Variant report

Variant	rs7225649
Chromosome Location	chr17:16178778-16178779
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:16171013..16172613-chr17:16176178..16178945,3	K562	blood:
2	chr17:16175952..16178833-chr17:16340980..16343574,2	K562	blood:
3	chr17:16175415..16178833-chr17:16340980..16343676,3	K562	blood:

Variant related genes	Relation type
ENSG00000175061	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1006958	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs57100283	1.00[EUR][1000 genomes]
rs57540884	1.00[EUR][1000 genomes]
rs57939654	1.00[EUR][1000 genomes]
rs57958152	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58069228	1.00[EUR][1000 genomes]
rs58203269	1.00[EUR][1000 genomes]
rs58213352	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58937503	1.00[EUR][1000 genomes]
rs59191673	1.00[EUR][1000 genomes]
rs59414015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59837344	1.00[EUR][1000 genomes]
rs60277322	1.00[EUR][1000 genomes]
rs60436356	1.00[EUR][1000 genomes]
rs61360753	1.00[EUR][1000 genomes]
rs61479315	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61529373	1.00[EUR][1000 genomes]
rs7211819	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7212903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7217230	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7219038	1.00[EUR][1000 genomes]
rs73281934	1.00[EUR][1000 genomes]
rs73281961	1.00[EUR][1000 genomes]
rs73281967	1.00[EUR][1000 genomes]
rs73281977	1.00[EUR][1000 genomes]
rs73281979	1.00[EUR][1000 genomes]
rs73281980	1.00[EUR][1000 genomes]
rs73281981	1.00[EUR][1000 genomes]
rs73287023	1.00[EUR][1000 genomes]
rs73287032	1.00[EUR][1000 genomes]
rs73287067	1.00[EUR][1000 genomes]
rs73287076	1.00[EUR][1000 genomes]
rs73287082	1.00[EUR][1000 genomes]
rs73287088	1.00[EUR][1000 genomes]
rs73287090	1.00[EUR][1000 genomes]
rs73287414	1.00[EUR][1000 genomes]
rs73287419	1.00[EUR][1000 genomes]
rs73287423	1.00[EUR][1000 genomes]
rs73287425	1.00[EUR][1000 genomes]
rs73287426	1.00[EUR][1000 genomes]
rs73287441	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73288903	1.00[EUR][1000 genomes]
rs73288904	1.00[EUR][1000 genomes]
rs8066726	1.00[EUR][1000 genomes]
rs8067000	1.00[EUR][1000 genomes]
rs8068254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8069679	0.92[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8071289	1.00[EUR][1000 genomes]
rs8075170	1.00[EUR][1000 genomes]
rs8079037	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv907715	chr17:16019978-16206540	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
6	nsv907717	chr17:16076898-16239832	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
7	nsv528263	chr17:16097430-16196996	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
8	esv3326983	chr17:16138963-16210147	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	21 gene(s)	inside rSNPs	diseases
9	nsv907719	chr17:16161036-16185122	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7225649	ZSWIM7	cis	lymphoblastoid	seeQTL

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16157400-16185200	Weak transcription	Gastric	stomach
2	chr17:16159400-16189200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr17:16159600-16188800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr17:16159600-16189000	Weak transcription	Brain Anterior Caudate	brain
5	chr17:16160000-16183000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr17:16160400-16188400	Weak transcription	Liver	Liver
7	chr17:16163400-16189200	Weak transcription	Left Ventricle	heart
8	chr17:16163600-16189200	Weak transcription	Pancreas	Pancrea
9	chr17:16164000-16180800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr17:16164000-16182400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr17:16164000-16182400	Weak transcription	Fetal Muscle Leg	muscle
12	chr17:16164000-16185000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr17:16164000-16189000	Weak transcription	Fetal Brain Female	brain
14	chr17:16164000-16189000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr17:16164200-16182200	Weak transcription	Fetal Stomach	stomach
16	chr17:16164600-16182200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr17:16166200-16205400	Weak transcription	Brain Hippocampus Middle	brain
18	chr17:16168600-16188800	Weak transcription	Fetal Intestine Large	intestine
19	chr17:16171000-16181600	Weak transcription	HepG2	liver
20	chr17:16171400-16188200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr17:16171400-16189000	Weak transcription	Spleen	Spleen
22	chr17:16171600-16182200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr17:16171600-16188200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr17:16172000-16180400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr17:16172000-16185200	Weak transcription	Lung	lung
26	chr17:16172600-16188200	Weak transcription	GM12878-XiMat	blood
27	chr17:16173000-16187800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr17:16173000-16188200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr17:16173200-16180400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr17:16173200-16183200	Weak transcription	Primary T cells from cord blood	blood
31	chr17:16173200-16185400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr17:16173200-16186800	Weak transcription	Fetal Lung	lung
33	chr17:16173200-16187800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr17:16173200-16188000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr17:16173400-16187800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr17:16173400-16187800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr17:16173400-16188200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr17:16173600-16185200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr17:16174800-16183000	Weak transcription	Ovary	ovary
40	chr17:16175000-16189000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr17:16175400-16180000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr17:16176200-16179800	Weak transcription	Fetal Intestine Small	intestine
43	chr17:16176200-16188800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr17:16176400-16178800	Enhancers	K562	blood
45	chr17:16177200-16184200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr17:16177400-16181400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr17:16177600-16181400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr17:16177600-16181400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr17:16177600-16183800	Weak transcription	NH-A	brain
50	chr17:16177600-16183800	Weak transcription	Osteobl	bone

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