Variant report

Variant	rs73417944
Chromosome Location	chr6:1870459-1870460
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs56088586	1.00[AMR][1000 genomes]
rs56284044	1.00[AMR][1000 genomes]
rs56347469	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56403345	1.00[AMR][1000 genomes]
rs56808713	1.00[AMR][1000 genomes]
rs56955166	1.00[AMR][1000 genomes]
rs57499788	1.00[AMR][1000 genomes]
rs57708249	1.00[AMR][1000 genomes]
rs58632404	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59618379	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60523161	1.00[AMR][1000 genomes]
rs61355927	1.00[AMR][1000 genomes]
rs61635847	1.00[AMR][1000 genomes]
rs73410433	1.00[AMR][1000 genomes]
rs73412537	1.00[AMR][1000 genomes]
rs73412572	1.00[AMR][1000 genomes]
rs73412576	1.00[AMR][1000 genomes]
rs73417921	1.00[AMR][1000 genomes]
rs73417934	0.92[AFR][1000 genomes]
rs73417937	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73425506	1.00[AMR][1000 genomes]
rs73425523	1.00[AMR][1000 genomes]
rs73425536	1.00[AMR][1000 genomes]
rs73425551	1.00[AMR][1000 genomes]
rs73425558	1.00[AMR][1000 genomes]
rs73425566	1.00[AMR][1000 genomes]
rs73425572	1.00[AMR][1000 genomes]
rs73425577	1.00[AMR][1000 genomes]
rs73425600	1.00[AMR][1000 genomes]
rs73427359	1.00[AMR][1000 genomes]
rs73427404	1.00[AMR][1000 genomes]
rs73718508	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7774602	1.00[AMR][1000 genomes]
rs7774932	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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1842800-1872400	Weak transcription	Gastric	stomach
2	chr6:1851200-1895600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr6:1851400-1872200	Weak transcription	Pancreas	Pancrea
4	chr6:1851400-1909600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:1857600-1877200	Weak transcription	Primary T cells from cord blood	blood
6	chr6:1865200-1884600	Weak transcription	Small Intestine	intestine
7	chr6:1865400-1870600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:1865400-1871000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:1865800-1872200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:1866400-1870600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:1866400-1871600	Weak transcription	Brain Hippocampus Middle	brain
12	chr6:1866600-1870600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:1866600-1872000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:1866800-1871200	Weak transcription	Fetal Kidney	kidney
15	chr6:1867000-1872000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:1867000-1873800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:1867200-1871800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr6:1867200-1872200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:1868000-1873600	Weak transcription	Stomach Mucosa	stomach
20	chr6:1868600-1870800	Enhancers	Primary B cells from peripheral blood	blood
21	chr6:1869200-1871400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:1869200-1872400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:1869200-1874000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr6:1869200-1874200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr6:1869200-1874200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr6:1869400-1871400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr6:1869400-1873400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr6:1869400-1873800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr6:1869400-1873800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr6:1869400-1874200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr6:1869400-1874400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr6:1869600-1871400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:1869600-1871600	Bivalent Enhancer	Fetal Muscle Leg	muscle
34	chr6:1869600-1873800	Enhancers	H9 Cell Line	embryonic stem cell
35	chr6:1869800-1870800	Enhancers	GM12878-XiMat	blood
36	chr6:1870000-1870600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr6:1870000-1870800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:1870000-1870800	Enhancers	Aorta	Aorta
39	chr6:1870000-1870800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr6:1870000-1871200	Strong transcription	HepG2	liver
41	chr6:1870200-1871400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:1870400-1870800	Enhancers	HSMMtube	muscle
43	chr6:1870400-1872200	Weak transcription	Brain Anterior Caudate	brain
44	chr6:1870400-1872200	Weak transcription	Ovary	ovary

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