Variant report

Variant	rs548619203
Chromosome Location	chr12:2215272-2215273
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948480	chr12:1776217-2284333	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv898598	chr12:1939252-2215448	Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1040370	chr12:2021395-2671017	Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv948400	chr12:2022411-2601363	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv521838	chr12:2060580-2299680	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1035885	chr12:2077660-2310157	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv541350	chr12:2077660-2310157	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1038722	chr12:2085035-2308205	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv541351	chr12:2085035-2308205	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv898601	chr12:2124955-2215448	Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv826183	chr12:2147469-2257818	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv898602	chr12:2149786-2223740	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv557009	chr12:2208215-2215725	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
14	nsv557010	chr12:2208215-2216588	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
15	nsv557011	chr12:2208390-2216958	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
16	nsv898603	chr12:2208390-2268143	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv998408	chr12:2212269-2219340	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv3426014	chr12:2213966-2217239	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
19	nsv1053798	chr12:2214047-2253488	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
20	esv19310	chr12:2214329-2216674	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
21	nsv557012	chr12:2214692-2215725	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
22	nsv557013	chr12:2214692-2215841	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
23	nsv557014	chr12:2214692-2216155	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
24	nsv557015	chr12:2214692-2216195	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
25	nsv557016	chr12:2214692-2216588	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
26	nsv557017	chr12:2214692-2216958	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
27	nsv557018	chr12:2214692-2223740	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv557019	chr12:2214853-2216051	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
29	nsv557020	chr12:2214853-2216195	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
30	nsv557021	chr12:2214853-2216389	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
31	nsv557022	chr12:2214853-2216473	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
32	nsv557023	chr12:2214853-2216588	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
33	nsv557024	chr12:2214853-2216958	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
34	esv1009527	chr12:2214875-2215459	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
35	nsv557025	chr12:2214968-2216155	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
36	nsv557026	chr12:2214968-2216588	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
37	nsv557027	chr12:2214968-2216958	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
38	nsv557028	chr12:2215070-2216195	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
39	nsv557029	chr12:2215070-2216588	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
40	nsv557030	chr12:2215070-2216958	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
41	nsv53850	chr12:2215093-2215625	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
42	nsv557031	chr12:2215175-2216195	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
43	esv1150716	chr12:2215220-2215486	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2202800-2220200	Weak transcription	Fetal Brain Female	brain
2	chr12:2207200-2223000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:2208400-2226600	Weak transcription	Brain Angular Gyrus	brain
4	chr12:2208600-2217000	Weak transcription	Aorta	Aorta
5	chr12:2209000-2215400	Weak transcription	Fetal Heart	heart
6	chr12:2211200-2221000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:2211600-2217400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:2211600-2222200	Weak transcription	Spleen	Spleen
9	chr12:2211800-2217200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:2211800-2229000	Weak transcription	Osteobl	bone
11	chr12:2214400-2216800	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:2214400-2216800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:2214400-2219400	Weak transcription	Lung	lung
14	chr12:2214600-2217000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:2214600-2221000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:2214800-2216200	Weak transcription	Left Ventricle	heart
17	chr12:2214800-2217000	Weak transcription	Right Atrium	heart
18	chr12:2214800-2217200	Weak transcription	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links