Variant report

Variant	rs368744501
Chromosome Location	chr2:48781813-48781814
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005954	chr2:48692696-48905723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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
2	nsv535682	chr2:48692696-48905723	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv833981	chr2:48705444-48878179	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1007491	chr2:48752185-48796441	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv535683	chr2:48752185-48796441	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv581776	chr2:48763382-48913019	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1000419	chr2:48766957-48795327	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1010494	chr2:48767055-49027310	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	esv2631205	chr2:48781242-48785811	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
11	esv3400784	chr2:48781382-48785157	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	inside rSNPs	diseases
12	esv990475	chr2:48781529-48785154	Weak transcription Enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases
13	esv2354047	chr2:48781650-48785073	Strong transcription Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
14	esv8396	chr2:48781684-48785073	Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
15	esv3457661	chr2:48781723-48784952	Enhancers Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
16	esv3491825	chr2:48781749-48784974	Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
17	esv3391561	chr2:48781749-48784979	Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
18	esv3491823	chr2:48781769-48784904	Weak transcription Enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases
19	esv3457663	chr2:48781776-48784939	Weak transcription Enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases
20	esv3491826	chr2:48781780-48784920	Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
21	esv3457660	chr2:48781781-48784936	Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
22	esv3457662	chr2:48781789-48784895	Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
23	esv3491824	chr2:48781800-48784911	Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48759000-48787000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:48759000-48787400	Weak transcription	Psoas Muscle	Psoas
3	chr2:48759000-48827600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:48759200-48793200	Weak transcription	Fetal Lung	lung
5	chr2:48767200-48807800	Weak transcription	Aorta	Aorta
6	chr2:48768000-48787600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:48768000-48793800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:48772600-48788000	Weak transcription	Lung	lung
9	chr2:48772800-48787400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:48772800-48787600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:48773000-48785400	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:48773000-48787200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:48773000-48808800	Weak transcription	Right Ventricle	heart
14	chr2:48773600-48787600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:48774800-48786400	Weak transcription	Left Ventricle	heart
16	chr2:48775400-48787400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:48775800-48793600	Weak transcription	Placenta	Placenta
18	chr2:48776400-48786000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:48776600-48786800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:48776600-48794000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:48777200-48807800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:48779000-48785400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:48779200-48787600	Weak transcription	Esophagus	oesophagus
24	chr2:48779200-48789800	Weak transcription	Ovary	ovary
25	chr2:48779400-48800200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:48780600-48793800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:48781200-48793000	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:48781200-48793800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:48781400-48787400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:48781400-48787600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:48781400-48789800	Weak transcription	Fetal Stomach	stomach
32	chr2:48781800-48787400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:48781800-48789400	Weak transcription	Stomach Smooth Muscle	stomach

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