Variant report

Variant	rs16832371
Chromosome Location	chr1:45446910-45446911
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45444980..45449241-chr1:45450734..45453463,5	MCF-7	breast:
2	chr1:45442231..45443785-chr1:45444690..45447265,2	MCF-7	breast:
3	chr1:45445644..45447946-chr1:45746715..45748640,2	K562	blood:
4	chr1:45446769..45450642-chr1:45450825..45453643,3	K562	blood:
5	chr1:45444590..45447316-chr1:45478691..45480340,2	K562	blood:

Variant related genes	Relation type
ENSG00000126088	Chromatin interaction
ENSG00000070785	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11211073	1.00[YRI][hapmap]
rs1548051	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17886308	1.00[AMR][1000 genomes]
rs56740822	1.00[AMR][1000 genomes]
rs58350869	1.00[AMR][1000 genomes]
rs60338658	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
5	esv2830314	chr1:45430218-45455285	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45389200-45450200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:45414000-45450800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:45414000-45451000	Weak transcription	Spleen	Spleen
4	chr1:45421000-45450800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:45430800-45450800	Weak transcription	Brain Substantia Nigra	brain
6	chr1:45433200-45451000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:45434400-45450800	Weak transcription	Small Intestine	intestine
8	chr1:45435600-45447400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:45435600-45447600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:45436000-45447000	Strong transcription	Fetal Muscle Leg	muscle
11	chr1:45436400-45450800	Weak transcription	HMEC	breast
12	chr1:45436600-45450800	Weak transcription	Stomach Mucosa	stomach
13	chr1:45437400-45447400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:45437600-45447000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:45437600-45447200	Strong transcription	Fetal Muscle Trunk	muscle
16	chr1:45438000-45451000	Weak transcription	A549	lung
17	chr1:45438200-45447200	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr1:45438200-45450800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:45438400-45447000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:45438400-45447200	Strong transcription	Dnd41	blood
21	chr1:45438400-45451000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr1:45438600-45447200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:45438600-45450800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:45439600-45447200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr1:45439800-45447000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr1:45440400-45447000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:45440400-45447200	Strong transcription	Liver	Liver
28	chr1:45440400-45451400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:45440600-45447000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr1:45440600-45447200	Strong transcription	Brain Hippocampus Middle	brain
31	chr1:45440600-45447200	Strong transcription	Stomach Smooth Muscle	stomach
32	chr1:45440600-45447200	Strong transcription	K562	blood
33	chr1:45440800-45450800	Weak transcription	Right Ventricle	heart
34	chr1:45441000-45447200	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr1:45441400-45447200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr1:45441400-45447200	Strong transcription	Brain Anterior Caudate	brain
37	chr1:45441600-45447200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:45441600-45451200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:45442000-45447000	Strong transcription	NH-A	brain
40	chr1:45442200-45447200	Strong transcription	Osteobl	bone
41	chr1:45442400-45447200	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:45442400-45447200	Strong transcription	Adipose Nuclei	Adipose
43	chr1:45442600-45450800	Weak transcription	Fetal Heart	heart
44	chr1:45442800-45447200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:45443200-45447200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr1:45443200-45447600	Strong transcription	Fetal Stomach	stomach
47	chr1:45443200-45451000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:45443400-45451000	Weak transcription	Right Atrium	heart
49	chr1:45443600-45450800	Weak transcription	Colonic Mucosa	Colon
50	chr1:45443800-45450800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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