Variant report

Variant	rs3807383
Chromosome Location	chr7:150434158-150434159
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:150434050-150436345	GM12892	blood:	n/a	n/a
2	POLR2A	chr7:150434081-150436563	GM12892	blood:	n/a	n/a
3	POLR2A	chr7:150433739-150436135	GM12891	blood:	n/a	n/a
4	POLR2A	chr7:150433977-150436489	GM12892	blood:	n/a	n/a
5	POLR2A	chr7:150434082-150436015	GM18505	blood:	n/a	n/a
6	MTA3	chr7:150433963-150436163	GM12878	blood:	n/a	n/a
7	SPI1	chr7:150434131-150434801	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150433868..150435484-chr7:150436619..150439022,2	MCF-7	breast:

Variant related genes	Relation type
GIMAP5	TF binding region
ENSG00000196329	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10952286	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2058448	0.94[CEU][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2058449	1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4725359	0.90[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs59953726	0.92[ASN][1000 genomes]
rs6952662	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6955828	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6960420	0.92[ASN][1000 genomes]
rs6972456	0.94[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9657876	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9657901	0.82[ASN][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
rs3807383	TMEM176A	cis	cerebellum	SCAN
rs3807383	GIMAP6	Cis_1M	lymphoblastoid	RTeQTL
rs3807383	GIMAP5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150431400-150434400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr7:150431800-150434400	Enhancers	Fetal Thymus	thymus
3	chr7:150432600-150434200	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr7:150432600-150434200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:150432600-150434200	Enhancers	Thymus	Thymus
6	chr7:150432600-150435000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:150432800-150434200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
8	chr7:150433000-150434800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr7:150433200-150434200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:150433200-150434200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr7:150433200-150434200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:150433200-150434400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr7:150433400-150434200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr7:150433400-150434400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr7:150433600-150434200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr7:150433600-150434400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr7:150433600-150434400	Enhancers	Colon Smooth Muscle	Colon
18	chr7:150433600-150434800	Weak transcription	Small Intestine	intestine
19	chr7:150433800-150434200	Enhancers	Primary hematopoietic stem cells	blood
20	chr7:150433800-150434200	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr7:150433800-150434200	Enhancers	Fetal Stomach	stomach
22	chr7:150433800-150434200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr7:150433800-150434400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr7:150433800-150434400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:150433800-150434600	Flanking Active TSS	Dnd41	blood
26	chr7:150433800-150435400	Active TSS	Liver	Liver
27	chr7:150433800-150436800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:150433800-150439200	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr7:150434000-150434200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
30	chr7:150434000-150434200	Bivalent Enhancer	Fetal Lung	lung
31	chr7:150434000-150434200	Enhancers	Fetal Muscle Trunk	muscle
32	chr7:150434000-150434200	Bivalent Enhancer	Placenta	Placenta
33	chr7:150434000-150434200	Flanking Active TSS	Left Ventricle	heart
34	chr7:150434000-150434200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr7:150434000-150434400	Enhancers	Primary B cells from cord blood	blood
36	chr7:150434000-150434400	Enhancers	Primary B cells from peripheral blood	blood
37	chr7:150434000-150434400	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr7:150434000-150434400	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr7:150434000-150434400	Flanking Active TSS	GM12878-XiMat	blood
40	chr7:150434000-150434600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr7:150434000-150434800	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr7:150434000-150435200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
43	chr7:150434000-150435800	Active TSS	Gastric	stomach
44	chr7:150434000-150435800	Active TSS	Spleen	Spleen
45	chr7:150434000-150436200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:150434000-150436800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:150434000-150436800	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr7:150434000-150437000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:150434000-150437200	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr7:150434000-150437400	Active TSS	Brain Anterior Caudate	brain

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