Variant report

Variant	rs3750310
Chromosome Location	chr8:10283426-10283427
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10277398..10280414-chr8:10281254..10284079,3	K562	blood:
2	chr8:10281970..10284229-chr8:10318464..10320467,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP1L1-8	chr8:10281418-10284043	NONHSAT124985

Extended variants
information (count: 46 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10089552	0.82[JPT][hapmap]
rs10283145	0.88[CEU][hapmap];0.82[JPT][hapmap]
rs11774221	0.82[JPT][hapmap]
rs11777976	0.81[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11990519	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13252982	0.82[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13254263	0.82[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17151843	0.82[JPT][hapmap]
rs17709397	0.81[CEU][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes]
rs17765901	0.81[CEU][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes]
rs17767019	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17788148	0.82[JPT][hapmap]
rs2001364	0.82[JPT][hapmap]
rs28507213	0.85[AMR][1000 genomes]
rs28712068	0.85[AMR][1000 genomes]
rs3750311	1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4074083	1.00[JPT][hapmap]
rs4342552	1.00[JPT][hapmap]
rs4433149	0.81[CEU][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes]
rs4610752	0.81[CEU][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes]
rs4841329	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4841352	1.00[JPT][hapmap]
rs6601450	0.85[CEU][hapmap]
rs6601451	0.89[CEU][hapmap];0.82[JPT][hapmap]
rs6989657	1.00[JPT][hapmap]
rs6993610	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7005363	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs73197263	0.93[ASN][1000 genomes]
rs73197294	1.00[ASN][1000 genomes]
rs7824675	0.82[JPT][hapmap]
rs7831557	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7833781	1.00[JPT][hapmap]
rs7841921	0.82[JPT][hapmap]
rs9329221	0.92[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv890347	chr8:10153082-10331636	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv527326	chr8:10199548-10320019	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv465460	chr8:10241411-10290566	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv610265	chr8:10241411-10290566	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv610266	chr8:10250758-10294330	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
11	nsv890348	chr8:10265712-10289663	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
12	nsv610267	chr8:10268736-10526742	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3750310	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs3750310	C8orf13	Cis_1M	lymphoblastoid	RTeQTL
rs3750310	BLK	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10276000-10283800	Weak transcription	Psoas Muscle	Psoas
2	chr8:10276000-10290400	Weak transcription	Fetal Intestine Large	intestine
3	chr8:10276000-10293600	Weak transcription	Brain Substantia Nigra	brain
4	chr8:10276200-10283800	Weak transcription	Liver	Liver
5	chr8:10281000-10287200	Enhancers	Fetal Brain Male	brain
6	chr8:10281400-10284600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:10281800-10285000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:10282200-10283800	Enhancers	Fetal Lung	lung
9	chr8:10282200-10285400	Enhancers	Brain Angular Gyrus	brain
10	chr8:10282200-10285400	Enhancers	Fetal Muscle Leg	muscle
11	chr8:10282400-10283600	Genic enhancers	Spleen	Spleen
12	chr8:10282400-10283800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:10282400-10284400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr8:10282400-10284800	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr8:10282400-10285600	Enhancers	Brain Cingulate Gyrus	brain
16	chr8:10282600-10284000	Enhancers	HSMMtube	muscle
17	chr8:10282600-10284200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:10282600-10284200	Enhancers	Adipose Nuclei	Adipose
19	chr8:10282600-10284600	Enhancers	Fetal Heart	heart
20	chr8:10282600-10284600	Enhancers	Ovary	ovary
21	chr8:10282600-10284800	Enhancers	NHLF	lung
22	chr8:10282600-10285200	Enhancers	Brain Hippocampus Middle	brain
23	chr8:10282600-10295200	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr8:10282800-10284000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:10282800-10284000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr8:10282800-10284200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr8:10282800-10285200	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr8:10282800-10285200	Weak transcription	Lung	lung
29	chr8:10282800-10293800	Weak transcription	Primary T cells from cord blood	blood
30	chr8:10283000-10283600	Genic enhancers	Fetal Stomach	stomach
31	chr8:10283000-10284200	Flanking Active TSS	Colon Smooth Muscle	Colon
32	chr8:10283000-10284400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr8:10283000-10284800	Enhancers	Brain Germinal Matrix	brain
34	chr8:10283000-10285000	Enhancers	Fetal Muscle Trunk	muscle
35	chr8:10283000-10285400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr8:10283000-10291200	Weak transcription	Pancreas	Pancrea
37	chr8:10283200-10283600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr8:10283200-10283600	Enhancers	Fetal Brain Female	brain
39	chr8:10283200-10283600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr8:10283200-10284000	Enhancers	Right Atrium	heart
41	chr8:10283200-10284600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:10283200-10285400	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr8:10283200-10285600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr8:10283200-10287600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:10283200-10288600	Weak transcription	Right Ventricle	heart
46	chr8:10283200-10290800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr8:10283200-10291800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:10283200-10291800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr8:10283200-10293600	Weak transcription	Left Ventricle	heart
50	chr8:10283200-10294000	Weak transcription	Gastric	stomach

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