Variant report

Variant	rs10230274
Chromosome Location	chr7:17908426-17908427
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10226396	0.93[YRI][hapmap]
rs10228026	1.00[AMR][1000 genomes]
rs10228344	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs10229223	1.00[AMR][1000 genomes]
rs10229298	1.00[AMR][1000 genomes]
rs10230644	1.00[AMR][1000 genomes]
rs10231226	1.00[AMR][1000 genomes]
rs10231951	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10232014	1.00[AMR][1000 genomes]
rs10232030	1.00[AMR][1000 genomes]
rs10234457	1.00[AMR][1000 genomes]
rs10237285	1.00[AMR][1000 genomes]
rs10238514	0.91[LWK][hapmap];0.81[MKK][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10242619	1.00[AMR][1000 genomes]
rs10242951	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs10244018	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10252592	1.00[AMR][1000 genomes]
rs10255868	0.82[AFR][1000 genomes]
rs10268362	1.00[AMR][1000 genomes]
rs10269984	0.83[AFR][1000 genomes]
rs10270181	1.00[AMR][1000 genomes]
rs10270757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10274155	1.00[AMR][1000 genomes]
rs10274669	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10274868	1.00[AMR][1000 genomes]
rs10278523	1.00[AMR][1000 genomes]
rs10280913	1.00[AMR][1000 genomes]
rs10282571	1.00[AMR][1000 genomes]
rs11975603	1.00[AMR][1000 genomes]
rs11976744	0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs11978117	1.00[AMR][1000 genomes]
rs17138308	1.00[LWK][hapmap];1.00[MKK][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17138311	1.00[AMR][1000 genomes]
rs17138437	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17138450	1.00[AMR][1000 genomes]
rs28476778	1.00[AMR][1000 genomes]
rs28566938	1.00[AMR][1000 genomes]
rs28663676	1.00[AMR][1000 genomes]
rs28862893	1.00[AMR][1000 genomes]
rs59568611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60138005	1.00[AMR][1000 genomes]
rs73308132	0.80[AFR][1000 genomes]
rs73308167	1.00[AMR][1000 genomes]
rs73308173	1.00[AMR][1000 genomes]
rs73308184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310107	1.00[AMR][1000 genomes]
rs73310108	0.80[AFR][1000 genomes]
rs73310176	1.00[AMR][1000 genomes]
rs73310185	1.00[AMR][1000 genomes]
rs73310190	1.00[AMR][1000 genomes]
rs73312112	1.00[AMR][1000 genomes]
rs73680509	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869352	chr7:17237983-17932878	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS 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 target site	23 gene(s)	inside rSNPs	diseases
2	nsv1021524	chr7:17251148-17963307	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv534309	chr7:17254118-17932878	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv533938	chr7:17254118-18040301	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
6	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	esv1802979	chr7:17816528-17908546	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv830913	chr7:17848480-18034218	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	esv1792752	chr7:17853983-17908546	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1026629	chr7:17862477-18362404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
11	nsv1025023	chr7:17865796-18357630	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1030201	chr7:17898410-18491985	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10230274	DBN1	trans	lymphoblastoid	seeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17839000-17932600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr7:17853800-17914000	Weak transcription	Hela-S3	cervix
3	chr7:17877800-17917400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:17878200-17918400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:17879800-17911000	Weak transcription	HepG2	liver
6	chr7:17885000-17928800	Weak transcription	HUVEC	blood vessel
7	chr7:17885200-17933800	Weak transcription	HMEC	breast
8	chr7:17888400-17934800	Weak transcription	Colonic Mucosa	Colon
9	chr7:17888600-17921600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:17889600-17911000	Weak transcription	HSMMtube	muscle
11	chr7:17891800-17922400	Weak transcription	NH-A	brain
12	chr7:17895000-17933600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:17896400-17918000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:17898800-17916000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr7:17899400-17911200	Weak transcription	GM12878-XiMat	blood
16	chr7:17899400-17915000	Strong transcription	Liver	Liver
17	chr7:17899800-17915600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr7:17900400-17909400	Strong transcription	Primary B cells from peripheral blood	blood
19	chr7:17900400-17956600	Weak transcription	A549	lung
20	chr7:17901000-17909400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:17901400-17946200	Weak transcription	NHLF	lung
22	chr7:17901600-17911000	Weak transcription	Left Ventricle	heart
23	chr7:17901600-17918400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr7:17901600-17939800	Weak transcription	Pancreas	Pancrea
25	chr7:17902200-17908600	Strong transcription	Primary B cells from cord blood	blood
26	chr7:17902400-17915400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:17903400-17911400	Weak transcription	Right Ventricle	heart
28	chr7:17903400-17914400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:17903400-17916200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr7:17903400-17925000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:17903400-17930000	Weak transcription	Gastric	stomach
32	chr7:17903400-17942400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:17903600-17909800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr7:17903600-17911000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr7:17903600-17911200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:17903600-17911400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr7:17903600-17911400	Weak transcription	K562	blood
38	chr7:17903600-17925800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:17903600-17945400	Weak transcription	Aorta	Aorta
40	chr7:17903600-17953000	Weak transcription	Thymus	Thymus
41	chr7:17903800-17916200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:17903800-17922400	Weak transcription	Fetal Heart	heart
43	chr7:17903800-17949000	Weak transcription	NHEK	skin
44	chr7:17904000-17915400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:17904000-17916000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr7:17904600-17910800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr7:17904600-17910800	Weak transcription	Fetal Thymus	thymus
48	chr7:17904600-17918000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr7:17904600-17920000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr7:17904800-17911000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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