Variant report

Variant	rs17134424
Chromosome Location	chr6:1873476-1873477
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11963926	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11967089	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11968685	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11969147	1.00[AFR][1000 genomes]
rs11969398	0.85[AFR][1000 genomes]
rs11970588	0.81[AFR][1000 genomes]
rs17134367	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17134387	0.81[AFR][1000 genomes]
rs17134428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6920017	1.00[AMR][1000 genomes]
rs6937272	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6941217	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73425374	1.00[AMR][1000 genomes]
rs73427306	1.00[AMR][1000 genomes]
rs7747565	1.00[AMR][1000 genomes]
rs7758701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7773710	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv491607	chr6:1580681-1951526	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1020603	chr6:1697548-1921374	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv538093	chr6:1697548-1921374	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv869043	chr6:1744238-2006788	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv538094	chr6:1757776-1907505	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv931941	chr6:1768439-2246781	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv531295	chr6:1773436-2724986	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
9	nsv883383	chr6:1775436-1918572	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv883384	chr6:1787862-1942538	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1019895	chr6:1832936-1882435	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1032149	chr6:1848148-2006021	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv883385	chr6:1869592-1915828	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1851200-1895600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr6:1851400-1909600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr6:1857600-1877200	Weak transcription	Primary T cells from cord blood	blood
4	chr6:1865200-1884600	Weak transcription	Small Intestine	intestine
5	chr6:1867000-1873800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:1868000-1873600	Weak transcription	Stomach Mucosa	stomach
7	chr6:1869200-1874000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr6:1869200-1874200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr6:1869200-1874200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr6:1869400-1873800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:1869400-1873800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:1869400-1874200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr6:1869400-1874400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr6:1869600-1873800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr6:1870600-1873600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:1870600-1874000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:1870600-1874200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:1870800-1874200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:1871000-1874200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:1871000-1895400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:1871200-1873800	Weak transcription	HepG2	liver
22	chr6:1871200-1874200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:1871200-1874200	Enhancers	Fetal Kidney	kidney
24	chr6:1871400-1876600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:1871600-1874400	Enhancers	Fetal Muscle Leg	muscle
26	chr6:1871800-1874000	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr6:1872000-1873600	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr6:1872000-1874200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:1872000-1874400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:1872000-1874400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:1872000-1874400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr6:1872200-1873600	Enhancers	Adipose Nuclei	Adipose
33	chr6:1872200-1873600	Enhancers	Fetal Muscle Trunk	muscle
34	chr6:1872200-1873800	Enhancers	NHLF	lung
35	chr6:1872200-1874000	Enhancers	Brain Anterior Caudate	brain
36	chr6:1872200-1874400	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr6:1872200-1874600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:1872400-1874400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr6:1872600-1873600	Enhancers	Fetal Intestine Small	intestine
40	chr6:1872600-1873600	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr6:1872600-1873800	Enhancers	Aorta	Aorta
42	chr6:1872600-1874000	Enhancers	Brain Cingulate Gyrus	brain
43	chr6:1872600-1874400	Enhancers	Ovary	ovary
44	chr6:1872600-1874400	Enhancers	HSMM	muscle
45	chr6:1872600-1885800	Weak transcription	Gastric	stomach
46	chr6:1872800-1873600	Bivalent Enhancer	Fetal Brain Male	brain
47	chr6:1872800-1873800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:1872800-1873800	Enhancers	Brain Hippocampus Middle	brain
49	chr6:1872800-1874200	Bivalent Enhancer	Fetal Heart	heart
50	chr6:1872800-1874400	Enhancers	Pancreas	Pancrea

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