Variant report

Variant	rs3133827
Chromosome Location	chr8:104331362-104331363
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104309684..104313119-chr8:104328267..104333017,4	MCF-7	breast:
2	chr8:104318712..104321595-chr8:104330139..104332072,2	MCF-7	breast:
3	chr8:104327755..104331504-chr8:104332133..104335041,3	K562	blood:
4	chr8:104331335..104334252-chr8:104345911..104348093,2	MCF-7	breast:
5	chr8:104310098..104313493-chr8:104328757..104332596,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247081	Chromatin interaction
ENSG00000164930	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1004468	0.95[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs10505042	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1053917	0.90[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs1095713	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1095714	0.91[ASN][1000 genomes]
rs11781252	0.95[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs11987172	0.89[ASN][1000 genomes]
rs12164188	0.94[ASN][1000 genomes]
rs12546491	0.95[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs12550097	0.96[ASN][1000 genomes]
rs1357354	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1370008	0.89[ASN][1000 genomes]
rs1370009	0.89[ASN][1000 genomes]
rs1464550	0.88[ASN][1000 genomes]
rs1464552	0.88[ASN][1000 genomes]
rs1522708	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1522710	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1522711	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1522712	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1522713	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs16870346	0.95[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs1851483	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1916117	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2010308	0.91[ASN][1000 genomes]
rs2131860	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs2388532	0.92[ASN][1000 genomes]
rs2642363	0.91[ASN][1000 genomes]
rs2642364	0.91[ASN][1000 genomes]
rs2642366	0.91[ASN][1000 genomes]
rs2642368	0.91[ASN][1000 genomes]
rs2687351	0.91[ASN][1000 genomes]
rs28392906	0.93[ASN][1000 genomes]
rs2917550	0.89[ASN][1000 genomes]
rs2934719	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2948447	0.91[ASN][1000 genomes]
rs35019987	0.89[ASN][1000 genomes]
rs35935697	0.94[ASN][1000 genomes]
rs3736047	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3808553	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3808554	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3808556	0.96[ASN][1000 genomes]
rs3808559	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4734698	0.89[ASN][1000 genomes]
rs62525511	0.96[ASN][1000 genomes]
rs7008838	0.90[ASN][1000 genomes]
rs7012843	0.88[ASN][1000 genomes]
rs827530	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs827534	0.85[ASN][1000 genomes]
rs827535	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs827536	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs827550	0.96[ASN][1000 genomes]
rs827552	0.96[ASN][1000 genomes]
rs827554	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs827578	0.95[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs827579	0.95[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs827580	0.95[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs827581	0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs827582	0.95[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs827583	0.95[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs827584	0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs827585	0.90[CHB][hapmap]
rs827586	0.81[ASN][1000 genomes]
rs827587	0.91[CHB][hapmap];0.80[ASN][1000 genomes]
rs827588	0.90[CHB][hapmap]
rs844136	0.95[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs865461	0.94[ASN][1000 genomes]
rs865462	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1023181	chr8:104298542-104366365	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv527031	chr8:104320928-104333838	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv1016395	chr8:104327541-104473005	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104311600-104343600	Weak transcription	Spleen	Spleen
2	chr8:104311800-104331400	Weak transcription	Liver	Liver
3	chr8:104311800-104331400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:104311800-104343600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:104312000-104337200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr8:104312000-104337200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr8:104312000-104343800	Weak transcription	Small Intestine	intestine
8	chr8:104312000-104348400	Weak transcription	Thymus	Thymus
9	chr8:104312000-104350200	Weak transcription	Esophagus	oesophagus
10	chr8:104312200-104337200	Weak transcription	Brain Anterior Caudate	brain
11	chr8:104312200-104337800	Weak transcription	Primary T cells from cord blood	blood
12	chr8:104312200-104339000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:104312400-104331400	Weak transcription	Fetal Stomach	stomach
14	chr8:104312400-104332600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:104312400-104345000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:104312400-104345000	Weak transcription	Right Ventricle	heart
17	chr8:104312400-104350000	Weak transcription	Lung	lung
18	chr8:104312600-104337200	Weak transcription	Brain Angular Gyrus	brain
19	chr8:104312600-104342400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr8:104312600-104344800	Weak transcription	Fetal Intestine Small	intestine
21	chr8:104312600-104350000	Weak transcription	Colon Smooth Muscle	Colon
22	chr8:104313200-104336800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr8:104317400-104354000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr8:104317600-104345800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr8:104318000-104333800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:104318000-104345200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:104318200-104342600	Weak transcription	Brain Substantia Nigra	brain
28	chr8:104318600-104343400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr8:104319400-104334000	Weak transcription	Brain Hippocampus Middle	brain
30	chr8:104319400-104347200	Weak transcription	Hela-S3	cervix
31	chr8:104320400-104343600	Weak transcription	Fetal Intestine Large	intestine
32	chr8:104320600-104337200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:104320800-104337000	Weak transcription	HSMMtube	muscle
34	chr8:104321000-104331400	Weak transcription	Ovary	ovary
35	chr8:104321200-104331400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr8:104321200-104331800	Weak transcription	Dnd41	blood
37	chr8:104321400-104332800	Weak transcription	Osteobl	bone
38	chr8:104321400-104337200	Weak transcription	NHLF	lung
39	chr8:104321400-104342000	Weak transcription	Placenta	Placenta
40	chr8:104321400-104358800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:104321600-104331600	Weak transcription	Adipose Nuclei	Adipose
42	chr8:104321600-104333800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:104321600-104350200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:104322000-104337000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr8:104322400-104337000	Weak transcription	Aorta	Aorta
46	chr8:104322400-104337000	Weak transcription	HUVEC	blood vessel
47	chr8:104322800-104336800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr8:104322800-104350200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:104323600-104331600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr8:104323600-104332400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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