Variant report

Variant	rs2112416
Chromosome Location	chr5:80181147-80181148
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80056999..80059989-chr5:80180309..80182512,2	K562	blood:
2	chr5:80176112..80177820-chr5:80178405..80181229,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10942930	0.81[ASN][1000 genomes]
rs10942931	0.90[ASN][1000 genomes]
rs10942932	0.91[ASN][1000 genomes]
rs12521082	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12522063	0.90[ASN][1000 genomes]
rs1363365	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1592878	0.82[ASN][1000 genomes]
rs1979005	0.84[ASN][1000 genomes]
rs3797897	0.82[ASN][1000 genomes]
rs4704686	0.84[ASN][1000 genomes]
rs4704687	0.84[ASN][1000 genomes]
rs56382955	0.88[ASN][1000 genomes]
rs58508689	0.82[ASN][1000 genomes]
rs6151826	0.86[JPT][hapmap]
rs6151901	0.82[ASN][1000 genomes]
rs6151906	0.82[ASN][1000 genomes]
rs6864713	0.87[ASN][1000 genomes]
rs6869680	0.86[ASN][1000 genomes]
rs6885935	0.90[ASN][1000 genomes]
rs72765599	0.84[ASN][1000 genomes]
rs72767343	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv882231	chr5:79984714-80187929	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv598747	chr5:79996632-80322712	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1016100	chr5:80023679-80254194	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1021784	chr5:80023679-80313586	ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv537787	chr5:80023679-80313586	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv1799323	chr5:80179312-80219650	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80163000-80181400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr5:80163200-80186600	Weak transcription	HSMMtube	muscle
3	chr5:80163200-80188400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:80167800-80187200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:80169600-80190600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:80171200-80183600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:80171200-80186400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:80171400-80196400	Weak transcription	Hela-S3	cervix
9	chr5:80171800-80186800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:80172200-80186400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:80173600-80181400	Weak transcription	Ovary	ovary
12	chr5:80173600-80208000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr5:80173800-80181200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:80173800-80186200	Weak transcription	Fetal Brain Female	brain
15	chr5:80173800-80188600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr5:80174000-80181400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:80174000-80181400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:80174000-80181400	Weak transcription	Osteobl	bone
19	chr5:80174000-80183000	Weak transcription	Gastric	stomach
20	chr5:80174000-80185000	Weak transcription	Thymus	Thymus
21	chr5:80174000-80185000	Weak transcription	Dnd41	blood
22	chr5:80174000-80185600	Weak transcription	Lung	lung
23	chr5:80174000-80186400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:80174000-80186400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr5:80174000-80186600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:80174000-80186600	Weak transcription	Fetal Lung	lung
27	chr5:80174000-80186800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:80174000-80187200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr5:80174000-80187200	Weak transcription	Right Ventricle	heart
30	chr5:80174000-80188200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr5:80174000-80188400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:80174000-80188400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:80174000-80188600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:80174000-80188600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:80174000-80190200	Weak transcription	Brain Anterior Caudate	brain
36	chr5:80174000-80190800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr5:80174000-80191200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr5:80174000-80191400	Weak transcription	Spleen	Spleen
39	chr5:80174000-80197000	Weak transcription	Left Ventricle	heart
40	chr5:80174200-80181200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:80174200-80183600	Weak transcription	Fetal Stomach	stomach
42	chr5:80174200-80184600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr5:80174200-80185200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr5:80174200-80187200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr5:80174200-80187400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr5:80174200-80187800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:80174200-80188000	Weak transcription	Brain Angular Gyrus	brain
48	chr5:80174200-80192000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr5:80174400-80185800	Weak transcription	Primary B cells from cord blood	blood
50	chr5:80175400-80185800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links