Variant report

Variant	rs647313
Chromosome Location	chr8:103916654-103916655
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103903842..103907470-chr8:103913570..103917002,5	MCF-7	breast:
2	chr8:103873731..103878652-chr8:103915000..103924941,17	MCF-7	breast:
3	chr8:103874072..103879942-chr8:103913926..103921009,16	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KB-1507C5.2.1-4	chr8:103916452-103916730	NONHSAT128125

Variant related genes	Relation type
ENSG00000155096	Chromatin interaction
ENSG00000253263	Chromatin interaction
ENSG00000253320	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10104704	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1055376	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1138	0.96[ASN][1000 genomes]
rs1714399	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1806299	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1961102	0.86[ASN][1000 genomes]
rs1991927	0.89[ASN][1000 genomes]
rs2117313	0.88[ASN][1000 genomes]
rs2304346	0.87[ASN][1000 genomes]
rs2570939	0.88[ASN][1000 genomes]
rs2570940	0.88[ASN][1000 genomes]
rs2570944	0.97[ASN][1000 genomes]
rs2570946	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2570947	0.97[EUR][1000 genomes]
rs2570948	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2570949	0.83[ASN][1000 genomes]
rs2570950	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2679741	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2679742	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2679744	0.97[ASN][1000 genomes]
rs2679746	0.89[ASN][1000 genomes]
rs2679748	0.89[ASN][1000 genomes]
rs2679758	0.96[ASN][1000 genomes]
rs2679759	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28594922	0.84[AFR][1000 genomes]
rs2916558	0.84[ASN][1000 genomes]
rs2916560	0.97[ASN][1000 genomes]
rs2916561	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs491770	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs492770	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs522547	0.86[ASN][1000 genomes]
rs548488	0.82[AFR][1000 genomes]
rs551241	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs567395	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs599777	0.85[ASN][1000 genomes]
rs601588	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs606335	0.99[ASN][1000 genomes]
rs608236	0.86[ASN][1000 genomes]
rs613049	0.86[ASN][1000 genomes]
rs613559	0.86[ASN][1000 genomes]
rs644299	0.86[ASN][1000 genomes]
rs657000	0.86[ASN][1000 genomes]
rs665298	0.81[AFR][1000 genomes]
rs667927	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs678839	0.81[AFR][1000 genomes]
rs6921	0.83[ASN][1000 genomes]
rs892486	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs647313	AZIN1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103879200-103922000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:103907600-103922600	Weak transcription	Brain Germinal Matrix	brain
3	chr8:103907800-103922000	Weak transcription	Fetal Brain Female	brain
4	chr8:103907800-103922600	Weak transcription	Gastric	stomach
5	chr8:103909200-103918200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:103909400-103918600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:103910800-103921400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:103911000-103919000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:103911000-103922000	Weak transcription	Aorta	Aorta
10	chr8:103911400-103918400	Weak transcription	Hela-S3	cervix
11	chr8:103911400-103922000	Weak transcription	Adipose Nuclei	Adipose
12	chr8:103911400-103922000	Weak transcription	Brain Substantia Nigra	brain
13	chr8:103911400-103922200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr8:103911400-103922200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:103911600-103921400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:103911800-103921400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr8:103911800-103922600	Weak transcription	Left Ventricle	heart
18	chr8:103911800-103922600	Weak transcription	Lung	lung
19	chr8:103912400-103922600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:103913400-103916800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:103913400-103922000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:103913400-103929800	Weak transcription	Psoas Muscle	Psoas
23	chr8:103913600-103922600	Weak transcription	Spleen	Spleen
24	chr8:103914400-103920000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr8:103915000-103917000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:103915000-103917400	Enhancers	Pancreas	Pancrea
27	chr8:103915000-103920000	Enhancers	Placenta	Placenta
28	chr8:103915600-103921400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr8:103915800-103917000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:103915800-103918200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr8:103915800-103918400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr8:103915800-103922000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:103915800-103922000	Weak transcription	Brain Hippocampus Middle	brain
34	chr8:103915800-103922400	Weak transcription	Colon Smooth Muscle	Colon
35	chr8:103915800-103922600	Weak transcription	Right Atrium	heart
36	chr8:103916000-103917200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr8:103916000-103918200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:103916000-103919400	Weak transcription	Primary T cells from cord blood	blood
39	chr8:103916000-103921200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:103916000-103922000	Weak transcription	Fetal Lung	lung
41	chr8:103916000-103922000	Weak transcription	Ovary	ovary
42	chr8:103916000-103922800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr8:103916200-103918200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr8:103916200-103918200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr8:103916200-103918200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr8:103916200-103918200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr8:103916200-103918400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr8:103916200-103918400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:103916200-103918400	Weak transcription	HSMM	muscle
50	chr8:103916200-103918600	Weak transcription	HepG2	liver

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