Variant report

Variant	rs7205954
Chromosome Location	chr16:31739247-31739248
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs58693542	1.00[EUR][1000 genomes]
rs73526430	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73526472	1.00[EUR][1000 genomes]
rs74017544	1.00[EUR][1000 genomes]
rs74017545	1.00[EUR][1000 genomes]
rs74017550	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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
12	nsv905761	chr16:31730525-31812442	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	esv3446880	chr16:31734687-31891223	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 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	chr16:31725800-31753400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:31726000-31742400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr16:31726000-31747400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr16:31726200-31742600	Weak transcription	Ovary	ovary
6	chr16:31726200-31745600	Weak transcription	Colonic Mucosa	Colon
7	chr16:31726400-31750000	Weak transcription	HUVEC	blood vessel
8	chr16:31726400-31750800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr16:31726600-31740000	Weak transcription	NHDF-Ad	bronchial
10	chr16:31726600-31741000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr16:31726600-31743200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr16:31726600-31744000	Weak transcription	K562	blood
13	chr16:31726600-31748600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr16:31727000-31745000	Weak transcription	HMEC	breast
15	chr16:31727200-31758800	Weak transcription	Fetal Thymus	thymus
16	chr16:31727200-31760000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr16:31727600-31741000	Weak transcription	Fetal Heart	heart
18	chr16:31727600-31743400	Weak transcription	NHEK	skin
19	chr16:31727600-31758400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr16:31727800-31741800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr16:31727800-31742400	Weak transcription	Gastric	stomach
22	chr16:31727800-31742400	Weak transcription	HSMM	muscle
23	chr16:31727800-31742600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr16:31727800-31742600	Weak transcription	Esophagus	oesophagus
25	chr16:31727800-31744800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr16:31727800-31748400	Weak transcription	HSMMtube	muscle
27	chr16:31728000-31752200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr16:31729000-31739600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
29	chr16:31729600-31742200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr16:31730000-31741600	Weak transcription	Dnd41	blood
31	chr16:31730000-31758200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:31730200-31751000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr16:31730600-31742000	Weak transcription	Colon Smooth Muscle	Colon
34	chr16:31730600-31742400	Weak transcription	Brain Angular Gyrus	brain
35	chr16:31730600-31742400	Weak transcription	Brain Anterior Caudate	brain
36	chr16:31730600-31742600	Weak transcription	Pancreas	Pancrea
37	chr16:31731000-31742400	Weak transcription	Psoas Muscle	Psoas
38	chr16:31731000-31742400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr16:31731000-31742600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr16:31731600-31748200	Weak transcription	Right Ventricle	heart
41	chr16:31732000-31740200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr16:31733000-31743600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr16:31733400-31743000	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr16:31733600-31741000	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr16:31733600-31743800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
46	chr16:31733800-31742400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr16:31734200-31740800	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr16:31735000-31742400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr16:31735000-31748200	Weak transcription	Osteobl	bone
50	chr16:31735200-31740000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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