Variant report

Variant	rs2919433
Chromosome Location	chr16:30680320-30680321
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:30678548..30685862-chr16:30707986..30712280,7	K562	blood:
2	chr16:30665347..30684079-chr16:30697204..30714344,66	MCF-7	breast:
3	chr16:30678341..30683972-chr16:30708353..30711640,7	K562	blood:
4	chr16:30680192..30682358-chr16:30688409..30690704,2	MCF-7	breast:
5	chr16:30680138..30682575-chr16:30685078..30687876,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000222287	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000252074	Chromatin interaction
ENSG00000261840	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10782000	1.00[AMR][1000 genomes]
rs11150594	1.00[AMR][1000 genomes]
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]
rs1550477	1.00[AMR][1000 genomes]
rs2053426	1.00[AMR][1000 genomes]
rs2099754	1.00[AMR][1000 genomes]
rs2099755	1.00[AMR][1000 genomes]
rs2919430	1.00[AMR][1000 genomes]
rs2919431	1.00[AMR][1000 genomes]
rs2919432	1.00[AMR][1000 genomes]
rs2972804	1.00[AMR][1000 genomes]
rs2972815	1.00[AMR][1000 genomes]
rs4617878	1.00[AMR][1000 genomes]
rs4889488	1.00[AMR][1000 genomes]
rs4889494	1.00[AMR][1000 genomes]
rs4889500	1.00[AMR][1000 genomes]
rs4889501	1.00[AMR][1000 genomes]
rs4889503	1.00[AMR][1000 genomes]
rs4889504	1.00[AMR][1000 genomes]
rs4889505	1.00[AMR][1000 genomes]
rs4889508	1.00[AMR][1000 genomes]
rs4889510	1.00[AMR][1000 genomes]
rs4889528	1.00[AMR][1000 genomes]
rs55635617	1.00[AMR][1000 genomes]
rs56038936	1.00[AMR][1000 genomes]
rs56209507	1.00[AMR][1000 genomes]
rs57225118	1.00[AMR][1000 genomes]
rs57643871	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[AMR][1000 genomes]
rs7188077	1.00[AMR][1000 genomes]
rs7193412	1.00[AMR][1000 genomes]
rs7194763	1.00[AMR][1000 genomes]
rs7195583	1.00[AMR][1000 genomes]
rs7195612	1.00[AMR][1000 genomes]
rs73524581	1.00[AMR][1000 genomes]
rs73524584	1.00[AMR][1000 genomes]
rs73536457	1.00[AMR][1000 genomes]
rs73536466	1.00[AMR][1000 genomes]
rs73536474	1.00[AMR][1000 genomes]
rs73536488	1.00[AMR][1000 genomes]
rs73536498	1.00[AMR][1000 genomes]
rs73536499	1.00[AMR][1000 genomes]
rs8045550	1.00[AMR][1000 genomes]
rs8045624	1.00[AMR][1000 genomes]
rs8046609	1.00[AMR][1000 genomes]
rs8047743	1.00[AMR][1000 genomes]
rs8048656	1.00[AMR][1000 genomes]
rs8049589	1.00[AMR][1000 genomes]
rs8050578	1.00[AMR][1000 genomes]
rs8058475	1.00[AMR][1000 genomes]
rs893926	1.00[AMR][1000 genomes]
rs893927	1.00[AMR][1000 genomes]
rs9921630	1.00[AMR][1000 genomes]
rs9934046	1.00[AMR][1000 genomes]
rs9941201	1.00[AMR][1000 genomes]
rs9941300	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	nsv905730	chr16:30667031-30681816	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
11	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
12	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

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30672600-30682000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr16:30672800-30682000	Strong transcription	Lung	lung
3	chr16:30672800-30682000	Strong transcription	A549	lung
4	chr16:30673000-30682000	Strong transcription	Aorta	Aorta
5	chr16:30673000-30682400	Genic enhancers	Placenta	Placenta
6	chr16:30673000-30682400	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr16:30673200-30682400	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr16:30673200-30682600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr16:30673200-30682600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr16:30673200-30682600	Strong transcription	Ovary	ovary
11	chr16:30673400-30681200	Strong transcription	Fetal Lung	lung
12	chr16:30673400-30682600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:30673400-30682600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr16:30673400-30682600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:30673400-30682800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr16:30673600-30681800	Strong transcription	HepG2	liver
17	chr16:30673600-30682600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr16:30673600-30682600	Strong transcription	Fetal Stomach	stomach
19	chr16:30673600-30683800	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr16:30673800-30680600	Strong transcription	Liver	Liver
21	chr16:30673800-30682000	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr16:30673800-30682200	Strong transcription	Esophagus	oesophagus
23	chr16:30673800-30682400	Strong transcription	Fetal Muscle Trunk	muscle
24	chr16:30673800-30682400	Strong transcription	Rectal Smooth Muscle	rectum
25	chr16:30673800-30682600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr16:30673800-30682600	Strong transcription	Brain Substantia Nigra	brain
27	chr16:30673800-30682600	Strong transcription	Fetal Brain Female	brain
28	chr16:30674000-30682400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr16:30674000-30682600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr16:30674000-30682600	Strong transcription	Left Ventricle	heart
31	chr16:30674200-30682600	Strong transcription	Brain Germinal Matrix	brain
32	chr16:30674200-30682600	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr16:30674600-30682600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr16:30674600-30683000	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr16:30674800-30681800	Strong transcription	Small Intestine	intestine
36	chr16:30674800-30683600	Strong transcription	Thymus	Thymus
37	chr16:30675000-30682000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr16:30675000-30682600	Strong transcription	Fetal Thymus	thymus
39	chr16:30675200-30680800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr16:30675200-30682400	Strong transcription	Brain Anterior Caudate	brain
41	chr16:30675200-30682400	Strong transcription	Brain Cingulate Gyrus	brain
42	chr16:30675200-30682600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr16:30675200-30682600	Strong transcription	Duodenum Mucosa	Duodenum
44	chr16:30675200-30682600	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr16:30675200-30683000	Weak transcription	Fetal Kidney	kidney
46	chr16:30675400-30681400	Strong transcription	Colon Smooth Muscle	Colon
47	chr16:30675400-30681600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
48	chr16:30675400-30682000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr16:30675400-30682000	Strong transcription	Colonic Mucosa	Colon
50	chr16:30675400-30682000	Strong transcription	Pancreas	Pancrea

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