Variant report

Variant	rs6980470
Chromosome Location	chr8:126092957-126092958
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:126092867..126094913-chr8:126103512..126105513,2	K562	blood:
2	chr8:126070042..126072649-chr8:126091335..126093606,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164961	Chromatin interaction
ENSG00000156831	Chromatin interaction

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs1004350	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1004676	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10089455	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10089574	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10089792	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10092363	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10095627	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10105624	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10113495	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10505449	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10505450	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10505451	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11985488	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11985490	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11985491	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11985518	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11986264	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11986339	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11988640	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11989471	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11989475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993043	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11993478	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11993484	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11993487	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11996035	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11996796	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11996868	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16900175	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16900180	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16900215	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16900221	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16900222	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16900228	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16900250	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16900266	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16900269	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16900307	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16900364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900369	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1802526	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2009959	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2272682	0.88[ASN][1000 genomes]
rs2293985	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2293987	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2303521	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2303524	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2303526	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2303527	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2303528	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2303529	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2303530	0.88[ASN][1000 genomes]
rs2384917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28386832	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28394364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28447527	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28453073	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28465401	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28489055	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28498361	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28546275	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28610111	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28612575	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28624116	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28633402	0.82[ASN][1000 genomes]
rs28653090	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28685667	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28702720	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28714511	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2891636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2891655	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3736666	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3736667	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3763594	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3763595	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3763596	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3765213	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3765214	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3793445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3793446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3815873	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3860841	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3860842	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4355790	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4421364	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4421365	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4425776	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4458896	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4570178	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4570179	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57162779	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57431630	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57701401	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61506267	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6470329	0.88[ASN][1000 genomes]
rs6470330	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6470331	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6470332	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6470333	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6470334	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6470335	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6651231	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6651232	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6981141	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981164	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6981781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982708	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6989548	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7002684	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7002783	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72497351	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73704517	0.88[ASN][1000 genomes]
rs7465254	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7812319	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7813244	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7817303	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7831848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7832481	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297710	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9693702	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9792114	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030748	chr8:126012282-126137840	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS 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
3	nsv539743	chr8:126012282-126137840	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv465803	chr8:126068197-126132816	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
6	nsv612148	chr8:126068197-126132816	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126015400-126098000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:126023600-126099000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr8:126028600-126097400	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr8:126029800-126097400	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr8:126029800-126103000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:126038800-126097200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:126042400-126096800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr8:126042600-126098600	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr8:126042600-126098800	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr8:126043000-126096000	Strong transcription	Liver	Liver
11	chr8:126043000-126098000	Strong transcription	Fetal Thymus	thymus
12	chr8:126045600-126095000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:126046600-126099600	Strong transcription	Primary B cells from peripheral blood	blood
14	chr8:126046800-126096200	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr8:126052800-126103200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr8:126064200-126102800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr8:126066600-126099400	Strong transcription	Primary B cells from cord blood	blood
18	chr8:126071800-126103000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:126072800-126095600	Strong transcription	Duodenum Mucosa	Duodenum
20	chr8:126073000-126095200	Strong transcription	Adipose Nuclei	Adipose
21	chr8:126073000-126095800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr8:126073200-126095000	Strong transcription	Stomach Smooth Muscle	stomach
23	chr8:126073200-126095600	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr8:126073200-126098200	Strong transcription	Primary hematopoietic stem cells	blood
25	chr8:126073200-126098400	Strong transcription	Primary T cells from cord blood	blood
26	chr8:126073400-126095600	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr8:126073400-126096400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:126073600-126095600	Strong transcription	Fetal Lung	lung
29	chr8:126076800-126095800	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr8:126077200-126095600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr8:126078400-126096000	Strong transcription	Dnd41	blood
32	chr8:126078600-126096200	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr8:126078600-126096600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr8:126078800-126095800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:126079200-126095400	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr8:126079600-126095800	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr8:126080600-126095400	Strong transcription	HSMM	muscle
38	chr8:126081400-126095600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr8:126082000-126096200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:126082400-126094600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr8:126083800-126096000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:126083800-126097800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:126083800-126098000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:126084000-126094800	Strong transcription	NH-A	brain
45	chr8:126084000-126102400	Weak transcription	Fetal Heart	heart
46	chr8:126084200-126095600	Strong transcription	Osteobl	bone
47	chr8:126084400-126094000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr8:126084400-126096600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:126084400-126097400	Strong transcription	Placenta	Placenta
50	chr8:126084600-126096200	Strong transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links