Variant report

Variant	rs2679748
Chromosome Location	chr8:103858308-103858309
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103845693..103863418-chr8:103873617..103879329,26	MCF-7	breast:
2	chr8:103855582..103858894-chr8:103873911..103878039,4	MCF-7	breast:
3	chr8:103850335..103852299-chr8:103857493..103859189,2	K562	blood:

Variant related genes	Relation type
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10104704	0.89[ASN][1000 genomes]
rs10808382	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1434235	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1714399	0.89[ASN][1000 genomes]
rs1806299	0.96[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1961102	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs1991927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2117313	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2164061	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2256440	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2304346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2436844	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2436846	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2436847	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2436848	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2436857	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2436865	0.93[EUR][1000 genomes]
rs2513898	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2513910	0.92[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2513913	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2513916	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2513918	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2513919	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2513921	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2513922	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2513935	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2570939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2570940	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2570942	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2570944	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2570946	0.90[ASN][1000 genomes]
rs2570948	0.92[ASN][1000 genomes]
rs2679741	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2679744	0.91[ASN][1000 genomes]
rs2679746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2679749	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2679751	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2679752	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2679754	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs2679755	0.92[EUR][1000 genomes]
rs2679756	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs2679757	0.93[CEU][hapmap];0.92[EUR][1000 genomes]
rs2679758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2679759	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2916558	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2916560	0.91[ASN][1000 genomes]
rs2916564	0.93[EUR][1000 genomes]
rs3018956	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34655485	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs491770	0.89[ASN][1000 genomes]
rs492770	0.89[ASN][1000 genomes]
rs551241	0.89[ASN][1000 genomes]
rs599777	0.96[CHB][hapmap];0.81[JPT][hapmap]
rs601588	0.96[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs606335	0.88[ASN][1000 genomes]
rs608236	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs613049	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs613559	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs644299	0.96[CHB][hapmap];0.86[JPT][hapmap]
rs647313	0.89[ASN][1000 genomes]
rs667927	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6921	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7833202	0.96[CHB][hapmap];1.00[JPT][hapmap]
rs892484	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs892485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs892486	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs972142	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs974759	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv891245	chr8:103838004-103907253	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2679748	AZIN1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103823400-103870600	Weak transcription	Stomach Mucosa	stomach
2	chr8:103826800-103871200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:103833000-103858600	Strong transcription	A549	lung
4	chr8:103833400-103870800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:103834600-103867800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr8:103834600-103871200	Strong transcription	K562	blood
7	chr8:103835000-103868000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:103835000-103871000	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:103835200-103870200	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr8:103835200-103874200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:103835600-103867800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr8:103835800-103861800	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:103835800-103871000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr8:103836000-103867800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:103836000-103871000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:103836200-103868000	Strong transcription	HMEC	breast
17	chr8:103836200-103873000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:103836600-103870600	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr8:103837400-103866400	Strong transcription	NHEK	skin
20	chr8:103837600-103867000	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr8:103837600-103870400	Strong transcription	Dnd41	blood
22	chr8:103839200-103870800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:103841000-103870200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr8:103843200-103868200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr8:103843400-103868000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:103845200-103866200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:103845600-103868600	Strong transcription	GM12878-XiMat	blood
28	chr8:103847400-103865600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr8:103848800-103860000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr8:103848800-103869000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:103848800-103870600	Weak transcription	Fetal Heart	heart
32	chr8:103851600-103860000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr8:103851600-103861800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:103852000-103868800	Weak transcription	Psoas Muscle	Psoas
35	chr8:103853400-103859600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr8:103853800-103859800	Weak transcription	HUVEC	blood vessel
37	chr8:103853800-103860000	Weak transcription	Fetal Kidney	kidney
38	chr8:103853800-103860200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr8:103853800-103868000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr8:103855000-103860000	Weak transcription	Brain Anterior Caudate	brain
41	chr8:103855200-103859800	Weak transcription	Brain Hippocampus Middle	brain
42	chr8:103855200-103870200	Weak transcription	Gastric	stomach
43	chr8:103855400-103860800	Weak transcription	Spleen	Spleen
44	chr8:103855400-103866200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:103855400-103870800	Strong transcription	HSMM	muscle
46	chr8:103855600-103859800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr8:103855600-103859800	Weak transcription	Fetal Intestine Small	intestine
48	chr8:103855600-103859800	Weak transcription	Pancreas	Pancrea
49	chr8:103855600-103860000	Weak transcription	Fetal Brain Female	brain
50	chr8:103855600-103860200	Weak transcription	Esophagus	oesophagus

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