Variant report

Variant	rs4323442
Chromosome Location	chr8:96022986-96022987
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96021786..96023781-chr8:96035295..96037278,3	MCF-7	breast:
2	chr8:96022490..96024943-chr8:96031523..96033508,2	MCF-7	breast:
3	chr8:95979420..95981585-chr8:96022909..96025497,2	MCF-7	breast:
4	chr8:96021495..96024798-chr8:96025934..96027928,3	K562	blood:
5	chr8:96021154..96024035-chr8:96026303..96030842,4	MCF-7	breast:
6	chr8:96022721..96025517-chr8:96026848..96029515,2	MCF-7	breast:
7	chr8:96017089..96018665-chr8:96022753..96024345,2	MCF-7	breast:
8	chr8:96000256..96002334-chr8:96021796..96023746,2	MCF-7	breast:
9	chr8:96007661..96009980-chr8:96021483..96023958,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000156170	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10086541	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10092003	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10093594	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10096455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10097930	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10098197	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10098453	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100089	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10103841	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10105437	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10106491	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10110635	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10111154	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10111300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112230	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10113545	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1031388	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10504939	1.00[CHB][hapmap]
rs11774085	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776189	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11777353	1.00[CHB][hapmap]
rs11778553	0.81[CEU][hapmap]
rs11779506	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11779698	1.00[CHB][hapmap]
rs11780931	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11781001	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11781040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11781429	1.00[CHB][hapmap]
rs11781619	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11781757	1.00[CHB][hapmap]
rs11782818	0.81[CEU][hapmap]
rs11783522	1.00[CHB][hapmap]
rs11783589	1.00[CHB][hapmap]
rs11783878	0.81[CEU][hapmap]
rs11783941	1.00[CHB][hapmap]
rs11784178	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786088	1.00[CHB][hapmap]
rs11786380	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786389	1.00[CHB][hapmap]
rs11786878	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12056517	1.00[CHB][hapmap]
rs13250762	1.00[CHB][hapmap]
rs13279040	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1545480	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs16917081	1.00[CHB][hapmap]
rs16917082	1.00[CHB][hapmap]
rs16917093	1.00[CHB][hapmap]
rs16917117	0.87[CEU][hapmap]
rs16917224	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16917233	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17359493	1.00[CHB][hapmap]
rs17665737	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs2340536	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2599711	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2599713	0.93[ASN][1000 genomes]
rs2599714	0.93[ASN][1000 genomes]
rs2599715	0.93[ASN][1000 genomes]
rs2678823	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2678829	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28363725	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28378156	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28399553	0.81[CEU][hapmap]
rs28406132	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28419772	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28440026	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28477467	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28496357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28616734	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28651964	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28712702	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34700722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35518242	0.81[ASN][1000 genomes]
rs3802191	0.81[CEU][hapmap]
rs4345531	1.00[CHB][hapmap]
rs56901035	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57925408	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61596977	0.86[EUR][1000 genomes]
rs6471505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471506	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6651271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6651272	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6985880	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989862	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7002940	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008542	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71532343	0.81[ASN][1000 genomes]
rs73276406	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73276417	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73276437	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73276439	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73276444	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7812312	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818688	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826046	0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7826196	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7832570	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842703	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7842715	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9297950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297951	0.93[CEU][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv524876	chr8:96000919-96027306	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4323442	C8orf38	Cis_1M	lymphoblastoid	RTeQTL
rs4323442	INTS8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95977400-96024200	Weak transcription	Aorta	Aorta
2	chr8:96001200-96023400	Weak transcription	Liver	Liver
3	chr8:96003200-96032600	Weak transcription	Gastric	stomach
4	chr8:96009000-96036400	Weak transcription	Spleen	Spleen
5	chr8:96009800-96023000	Weak transcription	Adipose Nuclei	Adipose
6	chr8:96018400-96023000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr8:96019800-96023200	Weak transcription	Lung	lung
8	chr8:96021400-96023800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr8:96021600-96023000	Enhancers	NHDF-Ad	bronchial
10	chr8:96021600-96023400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:96021600-96023400	Enhancers	Placenta	Placenta
12	chr8:96021600-96023600	Enhancers	Primary hematopoietic stem cells	blood
13	chr8:96021600-96023600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:96021600-96024800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:96021600-96027000	Enhancers	HepG2	liver
16	chr8:96021800-96024800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:96021800-96025400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:96022000-96023000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr8:96022200-96023600	Enhancers	Fetal Thymus	thymus
20	chr8:96022400-96023400	Enhancers	Fetal Muscle Leg	muscle
21	chr8:96022400-96023600	Enhancers	Fetal Muscle Trunk	muscle
22	chr8:96022600-96024200	Enhancers	A549	lung
23	chr8:96022600-96024800	Enhancers	NHLF	lung
24	chr8:96022600-96025000	Weak transcription	Fetal Stomach	stomach

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