Variant report

Variant	rs80190992
Chromosome Location	chr6:53927147-53927148
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1067663	chr6:53796341-54449718	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv529158	chr6:53796341-54449718	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2758055	chr6:53839373-53996093	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv2759431	chr6:53839373-54007349	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv5307	chr6:53874118-53952230	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv603110	chr6:53885918-54103794	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1027036	chr6:53912335-53931843	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
9	nsv7901	chr6:53914491-53981080	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv823691	chr6:53918427-53978766	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv1825401	chr6:53920024-53934260	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
12	nsv885885	chr6:53920024-54046264	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1030908	chr6:53920595-53931843	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
14	esv3473991	chr6:53924671-53934931	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
15	nsv1025090	chr6:53924697-53936000	Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
16	nsv436993	chr6:53924697-53937823	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
17	nsv436994	chr6:53924697-53937823	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
18	esv34853	chr6:53924697-53977449	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	esv3491455	chr6:53924708-53934936	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
20	esv3427373	chr6:53924712-53934924	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
21	esv5367	chr6:53924718-53934901	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
22	esv3473993	chr6:53924727-53934903	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
23	esv3473990	chr6:53924731-53934901	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
24	esv3491457	chr6:53924745-53934878	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
25	esv3491456	chr6:53924747-53934875	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
26	esv3473992	chr6:53924789-53934834	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
27	esv3491454	chr6:53924800-53934833	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
28	esv3473994	chr6:53924804-53934831	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
29	esv3491458	chr6:53924804-53934831	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
30	esv1792864	chr6:53925057-53931843	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	inside rSNPs	n/a
31	nsv508407	chr6:53925532-53930642	Active TSS Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	inside rSNPs	n/a
32	esv1809821	chr6:53926697-53935347	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
33	esv3471826	chr6:53926793-53936791	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
34	nsv603111	chr6:53926867-53932172	Weak transcription Active TSS Flanking Active TSS Enhancers	lncRNA	n/a	inside rSNPs	n/a
35	esv1803567	chr6:53926867-53934260	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
36	esv1823586	chr6:53926867-53934260	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
37	esv1840711	chr6:53926867-53934260	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
38	esv1826864	chr6:53926867-53934556	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
39	esv1836162	chr6:53926867-53934556	Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53919400-53928200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr6:53919600-53928200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:53919600-53928400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr6:53919600-53928400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr6:53921600-53936600	Weak transcription	Right Ventricle	heart
6	chr6:53922200-53928000	Weak transcription	Adipose Nuclei	Adipose
7	chr6:53923800-53927600	Enhancers	Fetal Heart	heart
8	chr6:53924000-53935200	Weak transcription	Psoas Muscle	Psoas
9	chr6:53924800-53927200	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr6:53925400-53928200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:53925400-53928200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr6:53925400-53928200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr6:53925400-53928400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:53925400-53928400	Weak transcription	Fetal Lung	lung
15	chr6:53925400-53928400	Weak transcription	Right Atrium	heart
16	chr6:53925600-53928200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:53925800-53927200	Enhancers	Liver	Liver
18	chr6:53925800-53928200	Weak transcription	Osteobl	bone
19	chr6:53926200-53927600	Weak transcription	Left Ventricle	heart
20	chr6:53926200-53928200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:53926400-53927200	Weak transcription	Stomach Mucosa	stomach
22	chr6:53926400-53928200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr6:53926400-53934800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr6:53926600-53928200	Weak transcription	Colon Smooth Muscle	Colon

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