Variant report

Variant	rs2919432
Chromosome Location	chr16:30685089-30685090
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:30684210..30685861-chr16:30688488..30690548,2	K562	blood:
2	chr16:30678548..30685862-chr16:30707986..30712280,7	K562	blood:
3	chr16:30670913..30673780-chr16:30684113..30687198,4	MCF-7	breast:
4	chr16:30683895..30686702-chr16:30687141..30689708,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156860	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000080603	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10782000	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs11150594	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11150595	0.94[YRI][hapmap]
rs11648654	1.00[AMR][1000 genomes]
rs12596375	1.00[AMR][1000 genomes]
rs12596394	1.00[AMR][1000 genomes]
rs12598056	1.00[AMR][1000 genomes]
rs12931844	1.00[AMR][1000 genomes]
rs12933849	1.00[AMR][1000 genomes]
rs1348039	1.00[MKK][hapmap]
rs1530201	1.00[MKK][hapmap]
rs1550477	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs2053426	1.00[AMR][1000 genomes]
rs2099754	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs2099755	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs2919430	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2919431	0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2919433	1.00[AMR][1000 genomes]
rs2972804	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2972807	0.84[AFR][1000 genomes]
rs2972808	0.84[ASW][hapmap];0.81[LWK][hapmap];1.00[MKK][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes]
rs2972809	0.82[ASW][hapmap];0.81[LWK][hapmap];1.00[MKK][hapmap];0.87[YRI][hapmap];0.93[AFR][1000 genomes]
rs2972815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4617878	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889488	1.00[AMR][1000 genomes]
rs4889494	1.00[AMR][1000 genomes]
rs4889500	1.00[LWK][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889501	1.00[AMR][1000 genomes]
rs4889502	1.00[MKK][hapmap]
rs4889503	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889504	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889505	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889506	1.00[MKK][hapmap]
rs4889508	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889509	0.94[YRI][hapmap]
rs4889510	1.00[AMR][1000 genomes]
rs4889528	1.00[AMR][1000 genomes]
rs55635617	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56038936	1.00[AMR][1000 genomes]
rs56209507	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57225118	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57643871	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57877247	1.00[AMR][1000 genomes]
rs6565203	1.00[AMR][1000 genomes]
rs6565204	1.00[AMR][1000 genomes]
rs6565205	1.00[AMR][1000 genomes]
rs6565208	1.00[AMR][1000 genomes]
rs6565209	1.00[AMR][1000 genomes]
rs6565210	1.00[AMR][1000 genomes]
rs7185136	1.00[LWK][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7188077	1.00[AMR][1000 genomes]
rs7188927	1.00[MKK][hapmap]
rs7193412	1.00[AMR][1000 genomes]
rs7194763	1.00[AMR][1000 genomes]
rs7195583	1.00[LWK][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs7195612	0.84[ASW][hapmap];1.00[AMR][1000 genomes]
rs73524581	1.00[AMR][1000 genomes]
rs73524584	1.00[AMR][1000 genomes]
rs73536457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73536466	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73536474	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73536488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73536498	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73536499	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8045484	0.93[YRI][hapmap]
rs8045550	1.00[AMR][1000 genomes]
rs8045624	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs8046609	1.00[AMR][1000 genomes]
rs8047743	1.00[AMR][1000 genomes]
rs8048656	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8049589	1.00[AMR][1000 genomes]
rs8050578	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8058475	1.00[AMR][1000 genomes]
rs893924	1.00[MKK][hapmap]
rs893925	1.00[MKK][hapmap]
rs893926	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs893927	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs9921630	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs9934046	1.00[AMR][1000 genomes]
rs9941201	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs9941300	1.00[LWK][hapmap];0.94[YRI][hapmap];1.00[AMR][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	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905727	chr16:30564526-30689696	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv469724	chr16:30632445-30840263	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv482704	chr16:30632445-30840263	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
6	nsv833188	chr16:30632446-30840263	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
7	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
8	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	171 gene(s)	inside rSNPs	diseases
9	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
10	nsv905731	chr16:30667031-30685089	Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
11	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
12	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30679600-30686600	Weak transcription	K562	blood
2	chr16:30679800-30686600	Weak transcription	Hela-S3	cervix
3	chr16:30681400-30689200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:30681400-30689600	Weak transcription	Brain Angular Gyrus	brain
5	chr16:30681800-30688000	Weak transcription	HepG2	liver
6	chr16:30682000-30686600	Weak transcription	A549	lung
7	chr16:30682000-30689400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr16:30682000-30689600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr16:30682200-30689000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr16:30682400-30685600	Weak transcription	Spleen	Spleen
11	chr16:30682400-30688800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr16:30682400-30689200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr16:30682400-30689200	Weak transcription	Brain Anterior Caudate	brain
14	chr16:30682400-30689200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr16:30682400-30689200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr16:30682400-30690000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr16:30682600-30685200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr16:30682600-30685200	Weak transcription	Fetal Brain Female	brain
19	chr16:30682600-30685400	Weak transcription	Primary T cells from cord blood	blood
20	chr16:30682600-30685800	Weak transcription	Fetal Stomach	stomach
21	chr16:30682600-30688800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:30682600-30688800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr16:30682600-30689200	Weak transcription	Brain Substantia Nigra	brain
24	chr16:30682600-30689200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr16:30682600-30689400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr16:30682600-30689800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr16:30682600-30689800	Weak transcription	Brain Hippocampus Middle	brain
28	chr16:30682600-30705200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr16:30682800-30685400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr16:30683200-30689200	Weak transcription	Fetal Intestine Small	intestine
31	chr16:30683400-30685200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr16:30683600-30685200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr16:30683600-30685200	Weak transcription	Thymus	Thymus
34	chr16:30683800-30685400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr16:30683800-30685400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr16:30683800-30690000	Weak transcription	Placenta	Placenta

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