Variant report

Variant	rs74017519
Chromosome Location	chr16:31730104-31730105
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:31482489..31484818-chr16:31728466..31730917,2	MCF-7	breast:
2	chr16:31728442..31730658-chr20:45988564..45991116,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140682	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1354994	1.00[AMR][1000 genomes]
rs1395526	1.00[AMR][1000 genomes]
rs1876507	1.00[AMR][1000 genomes]
rs3905907	1.00[AMR][1000 genomes]
rs3913869	1.00[AMR][1000 genomes]
rs4889561	1.00[AMR][1000 genomes]
rs55771542	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55801950	1.00[AMR][1000 genomes]
rs56007329	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56279146	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58461706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61467517	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6565283	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6565292	1.00[AMR][1000 genomes]
rs7193710	1.00[AMR][1000 genomes]
rs74015561	1.00[AMR][1000 genomes]
rs74017509	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017511	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017517	1.00[AMR][1000 genomes]
rs74017525	0.86[AFR][1000 genomes]
rs74017527	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017528	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017534	1.00[AMR][1000 genomes]
rs8044900	1.00[AMR][1000 genomes]
rs8047836	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8049984	1.00[AMR][1000 genomes]
rs8050055	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8050193	1.00[AMR][1000 genomes]
rs8050428	1.00[AMR][1000 genomes]
rs8050437	1.00[AMR][1000 genomes]
rs8052997	1.00[AMR][1000 genomes]
rs8055446	1.00[AMR][1000 genomes]
rs8057397	1.00[AMR][1000 genomes]
rs8062868	1.00[AMR][1000 genomes]
rs9928474	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	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
2	esv3344221	chr16:31526786-31821640	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	esv3323903	chr16:31526802-31821640	Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	esv3504445	chr16:31526873-31821580	Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	esv3504446	chr16:31526873-31821580	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	esv3366795	chr16:31534951-31827424	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
7	nsv833195	chr16:31576112-31763222	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv1067321	chr16:31652036-31959992	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
9	nsv918074	chr16:31669781-31935033	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv1063037	chr16:31669981-31934894	Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv542903	chr16:31669981-31934894	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31725400-31742000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:31725600-31735800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:31725800-31753400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:31726000-31742400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr16:31726000-31747400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr16:31726200-31730200	Weak transcription	Brain Anterior Caudate	brain
7	chr16:31726200-31730600	Strong transcription	Fetal Muscle Trunk	muscle
8	chr16:31726200-31734200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr16:31726200-31736600	Weak transcription	Aorta	Aorta
10	chr16:31726200-31736800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr16:31726200-31742600	Weak transcription	Ovary	ovary
12	chr16:31726200-31745600	Weak transcription	Colonic Mucosa	Colon
13	chr16:31726400-31736000	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr16:31726400-31736600	Weak transcription	Small Intestine	intestine
15	chr16:31726400-31750000	Weak transcription	HUVEC	blood vessel
16	chr16:31726400-31750800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr16:31726600-31730600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr16:31726600-31731200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr16:31726600-31734400	Weak transcription	Fetal Kidney	kidney
20	chr16:31726600-31734600	Weak transcription	Fetal Brain Male	brain
21	chr16:31726600-31734800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr16:31726600-31734800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr16:31726600-31736000	Weak transcription	Placenta	Placenta
24	chr16:31726600-31736200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr16:31726600-31740000	Weak transcription	NHDF-Ad	bronchial
26	chr16:31726600-31741000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr16:31726600-31743200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr16:31726600-31744000	Weak transcription	K562	blood
29	chr16:31726600-31748600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr16:31726800-31736800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr16:31727000-31730200	Weak transcription	Adipose Nuclei	Adipose
32	chr16:31727000-31732200	ZNF genes & repeats	GM12878-XiMat	blood
33	chr16:31727000-31745000	Weak transcription	HMEC	breast
34	chr16:31727200-31730200	Weak transcription	Brain Angular Gyrus	brain
35	chr16:31727200-31734000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr16:31727200-31736200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr16:31727200-31758800	Weak transcription	Fetal Thymus	thymus
38	chr16:31727200-31760000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr16:31727400-31733600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr16:31727400-31736000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr16:31727400-31736600	Weak transcription	Brain Hippocampus Middle	brain
42	chr16:31727600-31733800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr16:31727600-31734400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr16:31727600-31736800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr16:31727600-31741000	Weak transcription	Fetal Heart	heart
46	chr16:31727600-31743400	Weak transcription	NHEK	skin
47	chr16:31727600-31758400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr16:31727800-31730400	Weak transcription	Fetal Intestine Large	intestine
49	chr16:31727800-31731400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr16:31727800-31731400	Weak transcription	NHLF	lung

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