Variant report

Variant	rs16932940
Chromosome Location	chr8:67424464-67424465
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:67423189..67428522-chr8:67623234..67628071,7	MCF-7	breast:
2	chr8:67424386..67425010-chr8:67524674..67525587,2	MCF-7	breast:
3	chr8:67417099..67419629-chr8:67424131..67426273,2	MCF-7	breast:
4	chr8:67398115..67399973-chr8:67424030..67426495,2	MCF-7	breast:
5	chr8:67422088..67426308-chr8:67518696..67523583,8	MCF-7	breast:
6	chr8:67424089..67425027-chr8:67520588..67521105,2	MCF-7	breast:
7	chr8:67421561..67429070-chr8:67518939..67527775,32	MCF-7	breast:
8	chr8:67424323..67425873-chr8:67625321..67626734,5	MCF-7	breast:
9	chr8:67424158..67425815-chr8:67434087..67435662,5	MCF-7	breast:
10	chr8:67345421..67347646-chr8:67424128..67426947,2	MCF-7	breast:
11	chr8:67424259..67425739-chr8:67434384..67435598,12	MCF-7	breast:
12	chr8:67371694..67372212-chr8:67424421..67425018,2	MCF-7	breast:
13	chr8:67422601..67431884-chr8:67622296..67628668,31	MCF-7	breast:
14	chr8:67424243..67425486-chr8:67521356..67522211,7	MCF-7	breast:
15	chr8:67423253..67428167-chr8:67524174..67527584,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104205	Chromatin interaction
ENSG00000185697	Chromatin interaction
ENSG00000147576	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10092120	0.85[ASN][1000 genomes]
rs10095700	0.94[CHB][hapmap];0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs12265	0.82[CHB][hapmap]
rs12541034	1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12545198	0.91[CHB][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12545483	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs12547055	0.81[CHB][hapmap]
rs12547731	0.88[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs16932908	0.88[CHB][hapmap]
rs16932942	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2004791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28557066	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34089487	0.81[AMR][1000 genomes]
rs3824263	0.83[CHB][hapmap]
rs6651308	0.82[CHB][hapmap]
rs6995972	0.94[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs736458	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs746787	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs746789	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643398	0.82[CHB][hapmap]
rs9643582	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv516599	chr8:67423997-67432106	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67419800-67424600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:67419800-67430000	Weak transcription	Psoas Muscle	Psoas
3	chr8:67420000-67427600	Weak transcription	Liver	Liver
4	chr8:67420400-67424600	Weak transcription	Fetal Lung	lung
5	chr8:67420600-67424600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:67420600-67424600	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:67420600-67424600	Weak transcription	Right Atrium	heart
8	chr8:67420600-67425400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr8:67420600-67425600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr8:67420800-67424600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:67421000-67424600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:67421000-67426000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:67421200-67424600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr8:67421600-67424800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr8:67422600-67424600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:67422800-67425000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:67423000-67424600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:67423200-67424800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr8:67423200-67427200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:67423200-67427800	Enhancers	Fetal Heart	heart
21	chr8:67423400-67425800	Genic enhancers	Brain Cingulate Gyrus	brain
22	chr8:67423600-67424600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:67423600-67424600	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr8:67423600-67425400	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr8:67423600-67426000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr8:67423600-67433600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:67423800-67424600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr8:67423800-67424600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:67423800-67424600	Enhancers	Stomach Smooth Muscle	stomach
30	chr8:67423800-67425800	Enhancers	Brain Hippocampus Middle	brain
31	chr8:67423800-67426200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:67423800-67426600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr8:67423800-67426600	Enhancers	HSMM	muscle
34	chr8:67423800-67428400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:67424000-67424600	Enhancers	Brain Angular Gyrus	brain
36	chr8:67424000-67426600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:67424200-67424800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr8:67424200-67424800	Enhancers	HSMMtube	muscle
39	chr8:67424200-67425400	Enhancers	Muscle Satellite Cultured Cells	--
40	chr8:67424200-67425400	Enhancers	HMEC	breast
41	chr8:67424200-67425600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr8:67424400-67424600	Enhancers	A549	lung
43	chr8:67424400-67424800	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr8:67424400-67424800	Enhancers	Esophagus	oesophagus
45	chr8:67424400-67424800	Enhancers	Fetal Kidney	kidney
46	chr8:67424400-67424800	Enhancers	Osteobl	bone
47	chr8:67424400-67425000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:67424400-67425000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:67424400-67425000	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr8:67424400-67425000	Enhancers	Monocytes-CD14+_RO01746	blood

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