Variant report

Variant	rs3799321
Chromosome Location	chr6:1392052-1392053
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10214804	1.00[EUR][1000 genomes]
rs10214831	1.00[EUR][1000 genomes]
rs57403062	1.00[EUR][1000 genomes]
rs7746187	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024111	chr6:1231850-1730146	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv883369	chr6:1244837-1416849	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1017614	chr6:1248650-1423502	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1021924	chr6:1254891-1736995	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv538082	chr6:1254891-1736995	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv1015744	chr6:1307337-1395551	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1027053	chr6:1307337-1397924	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv1031351	chr6:1313404-1395551	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1028654	chr6:1313404-1397924	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv1022280	chr6:1313404-1406015	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv538087	chr6:1313404-1406015	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv883370	chr6:1349828-1426790	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv917248	chr6:1365437-1627813	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
14	nsv883371	chr6:1374277-1416849	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
15	nsv883372	chr6:1374277-1426790	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
16	esv3375080	chr6:1389978-1392526	Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1387800-1392800	Active TSS	Colon Smooth Muscle	Colon
2	chr6:1388000-1395200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
3	chr6:1388200-1394400	Bivalent/Poised TSS	Fetal Lung	lung
4	chr6:1388600-1393000	Active TSS	NHDF-Ad	bronchial
5	chr6:1389000-1392600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:1389600-1392800	Active TSS	Hela-S3	cervix
7	chr6:1390000-1393000	Bivalent/Poised TSS	NH-A	brain
8	chr6:1390000-1394400	Bivalent/Poised TSS	Small Intestine	intestine
9	chr6:1390200-1392400	Active TSS	A549	lung
10	chr6:1390200-1392800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:1390400-1392400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:1390400-1392800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:1390400-1393600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
14	chr6:1390400-1394200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
15	chr6:1390400-1395600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
16	chr6:1390400-1396600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
17	chr6:1390400-1396800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
18	chr6:1390400-1396800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
19	chr6:1390600-1392600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
20	chr6:1390600-1396600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:1390800-1392400	Bivalent/Poised TSS	Fetal Brain Female	brain
22	chr6:1390800-1392800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:1390800-1395600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
24	chr6:1391000-1393600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
25	chr6:1391200-1393000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:1391200-1394600	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
27	chr6:1391200-1395400	Bivalent/Poised TSS	Colonic Mucosa	Colon
28	chr6:1391400-1392200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
29	chr6:1391400-1392600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:1391400-1392800	Weak transcription	Pancreas	Pancrea
31	chr6:1391400-1393000	Bivalent/Poised TSS	Fetal Stomach	stomach
32	chr6:1391400-1393000	Active TSS	Gastric	stomach
33	chr6:1391400-1393200	Active TSS	Lung	lung
34	chr6:1391400-1393600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
35	chr6:1391400-1397000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:1391600-1392200	Bivalent/Poised TSS	Placenta	Placenta
37	chr6:1391600-1392400	Active TSS	NHLF	lung
38	chr6:1391600-1392600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:1391600-1393000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
40	chr6:1391600-1393800	Weak transcription	Right Atrium	heart
41	chr6:1391600-1394600	Bivalent/Poised TSS	Esophagus	oesophagus
42	chr6:1391800-1392200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:1391800-1392200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:1391800-1392200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr6:1391800-1392200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr6:1391800-1392400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
47	chr6:1391800-1393200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:1391800-1395000	Active TSS	Rectal Smooth Muscle	rectum
49	chr6:1392000-1392200	Bivalent Enhancer	Right Ventricle	heart
50	chr6:1392000-1392400	Enhancers	Osteobl	bone

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