Variant report

Variant	rs11968518
Chromosome Location	chr6:2286438-2286439
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11967121	1.00[AMR][1000 genomes]
rs1872597	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73340799	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73340801	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73342783	1.00[AMR][1000 genomes]
rs73344705	1.00[AMR][1000 genomes]
rs73420770	1.00[AMR][1000 genomes]
rs73420780	1.00[AMR][1000 genomes]
rs9328085	1.00[AMR][1000 genomes]
rs9501825	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9501829	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9503122	1.00[AMR][1000 genomes]
rs9503124	1.00[AMR][1000 genomes]
rs9503128	1.00[AMR][1000 genomes]
rs9503131	1.00[AMR][1000 genomes]
rs9503138	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9503139	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9503143	1.00[AMR][1000 genomes]
rs9503144	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9503145	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9885669	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9885981	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
3	nsv1025814	chr6:2064629-2308518	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
4	nsv538098	chr6:2064629-2308518	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
5	nsv1030181	chr6:2071210-2308657	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
6	nsv538099	chr6:2071210-2308657	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv1022166	chr6:2199666-2320800	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv1017174	chr6:2213893-2340529	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv1033201	chr6:2218647-2308518	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
12	nsv538101	chr6:2218647-2308518	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
13	esv2763526	chr6:2230064-2311916	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
14	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
15	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
16	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
17	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

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2255800-2288600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr6:2271400-2287600	Weak transcription	Right Ventricle	heart
3	chr6:2273000-2288200	Weak transcription	Aorta	Aorta
4	chr6:2273600-2286600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr6:2273600-2286600	Weak transcription	Pancreas	Pancrea
6	chr6:2273600-2286800	Weak transcription	Colonic Mucosa	Colon
7	chr6:2273600-2288200	Weak transcription	Spleen	Spleen
8	chr6:2273800-2288800	Weak transcription	Brain Anterior Caudate	brain
9	chr6:2274600-2290000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr6:2275400-2319400	Weak transcription	Gastric	stomach
11	chr6:2275800-2288200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr6:2276400-2286600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:2276400-2287800	Weak transcription	Stomach Mucosa	stomach
14	chr6:2278200-2287000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:2281200-2289200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr6:2282600-2287400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:2283400-2286600	Weak transcription	Fetal Stomach	stomach
18	chr6:2283600-2286600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:2283600-2287800	Weak transcription	Brain Angular Gyrus	brain
20	chr6:2283800-2287600	Weak transcription	Brain Substantia Nigra	brain
21	chr6:2284200-2288800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr6:2284400-2286800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr6:2284400-2288600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr6:2284600-2287000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:2284800-2286600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr6:2285000-2286600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:2285000-2286800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:2285000-2287200	Weak transcription	Primary B cells from cord blood	blood
29	chr6:2285000-2288000	Weak transcription	Fetal Lung	lung
30	chr6:2285400-2287200	Weak transcription	Adipose Nuclei	Adipose
31	chr6:2286200-2287200	Strong transcription	Left Ventricle	heart
32	chr6:2286200-2287600	ZNF genes & repeats	Liver	Liver
33	chr6:2286400-2286600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:2286400-2287800	ZNF genes & repeats	Fetal Intestine Small	intestine

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