Variant report

Variant	rs12679577
Chromosome Location	chr8:91067028-91067029
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:91066157..91069252-chr8:91070814..91073830,4	K562	blood:
2	chr8:91066837..91069760-chr8:91090559..91092238,2	K562	blood:

Variant related genes	Relation type
ENSG00000104327	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10088826	0.85[CEU][hapmap]
rs10092098	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10104321	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1011682	0.82[CEU][hapmap]
rs10216992	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1061302	0.81[CEU][hapmap]
rs1063045	0.81[CEU][hapmap]
rs1063054	0.85[JPT][hapmap]
rs10755930	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10956375	0.82[CEU][hapmap]
rs10956431	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11778638	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11782032	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs11784904	0.84[ASN][1000 genomes]
rs12171665	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs12547667	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12549107	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13264478	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13265193	0.90[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13275276	0.82[CEU][hapmap]
rs13278453	0.81[CEU][hapmap]
rs13312935	0.82[CEU][hapmap]
rs1800645	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1805790	0.82[CEU][hapmap]
rs1805794	0.81[CEU][hapmap]
rs1805795	0.82[CEU][hapmap]
rs1805797	0.81[CEU][hapmap]
rs1805799	0.81[CEU][hapmap]
rs1805800	0.82[CEU][hapmap]
rs1805818	0.81[CEU][hapmap]
rs1805844	0.82[CEU][hapmap]
rs1805865	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1805870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1805877	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1881467	0.85[JPT][hapmap]
rs1881468	0.85[JPT][hapmap]
rs2021881	0.85[JPT][hapmap]
rs2021882	0.85[JPT][hapmap]
rs2073635	0.81[CEU][hapmap]
rs2074596	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2091887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2091888	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2107465	0.90[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2142093	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs2142094	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs2142097	0.85[JPT][hapmap]
rs2234744	0.81[CEU][hapmap]
rs2246022	0.85[JPT][hapmap]
rs2267543	0.90[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2280780	0.82[CEU][hapmap]
rs2308962	0.81[CEU][hapmap]
rs2339025	0.82[CEU][hapmap]
rs2697676	0.85[JPT][hapmap]
rs2735383	0.85[JPT][hapmap]
rs2735384	0.90[JPT][hapmap]
rs2735385	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs2735386	0.85[JPT][hapmap]
rs2735387	0.80[JPT][hapmap]
rs2735388	0.80[JPT][hapmap]
rs3736639	0.82[CEU][hapmap]
rs4960982	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4961166	0.85[CEU][hapmap]
rs6470523	0.82[CEU][hapmap]
rs6470524	0.82[CEU][hapmap]
rs6470668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6470671	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6470713	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6987873	0.82[CEU][hapmap]
rs6988013	0.95[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6990969	0.81[CEU][hapmap]
rs6991811	0.82[CEU][hapmap]
rs6993054	0.82[CEU][hapmap]
rs6994202	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6999227	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs7006322	0.82[CEU][hapmap]
rs7011299	0.82[CEU][hapmap]
rs7012846	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7018118	0.82[CEU][hapmap]
rs71528739	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72671845	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs741777	0.82[CEU][hapmap]
rs741778	0.90[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs7459577	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7459846	0.90[CEU][hapmap]
rs7460025	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7461859	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7463278	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7463923	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7815279	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7816839	0.90[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7821408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7829246	0.81[CEU][hapmap]
rs926092	0.81[CEU][hapmap]
rs9297784	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9649958	0.90[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs9650096	0.84[ASN][1000 genomes]
rs9774207	0.82[EUR][1000 genomes]
rs9792335	0.81[CEU][hapmap]
rs9995	0.85[JPT][hapmap]

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	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
2	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12679577	NBN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91049800-91067200	Weak transcription	Osteobl	bone
2	chr8:91052400-91067200	Weak transcription	Brain Substantia Nigra	brain
3	chr8:91052400-91069200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:91055600-91074600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:91055800-91067200	Weak transcription	NHDF-Ad	bronchial
6	chr8:91055800-91068000	Weak transcription	HSMM	muscle
7	chr8:91057800-91093600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:91058000-91067200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:91058000-91071400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:91058000-91085800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:91058200-91067400	Weak transcription	Fetal Kidney	kidney
12	chr8:91058200-91080200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:91058400-91067600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:91058400-91067600	Weak transcription	Aorta	Aorta
15	chr8:91058400-91068200	Weak transcription	Lung	lung
16	chr8:91058400-91069000	Weak transcription	Placenta	Placenta
17	chr8:91058600-91067200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:91058600-91067600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr8:91058600-91067600	Weak transcription	Fetal Intestine Small	intestine
20	chr8:91058600-91069000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr8:91058600-91069000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr8:91058600-91069600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:91058600-91069800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr8:91058600-91070200	Weak transcription	Colon Smooth Muscle	Colon
25	chr8:91058600-91070400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:91058600-91070400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr8:91058600-91070800	Weak transcription	HSMMtube	muscle
28	chr8:91058600-91078000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:91058800-91069000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr8:91059000-91067400	Weak transcription	Spleen	Spleen
31	chr8:91059000-91067600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr8:91059000-91069000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:91059000-91071000	Weak transcription	Primary T cells from cord blood	blood
34	chr8:91059000-91074400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:91059000-91084800	Weak transcription	Brain Anterior Caudate	brain
36	chr8:91059400-91069800	Weak transcription	Fetal Muscle Leg	muscle
37	chr8:91061400-91071000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr8:91063000-91067600	Strong transcription	Liver	Liver
39	chr8:91063400-91068200	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr8:91063400-91068600	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr8:91063600-91068400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:91063600-91068800	Strong transcription	Adipose Nuclei	Adipose
43	chr8:91064000-91068400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:91064000-91068800	Strong transcription	Primary B cells from cord blood	blood
45	chr8:91065400-91069000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr8:91065400-91069200	Weak transcription	NH-A	brain
47	chr8:91065600-91067200	Weak transcription	Small Intestine	intestine
48	chr8:91065600-91068800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr8:91065600-91070000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:91065600-91070200	Weak transcription	Fetal Brain Male	brain

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