Variant report

Variant	rs7190713
Chromosome Location	chr16:46719856-46719857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:46718438..46720564-chr16:46723434..46725231,2	K562	blood:
2	chr16:46690502..46692806-chr16:46719055..46720847,2	MCF-7	breast:
3	chr16:46719470..46721064-chr16:46737912..46740527,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261788	Chromatin interaction
ENSG00000091651	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10468399	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1651654	1.00[ASN][1000 genomes]
rs166161	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16948661	1.00[ASN][1000 genomes]
rs17189741	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17792604	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs183672	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341041	1.00[ASN][1000 genomes]
rs252721	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs252722	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28174	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28184	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28485103	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35444809	1.00[ASN][1000 genomes]
rs36310	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36312	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36462	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36464	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36471	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36472	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs36476	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36481	1.00[ASN][1000 genomes]
rs36483	1.00[ASN][1000 genomes]
rs40163	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40355	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41187	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4141491	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs415018	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs420865	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs42461	0.81[EUR][1000 genomes]
rs4401068	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4887592	1.00[ASN][1000 genomes]
rs4966606	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4966616	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4967393	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59064826	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60500837	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66508669	1.00[ASN][1000 genomes]
rs66804065	1.00[ASN][1000 genomes]
rs67205347	1.00[ASN][1000 genomes]
rs67506574	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67611436	1.00[ASN][1000 genomes]
rs67789219	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68074363	1.00[ASN][1000 genomes]
rs698416	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs698418	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs700582	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712816	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7186662	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7187475	1.00[ASN][1000 genomes]
rs7197033	1.00[ASN][1000 genomes]
rs7198951	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7205668	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814883	1.00[ASN][1000 genomes]
rs72816835	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816877	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794279	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8044684	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8045353	1.00[ASN][1000 genomes]
rs8046748	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8051017	1.00[ASN][1000 genomes]
rs808434	1.00[ASN][1000 genomes]
rs808780	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808783	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1799780	chr16:46386457-46875496	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1060734	chr16:46463770-46768102	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active 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	38 gene(s)	inside rSNPs	diseases
3	nsv1064289	chr16:46463770-46801977	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
5	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
6	esv1797185	chr16:46489836-46731413	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv1066048	chr16:46500740-46998694	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	nsv542908	chr16:46500740-46998694	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	nsv1059147	chr16:46500740-47010960	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
10	nsv542909	chr16:46500740-47010960	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
11	nsv916976	chr16:46505597-46801868	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
12	nsv526656	chr16:46539392-46846663	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv572536	chr16:46694649-46727385	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	esv1799771	chr16:46705343-46731413	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
15	esv1792701	chr16:46709686-46751452	Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7190713	LOC388272	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46702600-46722200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:46705000-46720000	Weak transcription	Fetal Brain Male	brain
3	chr16:46705000-46720600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:46705000-46720600	Weak transcription	Brain Substantia Nigra	brain
5	chr16:46705000-46721600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr16:46705600-46721400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr16:46705800-46720600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr16:46705800-46721400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr16:46705800-46721400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr16:46705800-46722200	Weak transcription	Aorta	Aorta
11	chr16:46709000-46721200	Weak transcription	Thymus	Thymus
12	chr16:46710000-46721400	Weak transcription	Gastric	stomach
13	chr16:46712600-46720600	Weak transcription	Psoas Muscle	Psoas
14	chr16:46712800-46720600	Weak transcription	Right Ventricle	heart
15	chr16:46713000-46721000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr16:46713200-46720800	Weak transcription	Fetal Kidney	kidney
17	chr16:46713400-46720400	Weak transcription	Brain Germinal Matrix	brain
18	chr16:46713400-46720400	Weak transcription	Brain Hippocampus Middle	brain
19	chr16:46713400-46720400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr16:46713400-46720600	Weak transcription	Brain Anterior Caudate	brain
21	chr16:46713400-46720600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr16:46713400-46721400	Weak transcription	Lung	lung
23	chr16:46713600-46720400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr16:46713600-46720400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr16:46713600-46720600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr16:46713600-46720600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr16:46713600-46720600	Weak transcription	Brain Angular Gyrus	brain
28	chr16:46713600-46720600	Weak transcription	Colonic Mucosa	Colon
29	chr16:46713600-46720600	Weak transcription	Fetal Stomach	stomach
30	chr16:46713600-46720600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr16:46713600-46720600	Weak transcription	HSMMtube	muscle
32	chr16:46713600-46720600	Weak transcription	NHEK	skin
33	chr16:46713600-46720600	Weak transcription	Osteobl	bone
34	chr16:46713600-46720800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr16:46713600-46721200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr16:46713600-46721200	Weak transcription	Ovary	ovary
37	chr16:46713600-46721400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr16:46713600-46721400	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr16:46713600-46721400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr16:46713600-46721400	Weak transcription	Esophagus	oesophagus
41	chr16:46713600-46721400	Weak transcription	Fetal Muscle Leg	muscle
42	chr16:46713600-46721400	Weak transcription	Fetal Thymus	thymus
43	chr16:46713600-46721400	Weak transcription	Spleen	Spleen
44	chr16:46713600-46721600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr16:46713800-46720600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr16:46713800-46720600	Weak transcription	K562	blood
47	chr16:46713800-46720600	Weak transcription	NHLF	lung
48	chr16:46714600-46720600	Weak transcription	HUVEC	blood vessel
49	chr16:46714600-46721400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr16:46714600-46721400	Weak transcription	Placenta	Placenta

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