Variant report

Variant	rs2513912
Chromosome Location	chr8:103821488-103821489
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:38)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103674710..103676295-chr8:103820852..103822638,2	MCF-7	breast:
2	chr8:103592013..103594944-chr8:103820236..103822716,2	MCF-7	breast:
3	chr8:103241583..103244347-chr8:103821474..103823149,2	K562	blood:
4	chr16:78495514..78497334-chr8:103819724..103822286,2	MCF-7	breast:
5	chr8:103758707..103761141-chr8:103820912..103822776,2	MCF-7	breast:
6	chr8:103819401..103822063-chr8:103831348..103833645,2	MCF-7	breast:
7	chr8:103817439..103824960-chr8:103872390..103877790,15	MCF-7	breast:
8	chr8:103638288..103640009-chr8:103821096..103823943,2	MCF-7	breast:
9	chr8:103606714..103608840-chr8:103819569..103821796,2	K562	blood:
10	chr8:103672018..103673821-chr8:103819669..103822518,2	K562	blood:
11	chr8:103421399..103423830-chr8:103819502..103822467,3	K562	blood:
12	chr8:103728869..103730949-chr8:103820340..103823063,2	MCF-7	breast:
13	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
14	chr8:103306340..103308594-chr8:103820369..103822986,2	MCF-7	breast:
15	chr8:103446967..103449088-chr8:103820705..103822908,2	MCF-7	breast:
16	chr8:103740249..103747213-chr8:103818698..103822838,8	MCF-7	breast:
17	chr8:103696488..103698955-chr8:103820136..103822762,2	MCF-7	breast:
18	chr8:103659827..103671648-chr8:103816894..103829599,93	K562	blood:
19	chr8:103420136..103427906-chr8:103815410..103825210,22	MCF-7	breast:
20	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
21	chr8:103441212..103444184-chr8:103820683..103822944,2	MCF-7	breast:
22	chr8:103643403..103646605-chr8:103821191..103823533,3	MCF-7	breast:
23	chr8:103250357..103253420-chr8:103818570..103821747,5	MCF-7	breast:
24	chr8:103713778..103716086-chr8:103819862..103822357,3	MCF-7	breast:
25	chr8:103672172..103673821-chr8:103821018..103822916,2	K562	blood:
26	chr8:103816389..103823057-chr8:103875264..103878654,9	K562	blood:
27	chr8:103817889..103824823-chr8:103872385..103879164,18	MCF-7	breast:
28	chr8:103768653..103771082-chr8:103821061..103822803,2	K562	blood:
29	chr1:37938067..37940901-chr8:103817766..103821632,3	MCF-7	breast:
30	chr8:103520610..103522494-chr8:103820924..103823364,2	MCF-7	breast:
31	chr8:103626178..103629397-chr8:103820874..103826100,7	MCF-7	breast:
32	chr8:103740987..103747065-chr8:103820578..103824576,6	K562	blood:
33	chr8:103692803..103694427-chr8:103820243..103822323,2	MCF-7	breast:
34	chr8:103634893..103636918-chr8:103821409..103822917,2	MCF-7	breast:
35	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
36	chr8:103623532..103635312-chr8:103817499..103824242,24	MCF-7	breast:
37	chr8:102503544..102506939-chr8:103817000..103821587,6	MCF-7	breast:
38	chr8:103705965..103707674-chr8:103821217..103823842,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KB-1507C5.2.1-3	chr8:103821162-103821967	XLOC_006894
2	lnc-KB-1507C5.2.1-3	chr8:103821162-103821794	ENSG00000253669

