Variant report

Variant	rs6471354
Chromosome Location	chr8:87485483-87485484
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:87485122..87487844-chr8:87492423..87496426,3	K562	blood:
2	chr8:87482890..87486394-chr8:87519495..87522531,3	K562	blood:
3	chr8:87483086..87486857-chr8:87493543..87496770,3	MCF-7	breast:
4	chr8:87485410..87488607-chr8:87490685..87493576,3	MCF-7	breast:
5	chr8:87484355..87486736-chr8:87488754..87491029,2	MCF-7	breast:
6	chr8:87485122..87487752-chr8:87491882..87495380,3	K562	blood:

Variant related genes	Relation type
ENSG00000176623	Chromatin interaction
ENSG00000250569	Chromatin interaction

Extended variants
information (count: 119 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10086340	0.81[JPT][hapmap]
rs10087788	0.81[JPT][hapmap]
rs10088389	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10088739	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10092164	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10093238	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10093379	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10095129	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10095498	0.85[JPT][hapmap]
rs10096168	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10096443	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10097450	0.81[JPT][hapmap]
rs10103691	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10956800	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs10956853	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1142528	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs11775728	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11781016	0.87[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs11782512	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11787318	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs12543856	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes]
rs12543887	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12544731	0.80[CEU][hapmap];0.80[CHB][hapmap];0.84[JPT][hapmap]
rs12546331	0.91[ASN][1000 genomes]
rs12546802	0.81[JPT][hapmap]
rs12550142	0.81[JPT][hapmap]
rs12679811	0.81[JPT][hapmap]
rs13042	0.85[JPT][hapmap]
rs13249753	0.85[JPT][hapmap]
rs13251647	0.84[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13267782	0.81[JPT][hapmap]
rs13269259	0.81[JPT][hapmap]
rs13281414	0.81[JPT][hapmap]
rs17608598	0.84[AMR][1000 genomes]
rs17608967	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1946939	0.83[ASN][1000 genomes]
rs1946940	0.88[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2953517	0.81[JPT][hapmap]
rs2976178	0.80[JPT][hapmap]
rs2976201	0.81[JPT][hapmap]
rs3213911	0.80[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3213912	0.81[JPT][hapmap]
rs34895735	0.86[AMR][1000 genomes]
rs3883910	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3903247	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4285463	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs4490816	0.81[JPT][hapmap]
rs4587306	0.85[JPT][hapmap]
rs4961188	0.81[JPT][hapmap]
rs4961190	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4961193	0.85[JPT][hapmap]
rs4961194	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4961195	0.80[JPT][hapmap]
rs4961196	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs55727343	0.81[AMR][1000 genomes]
rs56102132	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56122533	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56268009	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56321721	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56365416	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56395805	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57326273	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62509421	0.82[AMR][1000 genomes]
rs62510798	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62510806	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62510845	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6415565	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6471273	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs6471280	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs6471296	0.85[JPT][hapmap]
rs6471309	0.85[JPT][hapmap]
rs6471345	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6471349	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471351	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471352	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6471360	0.85[JPT][hapmap]
rs6651267	0.81[JPT][hapmap]
rs6981299	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6983925	0.81[JPT][hapmap]
rs6988601	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6994005	0.83[CEU][hapmap];0.83[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6996052	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6999022	0.85[ASN][1000 genomes]
rs6999654	0.84[JPT][hapmap]
rs7003059	0.85[JPT][hapmap]
rs7006017	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7006629	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7015263	0.85[ASN][1000 genomes]
rs7015490	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs7017706	0.81[JPT][hapmap]
rs7017716	0.85[JPT][hapmap]
rs7017719	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs7459811	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7459897	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7460251	0.83[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7460286	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs7460439	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7461413	0.81[JPT][hapmap]
rs7461624	0.80[CEU][hapmap];0.84[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7463186	0.90[ASN][1000 genomes]
rs7465350	0.84[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7465511	0.85[JPT][hapmap]
rs7817738	0.91[ASN][1000 genomes]
rs7818213	0.89[ASN][1000 genomes]
rs7820234	0.81[JPT][hapmap]
rs7820697	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7822494	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7823154	0.87[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs7832493	0.81[JPT][hapmap]
rs7837569	0.85[JPT][hapmap]
rs7839601	0.81[JPT][hapmap]
rs7846090	0.81[JPT][hapmap]
rs9642913	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9773093	0.91[ASN][1000 genomes]
rs9942792	0.81[JPT][hapmap]

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	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv933966	chr8:87454655-87591558	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6471354	FAM82B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87427600-87485600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:87437800-87489600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:87441800-87507600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:87444400-87488800	Weak transcription	NHLF	lung
5	chr8:87448800-87502800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:87453200-87488600	Weak transcription	HSMMtube	muscle
7	chr8:87453400-87492000	Strong transcription	Adipose Nuclei	Adipose
8	chr8:87457400-87507400	Weak transcription	Brain Angular Gyrus	brain
9	chr8:87457800-87492000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr8:87458800-87486200	Strong transcription	Liver	Liver
11	chr8:87459200-87499600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:87460000-87492400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:87460600-87486000	Strong transcription	Dnd41	blood
14	chr8:87461000-87494200	Weak transcription	Brain Substantia Nigra	brain
15	chr8:87470000-87485800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:87471000-87497800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr8:87471800-87491600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:87473800-87488200	Weak transcription	Stomach Mucosa	stomach
19	chr8:87473800-87494200	Weak transcription	Brain Hippocampus Middle	brain
20	chr8:87474000-87517000	Weak transcription	Small Intestine	intestine
21	chr8:87476600-87491400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:87477400-87494200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:87477800-87494200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:87477800-87494600	Weak transcription	Aorta	Aorta
25	chr8:87478000-87487400	Weak transcription	Fetal Intestine Small	intestine
26	chr8:87478000-87494200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:87479000-87492400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:87479400-87486400	Strong transcription	Fetal Lung	lung
29	chr8:87479600-87499400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:87480000-87486400	Strong transcription	HMEC	breast
31	chr8:87480000-87491400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:87480600-87492000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:87480800-87486000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:87480800-87487600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr8:87480800-87489200	Strong transcription	Primary hematopoietic stem cells	blood
36	chr8:87481000-87485600	Strong transcription	HSMM	muscle
37	chr8:87481400-87494200	Weak transcription	Right Ventricle	heart
38	chr8:87481800-87486800	Weak transcription	NH-A	brain
39	chr8:87481800-87488000	Weak transcription	Psoas Muscle	Psoas
40	chr8:87481800-87494200	Weak transcription	Gastric	stomach
41	chr8:87481800-87494800	Weak transcription	Spleen	Spleen
42	chr8:87481800-87507400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr8:87481800-87507600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:87481800-87507600	Weak transcription	Esophagus	oesophagus
45	chr8:87482000-87487000	Weak transcription	HepG2	liver
46	chr8:87482000-87494000	Weak transcription	Pancreas	Pancrea
47	chr8:87482000-87494200	Weak transcription	Thymus	Thymus
48	chr8:87482000-87496400	Weak transcription	Brain Anterior Caudate	brain
49	chr8:87482000-87507600	Weak transcription	Fetal Brain Male	brain
50	chr8:87482000-87508200	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links