Variant report

Variant	rs927732
Chromosome Location	chr13:30498308-30498309
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:30498204..30500565-chr13:30503827..30506540,2	MCF-7	breast:
2	chr13:30498097..30498956-chr13:30679446..30680175,2	MCF-7	breast:
3	chr13:30480230..30482244-chr13:30496884..30498942,2	MCF-7	breast:
4	chr13:30418186..30420449-chr13:30497353..30498942,2	MCF-7	breast:
5	chr13:30496337..30498664-chr6:26123575..26125211,2	MCF-7	breast:
6	chr13:30498030..30500017-chr13:30505243..30508039,2	K562	blood:
7	chr13:30482306..30489173-chr13:30491895..30500288,16	MCF-7	breast:
8	chr13:30410273..30412330-chr13:30496949..30498652,2	MCF-7	breast:
9	chr13:30474561..30476361-chr13:30497151..30499609,2	MCF-7	breast:
10	chr13:30492675..30494704-chr13:30496918..30499167,3	MCF-7	breast:
11	chr13:30498140..30499691-chr13:30608886..30611160,2	MCF-7	breast:
12	chr13:30420595..30432624-chr13:30489594..30503683,39	MCF-7	breast:
13	chr13:30414305..30417482-chr13:30498003..30500774,5	MCF-7	breast:
14	chr13:30391873..30393700-chr13:30497127..30499566,2	MCF-7	breast:
15	chr13:30419316..30420699-chr13:30498135..30498967,5	MCF-7	breast:
16	chr13:30487024..30489829-chr13:30495820..30498491,2	K562	blood:
17	chr13:30420962..30426189-chr13:30489163..30500098,34	MCF-7	breast:
18	chr13:30494996..30500904-chr13:30681667..30688775,12	MCF-7	breast:
19	chr13:30424498..30425006-chr13:30498151..30498709,2	MCF-7	breast:
20	chr13:30497791..30500360-chr13:30674614..30679278,4	MCF-7	breast:
21	chr13:30475291..30479868-chr13:30496674..30499474,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000180573	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000122042	Chromatin interaction
ENSG00000224511	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1093631	0.92[CHB][hapmap];0.88[JPT][hapmap];0.96[ASN][1000 genomes]
rs1325368	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17631642	0.84[CHB][hapmap];0.85[JPT][hapmap];0.98[ASN][1000 genomes]
rs17688104	0.90[CHB][hapmap];0.86[JPT][hapmap];0.98[ASN][1000 genomes]
rs2039948	0.84[CEU][hapmap]
rs2388239	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3843677	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3843678	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4318068	0.87[ASN][1000 genomes]
rs4769779	0.80[CHB][hapmap];0.87[ASN][1000 genomes]
rs4769780	0.87[ASN][1000 genomes]
rs4769781	0.87[ASN][1000 genomes]
rs585668	0.87[ASN][1000 genomes]
rs73157197	0.83[ASN][1000 genomes]
rs7319246	0.95[ASN][1000 genomes]
rs7320271	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7320355	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7320728	0.95[ASN][1000 genomes]
rs7322038	0.81[YRI][hapmap];0.80[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs74042894	1.00[ASN][1000 genomes]
rs7992473	0.92[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7994222	0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs843883	0.87[ASN][1000 genomes]
rs927731	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs927733	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs927735	0.82[CEU][hapmap]
rs9508589	0.84[CEU][hapmap]
rs9508590	0.84[CEU][hapmap];0.88[JPT][hapmap]
rs9508592	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9508594	0.88[ASN][1000 genomes]

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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30491600-30501000	Enhancers	Placenta Amnion	Placenta Amnion
2	chr13:30492400-30500600	Enhancers	HMEC	breast
3	chr13:30493600-30498600	Weak transcription	Gastric	stomach
4	chr13:30494200-30501400	Enhancers	Stomach Mucosa	stomach
5	chr13:30495600-30500400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:30496000-30500000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr13:30496000-30500200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr13:30496400-30499600	Enhancers	Pancreas	Pancrea
9	chr13:30496400-30499800	Enhancers	Right Ventricle	heart
10	chr13:30496400-30500000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr13:30496400-30500200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr13:30496400-30500200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:30496400-30500200	Enhancers	Fetal Muscle Leg	muscle
14	chr13:30496400-30500200	Enhancers	NHLF	lung
15	chr13:30496400-30500400	Enhancers	Placenta	Placenta
16	chr13:30496400-30500600	Enhancers	NHDF-Ad	bronchial
17	chr13:30496600-30499000	Flanking Active TSS	Osteobl	bone
18	chr13:30496600-30499800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr13:30496600-30500000	Enhancers	Fetal Stomach	stomach
20	chr13:30496600-30500800	Enhancers	Liver	Liver
21	chr13:30496800-30498400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr13:30496800-30499200	Enhancers	Thymus	Thymus
23	chr13:30496800-30499400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr13:30496800-30499600	Enhancers	Fetal Muscle Trunk	muscle
25	chr13:30496800-30499600	Enhancers	Left Ventricle	heart
26	chr13:30496800-30500200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr13:30496800-30500400	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr13:30496800-30500800	Enhancers	Brain Hippocampus Middle	brain
29	chr13:30496800-30501000	Enhancers	Fetal Intestine Small	intestine
30	chr13:30497000-30498600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr13:30497000-30498800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr13:30497000-30498800	Enhancers	Adipose Nuclei	Adipose
33	chr13:30497000-30500000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr13:30497000-30500000	Enhancers	Fetal Intestine Large	intestine
35	chr13:30497000-30500000	Enhancers	Fetal Thymus	thymus
36	chr13:30497000-30500000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr13:30497000-30500800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr13:30497000-30501000	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr13:30497200-30498400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr13:30497200-30498400	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr13:30497200-30498400	Enhancers	Fetal Kidney	kidney
42	chr13:30497200-30498800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
43	chr13:30497200-30499000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr13:30497200-30500000	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr13:30497200-30500600	Enhancers	Primary T cells from cord blood	blood
46	chr13:30497200-30500600	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr13:30497200-30500800	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr13:30497200-30500800	Enhancers	Fetal Lung	lung
49	chr13:30497400-30498400	Weak transcription	Lung	lung
50	chr13:30497400-30498800	Flanking Active TSS	Hela-S3	cervix

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