:150317000-150319800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:150317000-150321000	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr7:150317600-150320400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr7:150318000-150320600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr7:150318000-150322400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr7:150318000-150323000	Weak transcription	HUVEC	blood vessel
13	chr7:150318400-150323200	Weak transcription	Spleen	Spleen
14	chr7:150318800-150320200	Weak transcription	Primary T cells from cord blood	blood
15	chr7:150318800-150320200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:150318800-150320800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr7:150318800-150320800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:150318800-150321600	Weak transcription	Left Ventricle	heart
19	chr7:150318800-150322200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr7:150318800-150323000	Weak transcription	Adipose Nuclei	Adipose
21	chr7:150318800-150323200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:150319000-150321000	Enhancers	GM12878-XiMat	blood
23	chr7:150319000-150323000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr7:150319200-150321800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:150319200-150323800	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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