Variant report

Variant	rs73346702
Chromosome Location	chr6:2447415-2447416
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11964241	0.87[AMR][1000 genomes]
rs28633763	0.87[AMR][1000 genomes]
rs4602753	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57908018	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59455919	0.87[AMR][1000 genomes]
rs60798809	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6901457	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6904942	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6905100	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6905118	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6909863	1.00[AMR][1000 genomes]
rs6929207	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73344778	0.87[AMR][1000 genomes]
rs73344794	0.87[AMR][1000 genomes]
rs73344796	0.87[AMR][1000 genomes]
rs73346609	0.87[AMR][1000 genomes]
rs73346610	0.87[AMR][1000 genomes]
rs73346620	0.87[AMR][1000 genomes]
rs73346662	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73346668	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73346669	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348609	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7739140	0.87[AMR][1000 genomes]
rs7744661	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv883388	chr6:2093432-2514911	Strong transcription Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
3	nsv883389	chr6:2093432-2776303	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
4	nsv1021573	chr6:2246721-2832408	Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
5	nsv538102	chr6:2246721-2832408	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
6	nsv883390	chr6:2265344-2584919	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv883391	chr6:2282747-2507448	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1016878	chr6:2375784-2680476	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv498004	chr6:2380300-3313587	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	163 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2399800-2449200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr6:2402200-2449200	Weak transcription	Left Ventricle	heart
3	chr6:2414600-2452000	Weak transcription	Ovary	ovary
4	chr6:2414800-2448800	Weak transcription	Liver	Liver
5	chr6:2414800-2449200	Weak transcription	Fetal Stomach	stomach
6	chr6:2417600-2454200	Weak transcription	Pancreas	Pancrea
7	chr6:2432200-2449200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr6:2433200-2449200	Weak transcription	Adipose Nuclei	Adipose
9	chr6:2434000-2448400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:2434400-2449200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:2435000-2449200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:2435400-2449200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr6:2438800-2449400	Weak transcription	Primary T cells from cord blood	blood
14	chr6:2440200-2449200	Weak transcription	Aorta	Aorta
15	chr6:2440400-2448400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr6:2440400-2448600	Weak transcription	Brain Anterior Caudate	brain
17	chr6:2442600-2449200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:2442800-2448200	Weak transcription	Osteobl	bone
19	chr6:2443000-2448200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:2443000-2449200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr6:2444000-2449200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:2444400-2449200	Weak transcription	Brain Hippocampus Middle	brain
23	chr6:2447000-2449200	Enhancers	Fetal Intestine Small	intestine
24	chr6:2447200-2447600	Flanking Active TSS	Fetal Kidney	kidney
25	chr6:2447200-2448000	Flanking Active TSS	HepG2	liver
26	chr6:2447400-2447600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr6:2447400-2447600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr6:2447400-2447800	Active TSS	Fetal Intestine Large	intestine
29	chr6:2447400-2447800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr6:2447400-2448000	Enhancers	Fetal Brain Male	brain

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