Variant report

Variant	rs740649
Chromosome Location	chr17:15149905-15149906
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15149897..15152221-chr17:15153886..15156652,2	K562	blood:

Variant related genes	Relation type
ENSG00000265110	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs13027	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16951239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2215236	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3744333	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3785646	0.83[CHD][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes]
rs3785653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3785654	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3826362	0.83[CHD][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes]
rs59723054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6502439	0.91[EUR][1000 genomes]
rs7215851	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7221491	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72812936	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72812942	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72812947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73977960	0.94[EUR][1000 genomes]
rs73977961	0.94[EUR][1000 genomes]
rs9889622	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9899379	0.85[EUR][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	nsv1066329	chr17:14983674-15294071	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543212	chr17:14983674-15294071	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15132200-15158800	Weak transcription	Hela-S3	cervix
2	chr17:15134400-15151000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr17:15135800-15151200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr17:15135800-15160200	Weak transcription	Pancreas	Pancrea
5	chr17:15137000-15151200	Weak transcription	Fetal Intestine Small	intestine
6	chr17:15137200-15158000	Weak transcription	Stomach Mucosa	stomach
7	chr17:15139000-15152800	Weak transcription	Colonic Mucosa	Colon
8	chr17:15139800-15151200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr17:15139800-15160200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr17:15140200-15151000	Weak transcription	HMEC	breast
11	chr17:15142600-15154000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr17:15142600-15159000	Weak transcription	Fetal Kidney	kidney
13	chr17:15142600-15159000	Weak transcription	NH-A	brain
14	chr17:15142800-15159200	Weak transcription	Fetal Brain Male	brain
15	chr17:15143000-15150800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr17:15143000-15150800	Weak transcription	NHLF	lung
17	chr17:15143000-15151000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr17:15143000-15151200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr17:15143000-15151200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr17:15143000-15151200	Weak transcription	Osteobl	bone
21	chr17:15143000-15151400	Weak transcription	HUVEC	blood vessel
22	chr17:15143000-15152400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr17:15143000-15152400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr17:15143000-15154000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr17:15143000-15156800	Weak transcription	Gastric	stomach
26	chr17:15143200-15151000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr17:15143200-15151000	Weak transcription	Fetal Intestine Large	intestine
28	chr17:15144000-15150600	Weak transcription	Placenta	Placenta
29	chr17:15144200-15152600	Weak transcription	Lung	lung
30	chr17:15144400-15150800	Weak transcription	HSMMtube	muscle
31	chr17:15146800-15160400	Strong transcription	A549	lung
32	chr17:15147200-15151200	Enhancers	Fetal Heart	heart
33	chr17:15147400-15150200	Strong transcription	Fetal Lung	lung
34	chr17:15147400-15150400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr17:15147400-15150600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr17:15147400-15153400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr17:15148000-15150000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr17:15148000-15150000	Enhancers	Brain Cingulate Gyrus	brain
39	chr17:15148000-15150000	Genic enhancers	Colon Smooth Muscle	Colon
40	chr17:15148000-15150200	Genic enhancers	Adipose Nuclei	Adipose
41	chr17:15148000-15153200	Genic enhancers	Fetal Muscle Leg	muscle
42	chr17:15148000-15159000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr17:15148200-15150000	Enhancers	Brain Substantia Nigra	brain
44	chr17:15148200-15159000	Strong transcription	Fetal Muscle Trunk	muscle
45	chr17:15148200-15160400	Strong transcription	Fetal Stomach	stomach
46	chr17:15148400-15150000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr17:15148400-15150800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr17:15148400-15151000	Genic enhancers	NHDF-Ad	bronchial
49	chr17:15148400-15158000	Genic enhancers	Left Ventricle	heart
50	chr17:15148600-15150600	Weak transcription	HepG2	liver

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