Variant report

Variant	rs73688857
Chromosome Location	chr8:87493104-87493105
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:87489172-87495272	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:87490641-87493151	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:87492324..87497991-chr8:87518822..87522169,6	MCF-7	breast:
2	chr8:87485122..87487844-chr8:87492423..87496426,3	K562	blood:
3	chr8:87487964..87489806-chr8:87491396..87493548,2	K562	blood:
4	chr8:87485410..87488607-chr8:87490685..87493576,3	MCF-7	breast:
5	chr8:87485122..87487752-chr8:87491882..87495380,3	K562	blood:
6	chr8:87489077..87491109-chr8:87492841..87495174,2	K562	blood:

No data

Variant related genes	Relation type
CPNE3	TF binding region
RMDN1	TF binding region
ENSG00000176623	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10086188	0.88[ASN][1000 genomes]
rs10089169	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10089253	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10089317	0.83[EUR][1000 genomes]
rs10090898	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10090963	0.88[ASN][1000 genomes]
rs10092168	0.84[ASN][1000 genomes]
rs10093867	0.81[EUR][1000 genomes]
rs10094332	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10095589	0.88[ASN][1000 genomes]
rs10097546	0.81[EUR][1000 genomes]
rs10097866	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10098365	0.88[ASN][1000 genomes]
rs10100182	0.97[ASN][1000 genomes]
rs10100247	0.88[ASN][1000 genomes]
rs10100254	1.00[ASN][1000 genomes]
rs10100368	0.97[ASN][1000 genomes]
rs10100698	0.83[EUR][1000 genomes]
rs10106390	0.88[ASN][1000 genomes]
rs10107117	0.88[ASN][1000 genomes]
rs10107571	0.88[ASN][1000 genomes]
rs10108586	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10109677	0.81[EUR][1000 genomes]
rs10110096	0.97[ASN][1000 genomes]
rs10110323	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10481195	0.90[ASN][1000 genomes]
rs10504823	0.83[EUR][1000 genomes]
rs10956820	0.86[EUR][1000 genomes]
rs10956821	0.84[EUR][1000 genomes]
rs10956822	0.86[EUR][1000 genomes]
rs10956871	0.88[ASN][1000 genomes]
rs11774253	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11774499	0.88[ASN][1000 genomes]
rs11776698	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11781993	0.81[EUR][1000 genomes]
rs11783382	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11984519	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11986423	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11994508	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11997927	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11998558	0.90[ASN][1000 genomes]
rs12155979	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12155981	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12156004	0.82[EUR][1000 genomes]
rs12216783	0.83[EUR][1000 genomes]
rs12335013	0.84[EUR][1000 genomes]
rs13265266	0.80[EUR][1000 genomes]
rs16915375	0.88[ASN][1000 genomes]
rs16915389	0.88[ASN][1000 genomes]
rs17681534	0.83[EUR][1000 genomes]
rs17681826	0.84[EUR][1000 genomes]
rs28384362	0.87[EUR][1000 genomes]
rs28397606	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28416254	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28433311	0.82[EUR][1000 genomes]
rs28438974	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28504479	0.81[EUR][1000 genomes]
rs28514445	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28540009	0.88[ASN][1000 genomes]
rs28613262	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28680173	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28687116	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28715255	0.84[EUR][1000 genomes]
rs2976194	0.83[EUR][1000 genomes]
rs3087641	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4440616	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55671538	0.82[EUR][1000 genomes]
rs55871514	0.86[EUR][1000 genomes]
rs57638937	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58837061	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6471295	0.81[EUR][1000 genomes]
rs6471317	0.86[EUR][1000 genomes]
rs6651177	0.88[ASN][1000 genomes]
rs6651268	0.88[ASN][1000 genomes]
rs67332431	0.97[ASN][1000 genomes]
rs6980476	0.88[ASN][1000 genomes]
rs6992624	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6993497	0.86[EUR][1000 genomes]
rs6993612	0.84[EUR][1000 genomes]
rs7015772	0.84[EUR][1000 genomes]
rs7018083	0.91[ASN][1000 genomes]
rs72690416	0.97[ASN][1000 genomes]
rs72690443	0.88[ASN][1000 genomes]
rs72690445	0.88[ASN][1000 genomes]
