Variant report

Variant	rs1016193
Chromosome Location	chr7:150412100-150412101
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	chr7:150411749..150416479-chr7:150417256..150421069,5	K562	blood:

Variant related genes	Relation type
ENSG00000196329	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10234910	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10243000	0.86[EUR][1000 genomes]
rs10243355	0.85[EUR][1000 genomes]
rs10268452	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10275039	0.86[EUR][1000 genomes]
rs10275417	0.85[EUR][1000 genomes]
rs10278670	0.84[EUR][1000 genomes]
rs2049248	0.84[EUR][1000 genomes]
rs2241021	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2373845	0.86[EUR][1000 genomes]
rs2373846	0.86[EUR][1000 genomes]
rs2373847	0.86[EUR][1000 genomes]
rs4629771	0.85[EUR][1000 genomes]
rs58568453	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6944136	0.86[EUR][1000 genomes]
rs6952002	0.85[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs73163557	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7357320	0.84[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	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
8	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv831187	chr7:150325913-150503500	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1016193	TMEM176B	cis	cerebellum	SCAN
rs1016193	GIMAP4	cis	parietal	SCAN
rs1016193	GIMAP5	cis	lymphoblastoid	seeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150411200-150412200	Enhancers	Primary T cells fromperipheralblood	blood
2	chr7:150411600-150412200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr7:150411600-150412200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr7:150411600-150412800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:150411600-150413600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
6	chr7:150411600-150413600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr7:150411800-150413000	Enhancers	Duodenum Mucosa	Duodenum
8	chr7:150411800-150413400	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr7:150411800-150413400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:150411800-150413400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr7:150411800-150413600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr7:150412000-150412800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr7:150412000-150413000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr7:150412000-150413000	Enhancers	Adipose Nuclei	Adipose
15	chr7:150412000-150413400	Enhancers	Spleen	Spleen
16	chr7:150412000-150413600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:150412000-150413600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr7:150412000-150413600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr7:150412000-150413600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr7:150412000-150413600	Enhancers	Fetal Thymus	thymus

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