No data

Variant related genes	Relation type
ENSG00000253320	Chromatin interaction
ENSG00000083307	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000233621	Chromatin interaction
ENSG00000266799	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000163874	Chromatin interaction
ENSG00000048392	Chromatin interaction
ENSG00000253382	Chromatin interaction
ENSG00000254024	Chromatin interaction
ENSG00000246263	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1019976	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1062048	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10955293	0.89[ASW][hapmap]
rs10955294	0.87[YRI][hapmap]
rs17776569	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs1802539	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[ASN][1000 genomes]
rs1897787	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1982111	0.86[ASN][1000 genomes]
rs1991928	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.87[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2247355	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[ASN][1000 genomes]
rs2436849	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2436850	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2436851	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2436854	0.91[CEU][hapmap];0.91[GIH][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes]
rs2436856	1.00[CHB][hapmap];0.92[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2436861	0.93[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2513876	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2513911	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2513915	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2513917	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2513920	1.00[ASW][hapmap];0.95[CEU][hapmap];0.93[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2513923	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2513936	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2570941	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2570945	0.86[ASN][1000 genomes]
rs2570951	0.86[ASN][1000 genomes]
rs2570952	0.83[ASN][1000 genomes]
rs2679736	0.86[ASN][1000 genomes]
rs2679737	0.86[ASN][1000 genomes]
rs2679740	0.86[ASN][1000 genomes]
rs2679745	1.00[CHB][hapmap];0.92[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[ASN][1000 genomes]
rs2679747	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2679750	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2679753	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2916559	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3018943	0.86[ASN][1000 genomes]
rs3018954	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34352733	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs565720	0.88[CHB][hapmap];0.81[CHD][hapmap]
rs581610	0.87[CHB][hapmap];0.89[CHD][hapmap];0.80[GIH][hapmap];0.92[JPT][hapmap]
rs601088	0.94[CHB][hapmap];0.89[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs974758	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][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	esv1814245	chr8:103735804-103824566	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2513912	KB-1732A1.1	cis	Adipose Subcutaneous	GTEx
rs2513912	AZIN1	cis	multi-tissue	Pritchard

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103816800-103822400	Enhancers	Spleen	Spleen
2	chr8:103817200-103822800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:103818600-103822200	Enhancers	HUVEC	blood vessel
4	chr8:103819200-103821600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr8:103819200-103821800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr8:103819200-103821800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:103819200-103821800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr8:103819200-103822800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr8:103819400-103821800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr8:103819400-103821800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
11	chr8:103819400-103822600	Flanking Active TSS	A549	lung
12	chr8:103819400-103822600	Flanking Active TSS	Hela-S3	cervix
13	chr8:103819400-103822800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr8:103819600-103821600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:103819600-103821800	Enhancers	Psoas Muscle	Psoas
16	chr8:103819600-103822200	Enhancers	Primary hematopoietic stem cells	blood
17	chr8:103819600-103822400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:103819600-103822400	Enhancers	Left Ventricle	heart
19	chr8:103819600-103822600	Weak transcription	Ovary	ovary
20	chr8:103819800-103821600	Enhancers	Placenta	Placenta
21	chr8:103819800-103821800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:103819800-103821800	Enhancers	Right Ventricle	heart
23	chr8:103819800-103822000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr8:103819800-103822200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
25	chr8:103819800-103822200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:103819800-103822200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:103819800-103822200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:103819800-103822400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:103819800-103822400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr8:103819800-103822400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:103819800-103822400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:103819800-103822400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr8:103819800-103822400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:103819800-103822400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr8:103819800-103822400	Enhancers	Fetal Stomach	stomach
36	chr8:103819800-103822400	Enhancers	Fetal Thymus	thymus
37	chr8:103819800-103822400	Enhancers	Pancreas	Pancrea
38	chr8:103819800-103822400	Enhancers	Right Atrium	heart
39	chr8:103819800-103823000	Enhancers	Fetal Heart	heart
40	chr8:103819800-103823400	Enhancers	Stomach Mucosa	stomach
41	chr8:103819800-103823800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr8:103820000-103821800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr8:103820000-103821800	Enhancers	Thymus	Thymus
44	chr8:103820000-103822000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:103820000-103822200	Enhancers	Primary B cells from cord blood	blood
46	chr8:103820000-103822200	Enhancers	K562	blood
47	chr8:103820000-103822400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:103820000-103822400	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr8:103820000-103822400	Enhancers	Primary B cells from peripheral blood	blood
50	chr8:103820000-103822400	Enhancers	Primary T cells from cord blood	blood

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