Variant report

Variant	rs13385066
Chromosome Location	chr2:33615184-33615185
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:33612532..33615495-chr2:33620487..33623210,2	MCF-7	breast:
2	chr2:33608144..33609777-chr2:33613186..33615395,2	K562	blood:
3	chr2:33294444..33297437-chr2:33614780..33616990,2	K562	blood:
4	chr2:33612365..33616545-chr2:33619739..33622909,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1017677	0.81[ASW][hapmap];0.89[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap];0.81[MKK][hapmap];0.86[TSI][hapmap];0.87[YRI][hapmap];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10495787	0.95[CHB][hapmap];0.93[CHD][hapmap];0.89[JPT][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11885449	0.84[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];0.82[JPT][hapmap];0.80[TSI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11891105	0.84[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11899010	0.84[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs13009128	0.92[ASN][1000 genomes]
rs13424241	0.95[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17012911	0.89[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs17012917	0.85[CHB][hapmap]
rs17012922	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.87[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1869449	1.00[ASW][hapmap];0.80[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.81[MKK][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2015189	0.88[ASW][hapmap];0.80[CEU][hapmap];0.89[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3820909	0.93[ASN][1000 genomes]
rs58804388	0.80[ASN][1000 genomes]
rs59136259	0.88[ASN][1000 genomes]
rs59877056	0.88[ASN][1000 genomes]
rs60514603	0.89[ASN][1000 genomes]
rs6711211	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6719824	0.89[CHB][hapmap];0.93[CHD][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs7566302	0.90[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1012967	chr2:33533340-33638312	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv535627	chr2:33533340-33638312	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33588400-33624400	Weak transcription	Gastric	stomach
2	chr2:33589200-33623000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:33590600-33615800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:33590600-33624800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:33591400-33616000	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:33592000-33624800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:33597200-33622200	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:33604200-33616600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:33604200-33624800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:33604600-33623600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:33604800-33616200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:33604800-33616800	Weak transcription	Brain Anterior Caudate	brain
13	chr2:33605400-33616000	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:33607600-33616600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:33609800-33630200	Weak transcription	Fetal Heart	heart
16	chr2:33610000-33622200	Weak transcription	Left Ventricle	heart
17	chr2:33610400-33616200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:33611200-33615600	Strong transcription	Osteobl	bone
19	chr2:33611400-33616200	Weak transcription	Fetal Lung	lung
20	chr2:33612800-33621000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:33613000-33623000	Weak transcription	Right Ventricle	heart
22	chr2:33613400-33621800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:33613400-33625000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:33613400-33630600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:33613600-33615600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:33613600-33622200	Weak transcription	Ovary	ovary
27	chr2:33613600-33623000	Weak transcription	NH-A	brain
28	chr2:33613800-33615400	Strong transcription	Liver	Liver
29	chr2:33614000-33615200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr2:33614000-33615400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:33614000-33616400	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:33614200-33615200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:33614200-33615400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:33614200-33616800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:33614400-33615400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:33614400-33616200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:33614400-33623200	Weak transcription	NHLF	lung
38	chr2:33614600-33628600	Weak transcription	Aorta	Aorta
39	chr2:33615000-33615400	Enhancers	NHDF-Ad	bronchial
40	chr2:33615000-33616000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:33615000-33617800	Enhancers	Fetal Stomach	stomach

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