Variant report

Variant	rs73308167
Chromosome Location	chr7:17888216-17888217
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10085581	0.89[AFR][1000 genomes]
rs10228026	1.00[AMR][1000 genomes]
rs10228344	1.00[AMR][1000 genomes]
rs10229223	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10229298	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10230274	1.00[AMR][1000 genomes]
rs10230644	1.00[AMR][1000 genomes]
rs10231226	1.00[AMR][1000 genomes]
rs10231951	1.00[AMR][1000 genomes]
rs10232014	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10232030	1.00[AMR][1000 genomes]
rs10234457	1.00[AMR][1000 genomes]
rs10234658	0.89[AFR][1000 genomes]
rs10237285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10238514	1.00[AMR][1000 genomes]
rs10242619	1.00[AMR][1000 genomes]
rs10242951	1.00[AMR][1000 genomes]
rs10244018	1.00[AMR][1000 genomes]
rs10252592	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10268362	1.00[AMR][1000 genomes]
rs10270181	1.00[AMR][1000 genomes]
rs10270757	1.00[AMR][1000 genomes]
rs10274155	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10274669	1.00[AMR][1000 genomes]
rs10274868	1.00[AMR][1000 genomes]
rs10278523	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10280913	1.00[AMR][1000 genomes]
rs10282571	1.00[AMR][1000 genomes]
rs11975603	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11977866	0.89[AFR][1000 genomes]
rs11978117	1.00[AMR][1000 genomes]
rs17138308	1.00[AMR][1000 genomes]
rs17138311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17138437	1.00[AMR][1000 genomes]
rs17138450	1.00[AMR][1000 genomes]
rs1880456	0.84[AFR][1000 genomes]
rs28476778	1.00[AMR][1000 genomes]
rs28524132	0.89[AFR][1000 genomes]
rs28566938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28663676	1.00[AMR][1000 genomes]
rs28862893	1.00[AMR][1000 genomes]
rs59568611	1.00[AMR][1000 genomes]
rs60138005	1.00[AMR][1000 genomes]
rs73308173	1.00[AMR][1000 genomes]
rs73308184	1.00[AMR][1000 genomes]
rs73310107	1.00[AMR][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]

Variant overlapped rSNPs/rCNVs (count:11 , 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

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17834800-17888800	Weak transcription	Brain Substantia Nigra	brain
2	chr7:17839000-17932600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr7:17841200-17902600	Weak transcription	Brain Anterior Caudate	brain
4	chr7:17846000-17900600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:17852600-17896000	Weak transcription	Fetal Kidney	kidney
6	chr7:17852600-17902800	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:17852800-17890200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:17852800-17895000	Weak transcription	Brain Germinal Matrix	brain
9	chr7:17853800-17914000	Weak transcription	Hela-S3	cervix
10	chr7:17854000-17900800	Weak transcription	K562	blood
11	chr7:17862800-17894800	Weak transcription	Psoas Muscle	Psoas
12	chr7:17872600-17889400	Weak transcription	Fetal Brain Male	brain
13	chr7:17876200-17901000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr7:17877600-17902600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:17877800-17917400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr7:17878000-17896000	Weak transcription	Brain Angular Gyrus	brain
17	chr7:17878200-17918400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:17879400-17896000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:17879400-17896000	Weak transcription	Placenta	Placenta
20	chr7:17879600-17888400	Weak transcription	NH-A	brain
21	chr7:17879800-17889000	Weak transcription	Osteobl	bone
22	chr7:17879800-17911000	Weak transcription	HepG2	liver
23	chr7:17881000-17889200	Weak transcription	HSMMtube	muscle
24	chr7:17881000-17892400	Weak transcription	Fetal Lung	lung
25	chr7:17881000-17897000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr7:17881000-17899000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr7:17881000-17899600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr7:17881000-17901200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr7:17881000-17903400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr7:17881200-17888400	Weak transcription	Fetal Heart	heart
31	chr7:17881200-17895600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:17881400-17903000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr7:17882000-17895200	Weak transcription	A549	lung
34	chr7:17882200-17896400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr7:17883400-17889400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:17883800-17894200	Weak transcription	GM12878-XiMat	blood
37	chr7:17884000-17896000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:17884200-17891800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr7:17884600-17890400	Strong transcription	Liver	Liver
40	chr7:17884600-17907400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:17884800-17889400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr7:17884800-17889400	Weak transcription	NHDF-Ad	bronchial
43	chr7:17885000-17889200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:17885000-17889400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr7:17885000-17895600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr7:17885000-17895800	Weak transcription	NHEK	skin
47	chr7:17885000-17928800	Weak transcription	HUVEC	blood vessel
48	chr7:17885200-17933800	Weak transcription	HMEC	breast
49	chr7:17886000-17888400	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr7:17886000-17888600	Strong transcription	Adipose Nuclei	Adipose

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