rs72690447	0.88[ASN][1000 genomes]
rs72690455	0.88[ASN][1000 genomes]
rs72690457	0.88[ASN][1000 genomes]
rs72690474	0.88[ASN][1000 genomes]
rs73688817	0.83[EUR][1000 genomes]
rs73688823	0.81[EUR][1000 genomes]
rs73688824	0.81[EUR][1000 genomes]
rs73688827	0.84[EUR][1000 genomes]
rs73688856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73688858	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73688859	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73688862	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818436	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7823951	0.84[ASN][1000 genomes]
rs7824873	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7833201	0.84[ASN][1000 genomes]
rs7837581	0.82[EUR][1000 genomes]
rs7839096	0.81[EUR][1000 genomes]
rs7843272	0.83[EUR][1000 genomes]
rs7843399	0.87[EUR][1000 genomes]
rs7844014	0.88[ASN][1000 genomes]
rs9297913	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9650128	0.88[ASN][1000 genomes]
rs9650129	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87441800-87507600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:87448800-87502800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:87457400-87507400	Weak transcription	Brain Angular Gyrus	brain
4	chr8:87459200-87499600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:87461000-87494200	Weak transcription	Brain Substantia Nigra	brain
6	chr8:87471000-87497800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:87473800-87494200	Weak transcription	Brain Hippocampus Middle	brain
8	chr8:87474000-87517000	Weak transcription	Small Intestine	intestine
9	chr8:87477400-87494200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr8:87477800-87494200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:87477800-87494600	Weak transcription	Aorta	Aorta
12	chr8:87478000-87494200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:87479600-87499400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:87481400-87494200	Weak transcription	Right Ventricle	heart
15	chr8:87481800-87494200	Weak transcription	Gastric	stomach
16	chr8:87481800-87494800	Weak transcription	Spleen	Spleen
17	chr8:87481800-87507400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:87481800-87507600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr8:87481800-87507600	Weak transcription	Esophagus	oesophagus
20	chr8:87482000-87494000	Weak transcription	Pancreas	Pancrea
21	chr8:87482000-87494200	Weak transcription	Thymus	Thymus
22	chr8:87482000-87496400	Weak transcription	Brain Anterior Caudate	brain
23	chr8:87482000-87507600	Weak transcription	Fetal Brain Male	brain
24	chr8:87482000-87508200	Weak transcription	Fetal Heart	heart
25	chr8:87482000-87508400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:87482200-87494200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr8:87482200-87495800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:87482200-87496400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:87482200-87507600	Weak transcription	Colonic Mucosa	Colon
30	chr8:87482400-87517000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr8:87482600-87494200	Weak transcription	K562	blood
32	chr8:87482600-87494800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:87482600-87494800	Weak transcription	Lung	lung
34	chr8:87482800-87494000	Weak transcription	Fetal Stomach	stomach
35	chr8:87482800-87494200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:87482800-87494200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:87482800-87494200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr8:87482800-87496400	Weak transcription	Brain Germinal Matrix	brain
39	chr8:87482800-87503400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr8:87482800-87506600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:87482800-87519600	Weak transcription	HUVEC	blood vessel
42	chr8:87483000-87494200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:87483000-87508400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr8:87483200-87493400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr8:87483200-87494000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr8:87483200-87494200	Weak transcription	Ovary	ovary
47	chr8:87483200-87505400	Weak transcription	Hela-S3	cervix
48	chr8:87483400-87494800	Weak transcription	Fetal Brain Female	brain
49	chr8:87484400-87494800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr8:87484600-87494000	Weak transcription	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links