Variant report

Variant	rs564822248
Chromosome Location	chr2:113051535-113051536
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv3422414	chr2:112883450-113200285	Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv582703	chr2:112920219-113100014	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv949573	chr2:112986955-113320975	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv874868	chr2:113021811-113076095	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv874869	chr2:113021811-113089267	Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	nsv874870	chr2:113021811-113097699	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv874871	chr2:113021811-113217630	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	nsv874872	chr2:113027569-113070889	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
11	nsv874873	chr2:113027569-113083367	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
12	nsv874874	chr2:113027569-113089267	Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
13	nsv874875	chr2:113038409-113070889	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv1821302	chr2:113041461-113053061	Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv582707	chr2:113045654-113053061	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv874876	chr2:113051291-113089267	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113034200-113058200	Weak transcription	Ovary	ovary
2	chr2:113034400-113097000	Weak transcription	Psoas Muscle	Psoas
3	chr2:113035000-113057800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:113035000-113057800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:113035000-113057800	Weak transcription	Fetal Intestine Small	intestine
6	chr2:113035600-113058200	Weak transcription	Primary B cells from cord blood	blood
7	chr2:113035800-113058000	Weak transcription	Primary T cells from cord blood	blood
8	chr2:113035800-113060400	Weak transcription	Fetal Thymus	thymus
9	chr2:113035800-113067400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:113036600-113058000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr2:113037000-113054200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr2:113040000-113081800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:113040600-113054400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr2:113041200-113058600	Weak transcription	Fetal Heart	heart
15	chr2:113041400-113058600	Weak transcription	K562	blood
16	chr2:113042400-113051600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:113046000-113052600	Weak transcription	Fetal Lung	lung
18	chr2:113046200-113057800	Weak transcription	Thymus	Thymus
19	chr2:113046600-113079800	Weak transcription	Fetal Stomach	stomach
20	chr2:113046800-113065000	Weak transcription	HSMMtube	muscle
21	chr2:113047200-113058200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr2:113047600-113058400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:113048000-113052200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:113048000-113084400	Weak transcription	Fetal Kidney	kidney
25	chr2:113048200-113051600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:113048200-113064200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:113048400-113061000	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:113048600-113051800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr2:113048600-113060800	Weak transcription	Brain Substantia Nigra	brain
30	chr2:113048600-113081600	Weak transcription	Brain Anterior Caudate	brain
31	chr2:113048600-113081800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr2:113049000-113054200	Weak transcription	Liver	Liver
33	chr2:113050400-113057800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:113050600-113090600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:113051000-113053000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:113051000-113088600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:113051400-113051600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr2:113051400-113051600	Genic enhancers	Aorta	Aorta
39	chr2:113051400-113051600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:113051400-113051600	Enhancers	Esophagus	oesophagus
41	chr2:113051400-113051600	Enhancers	Spleen	Spleen
42	chr2:113051400-113051800	Enhancers	Gastric	stomach
43	chr2:113051400-113051800	Enhancers	Left Ventricle	heart
44	chr2:113051400-113051800	Enhancers	Lung	lung
45	chr2:113051400-113051800	Enhancers	Pancreas	Pancrea
46	chr2:113051400-113051800	Enhancers	Right Atrium	heart
47	chr2:113051400-113051800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr2:113051400-113052800	Enhancers	Osteobl	bone

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