Variant report

Variant	rs12541387
Chromosome Location	chr8:100647765-100647766
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:100641638..100644745-chr8:100644767..100647893,3	K562	blood:
2	chr8:100637655..100639702-chr8:100646117..100648663,2	MCF-7	breast:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1039448	0.85[ASN][1000 genomes]
rs10955213	0.88[ASN][1000 genomes]
rs10955215	0.91[ASN][1000 genomes]
rs11986595	0.90[ASN][1000 genomes]
rs12542214	0.91[ASN][1000 genomes]
rs12544095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12544691	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12550617	0.90[ASN][1000 genomes]
rs12676009	0.90[ASN][1000 genomes]
rs12678012	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12680257	0.87[EUR][1000 genomes]
rs12681244	0.89[ASN][1000 genomes]
rs1386374	0.99[ASN][1000 genomes]
rs1386377	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897530	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1788152	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1788157	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2035619	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2084556	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2280061	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2510200	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2510202	0.86[ASN][1000 genomes]
rs2510204	0.87[EUR][1000 genomes]
rs3099853	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3103102	0.85[ASN][1000 genomes]
rs3103702	0.82[ASN][1000 genomes]
rs3105200	0.82[ASN][1000 genomes]
rs3105202	0.82[ASN][1000 genomes]
rs3134151	0.82[ASN][1000 genomes]
rs3134153	0.80[ASN][1000 genomes]
rs3134154	0.82[ASN][1000 genomes]
rs3134157	0.81[ASN][1000 genomes]
rs3134160	0.83[ASN][1000 genomes]
rs3134165	0.83[ASN][1000 genomes]
rs3134169	0.90[ASN][1000 genomes]
rs3134170	0.90[ASN][1000 genomes]
rs4735615	0.90[ASN][1000 genomes]
rs4735619	0.90[ASN][1000 genomes]
rs4735620	0.92[ASN][1000 genomes]
rs4735627	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56174158	0.88[ASN][1000 genomes]
rs56193096	0.80[ASN][1000 genomes]
rs57636892	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59375661	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61097926	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6468690	0.90[ASN][1000 genomes]
rs6985574	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs717365	0.90[ASN][1000 genomes]
rs721995	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72674642	0.88[ASN][1000 genomes]
rs72674644	0.92[ASN][1000 genomes]
rs72674651	0.88[ASN][1000 genomes]
rs72674675	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72674676	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72674678	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72674698	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72676204	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72676222	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7825783	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs965657	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv524617	chr8:100032844-100717925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1022914	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv539695	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv891226	chr8:100295634-100708595	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv891227	chr8:100295634-100743556	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1019256	chr8:100336249-100852803	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
7	nsv539698	chr8:100336249-100852803	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
8	esv2758167	chr8:100404151-100838624	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
9	esv2759633	chr8:100404151-100838624	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1029616	chr8:100442135-100796643	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1023922	chr8:100474230-100702005	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
12	nsv831408	chr8:100523523-100721507	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1033795	chr8:100557344-100666640	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv611813	chr8:100635915-100682615	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100622200-100655400	Weak transcription	Primary B cells from cord blood	blood
2	chr8:100631200-100648000	Weak transcription	Fetal Lung	lung
3	chr8:100631600-100649000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:100631600-100654400	Weak transcription	Left Ventricle	heart
5	chr8:100631600-100658800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:100631600-100683800	Weak transcription	Aorta	Aorta
7	chr8:100632000-100654000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:100632200-100654200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr8:100637000-100648600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:100637000-100654400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:100637800-100658600	Weak transcription	Psoas Muscle	Psoas
12	chr8:100642600-100648000	Weak transcription	Fetal Brain Male	brain
13	chr8:100643400-100676800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:100645800-100649800	Enhancers	Fetal Heart	heart
15	chr8:100645800-100674800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:100646000-100657200	Weak transcription	Small Intestine	intestine
17	chr8:100646200-100661800	Weak transcription	Thymus	Thymus
18	chr8:100646600-100686400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:100646800-100648000	Weak transcription	K562	blood
20	chr8:100646800-100648800	Weak transcription	Fetal Kidney	kidney
21	chr8:100646800-100649200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:100646800-100674400	Weak transcription	Dnd41	blood
23	chr8:100647000-100648000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:100647000-100648200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:100647000-100648200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr8:100647000-100648800	Enhancers	Primary T cells from cord blood	blood
27	chr8:100647000-100649000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr8:100647000-100649200	Weak transcription	HepG2	liver
29	chr8:100647000-100650800	Enhancers	Fetal Intestine Large	intestine
30	chr8:100647000-100667000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr8:100647000-100667200	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr8:100647000-100667800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr8:100647200-100648200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:100647200-100651400	Enhancers	Fetal Intestine Small	intestine
35	chr8:100647200-100667000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr8:100647400-100648200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr8:100647400-100648800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:100647400-100649000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr8:100647400-100667200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links