Variant report

Variant	rs17173566
Chromosome Location	chr7:150388006-150388007
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150380547..150382670-chr7:150386657..150389613,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10241142	0.86[EUR][1000 genomes]
rs10245231	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10250584	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10260218	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10265803	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1234353	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1234354	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.89[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1234358	0.91[CEU][hapmap];0.90[CHB][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1234359	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1234362	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1234363	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12703092	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2049247	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2049249	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2140144	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2373844	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3936752	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6946579	0.82[TSI][hapmap]
rs6962505	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6965369	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6976084	0.83[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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs17173566	DPP6	cis	parietal	SCAN
rs17173566	LR8	cis	multi-tissue	Pritchard
rs17173566	GIMAP4	Cis_1M	lymphoblastoid	RTeQTL
rs17173566	GIMAP8	Cis_1M	lymphoblastoid	RTeQTL
rs17173566	GIMAP4	cis	multi-tissue	Pritchard
rs17173566	MAFF	trans	multi-tissue	Pritchard
rs17173566	HCA112	cis	multi-tissue	Pritchard

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150383400-150388400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:150383600-150389400	Weak transcription	Fetal Stomach	stomach
3	chr7:150383600-150389600	Weak transcription	Fetal Muscle Leg	muscle
4	chr7:150383600-150390800	Weak transcription	Small Intestine	intestine
5	chr7:150383600-150391000	Weak transcription	Gastric	stomach
6	chr7:150383600-150391400	Weak transcription	Brain Substantia Nigra	brain
7	chr7:150383800-150392200	Weak transcription	Right Atrium	heart
8	chr7:150383800-150392200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr7:150384200-150390600	ZNF genes & repeats	GM12878-XiMat	blood
10	chr7:150384600-150388800	Genic enhancers	Spleen	Spleen
11	chr7:150384800-150388200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
12	chr7:150385000-150391600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr7:150385200-150388400	Strong transcription	Primary B cells from peripheral blood	blood
14	chr7:150385200-150390400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr7:150385200-150390400	Weak transcription	HUVEC	blood vessel
16	chr7:150385600-150388600	Strong transcription	Ovary	ovary
17	chr7:150385600-150390000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:150385600-150390000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr7:150385800-150390600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:150385800-150391200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr7:150385800-150392200	Weak transcription	Brain Hippocampus Middle	brain
22	chr7:150386000-150389400	Weak transcription	Esophagus	oesophagus
23	chr7:150386000-150390200	Strong transcription	Liver	Liver
24	chr7:150386200-150388200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
25	chr7:150386200-150391200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:150386600-150388600	Strong transcription	Duodenum Mucosa	Duodenum
27	chr7:150386600-150389800	Strong transcription	Thymus	Thymus
28	chr7:150386600-150391200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
29	chr7:150386800-150388200	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr7:150386800-150388200	Strong transcription	Fetal Thymus	thymus
31	chr7:150387000-150388400	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr7:150387000-150393200	ZNF genes & repeats	Primary T cells from cord blood	blood
33	chr7:150387200-150388200	Strong transcription	Fetal Lung	lung
34	chr7:150387200-150388200	Strong transcription	Left Ventricle	heart
35	chr7:150387200-150388400	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr7:150387200-150388400	Strong transcription	Stomach Smooth Muscle	stomach
37	chr7:150387200-150388600	Strong transcription	Colonic Mucosa	Colon
38	chr7:150387200-150388600	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr7:150387200-150388600	Strong transcription	Placenta	Placenta
40	chr7:150387200-150389800	Strong transcription	Adipose Nuclei	Adipose
41	chr7:150387200-150390000	ZNF genes & repeats	Lung	lung
42	chr7:150387200-150390200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
43	chr7:150387200-150390200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:150387200-150391200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
45	chr7:150387200-150393600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
46	chr7:150387400-150388600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
47	chr7:150387600-150388200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:150387600-150388200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr7:150387600-150388200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
50	chr7:150387600-150390600	Genic enhancers	Dnd41	blood

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