Variant report

Variant	rs10499860
Chromosome Location	chr7:80269085-80269086
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10499856	0.91[AMR][1000 genomes]
rs10499861	1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10499862	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1205467	0.98[ASN][1000 genomes]
rs12531218	0.93[CHD][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12531609	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12532729	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12533372	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12534733	1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12536106	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12536889	0.81[AMR][1000 genomes]
rs12540492	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13223899	0.81[AMR][1000 genomes]
rs17154125	0.91[AMR][1000 genomes]
rs17154133	0.93[CHD][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17154137	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17154170	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17154186	1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17154209	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17154213	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17154225	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1880410	0.93[CHD][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1880956	0.81[AMR][1000 genomes]
rs1969494	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1980331	0.81[AMR][1000 genomes]
rs2886753	0.81[AMR][1000 genomes]
rs3211845	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3212159	0.95[ASN][1000 genomes]
rs3212164	0.95[ASN][1000 genomes]
rs3212165	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs34076933	0.81[AMR][1000 genomes]
rs3800553	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3807090	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3823475	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57312550	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57345451	0.81[AMR][1000 genomes]
rs57886147	1.00[ASN][1000 genomes]
rs59637606	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7458684	0.81[AMR][1000 genomes]
rs867876	0.81[AMR][1000 genomes]
rs945095	0.81[AMR][1000 genomes]
rs945096	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv831043	chr7:80119414-80322092	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv948605	chr7:80119690-80298887	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1020682	chr7:80120651-80297697	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv464606	chr7:80177084-80311794	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv607682	chr7:80177084-80311794	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1025144	chr7:80197286-80271841	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1026688	chr7:80231657-80307236	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv1020745	chr7:80231657-80309495	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv888526	chr7:80240943-80354229	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
11	nsv888527	chr7:80248029-80279460	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv888528	chr7:80252518-80280117	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv888529	chr7:80252518-80295701	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1023254	chr7:80256255-80272725	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv1027411	chr7:80256255-80276756	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv1032295	chr7:80256738-80276756	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	esv2761341	chr7:80256738-80276768	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv888530	chr7:80258564-80279460	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv888531	chr7:80258564-80280117	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
20	nsv888532	chr7:80258564-80282636	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
21	nsv971195	chr7:80260254-80270989	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
22	nsv464607	chr7:80262830-80288854	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv607683	chr7:80262830-80288854	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80260400-80273400	Weak transcription	Small Intestine	intestine
2	chr7:80262400-80272600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:80263800-80270400	Weak transcription	HMEC	breast
4	chr7:80264200-80270000	Weak transcription	HSMM	muscle
5	chr7:80265400-80269200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:80265400-80269800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:80265400-80270400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:80265600-80269400	Weak transcription	Osteobl	bone
9	chr7:80266000-80271400	Active TSS	Psoas Muscle	Psoas
10	chr7:80266000-80271800	Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr7:80266200-80270800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:80266200-80272000	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr7:80266400-80271400	Active TSS	Fetal Muscle Leg	muscle
14	chr7:80266400-80271600	Weak transcription	HepG2	liver
15	chr7:80267000-80272200	Active TSS	Right Atrium	heart
16	chr7:80267400-80269800	Weak transcription	NHDF-Ad	bronchial
17	chr7:80267600-80269800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:80267600-80273200	Active TSS	Adipose Nuclei	Adipose
19	chr7:80267800-80270600	Active TSS	Primary monocytes fromperipheralblood	blood
20	chr7:80267800-80270600	Active TSS	Monocytes-CD14+_RO01746	blood
21	chr7:80267800-80272000	Weak transcription	HSMMtube	muscle
22	chr7:80268000-80269200	Weak transcription	Left Ventricle	heart
23	chr7:80268000-80269200	Weak transcription	NHLF	lung
24	chr7:80268000-80269400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:80268000-80270600	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr7:80268000-80271200	Active TSS	Placenta	Placenta
27	chr7:80268000-80272600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:80268200-80269400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr7:80268200-80270200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr7:80268200-80272200	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr7:80268400-80269400	Active TSS	Liver	Liver
32	chr7:80268400-80269600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:80268400-80269600	Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr7:80268400-80270600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:80268600-80269400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr7:80268800-80269200	ZNF genes & repeats	Fetal Heart	heart
37	chr7:80269000-80270000	Active TSS	Right Ventricle	heart

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