Variant report

Variant	rs187363298
Chromosome Location	chr1:78253157-78253158
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:78243869..78246123-chr1:78252401..78254474,2	K562	blood:

Variant related genes	Relation type
ENSG00000180488	Chromatin interaction
ENSG00000222849	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv830303	chr1:78090824-78308765	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
5	esv1796958	chr1:78138955-78267421	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv1798160	chr1:78149941-78267421	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
8	nsv1004327	chr1:78212804-78352385	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv1006600	chr1:78222312-78384009	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv535011	chr1:78222312-78384009	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	esv3409306	chr1:78253140-78253674	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78246000-78265800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:78246000-78265800	Weak transcription	Pancreas	Pancrea
3	chr1:78246000-78284200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:78246000-78285600	Weak transcription	Colonic Mucosa	Colon
5	chr1:78246200-78254000	Weak transcription	HSMMtube	muscle
6	chr1:78246200-78272000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:78246200-78272800	Weak transcription	Psoas Muscle	Psoas
8	chr1:78246200-78279400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:78246200-78279600	Weak transcription	Aorta	Aorta
10	chr1:78246400-78254200	Weak transcription	NH-A	brain
11	chr1:78246400-78272400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr1:78246400-78273200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:78246400-78274000	Weak transcription	Fetal Kidney	kidney
14	chr1:78246400-78287400	Weak transcription	Fetal Heart	heart
15	chr1:78246600-78274200	Weak transcription	HMEC	breast
16	chr1:78247400-78278400	Weak transcription	Hela-S3	cervix
17	chr1:78247600-78254000	Weak transcription	Fetal Brain Male	brain
18	chr1:78247600-78262200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:78247600-78272400	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:78247800-78257600	Weak transcription	NHDF-Ad	bronchial
21	chr1:78248000-78260000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr1:78248600-78288200	Weak transcription	Small Intestine	intestine
23	chr1:78248800-78256800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:78249000-78253200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:78249000-78254600	Strong transcription	Primary B cells from cord blood	blood
26	chr1:78249000-78256600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr1:78249000-78257600	Weak transcription	HepG2	liver
28	chr1:78249000-78259200	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr1:78249200-78254400	Weak transcription	Stomach Mucosa	stomach
30	chr1:78249200-78256800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:78249200-78271400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:78249400-78253200	Strong transcription	Ovary	ovary
33	chr1:78249400-78253400	Strong transcription	Fetal Muscle Leg	muscle
34	chr1:78249400-78253400	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr1:78249400-78254600	Strong transcription	Stomach Smooth Muscle	stomach
36	chr1:78249400-78255000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr1:78249400-78255200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:78249400-78256600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:78249400-78257000	Strong transcription	Primary T cells from cord blood	blood
40	chr1:78249400-78257600	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr1:78249600-78253200	Strong transcription	Fetal Brain Female	brain
42	chr1:78249600-78254600	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:78249600-78255200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:78249600-78255600	Strong transcription	Fetal Muscle Trunk	muscle
45	chr1:78249600-78256000	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:78249600-78257200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:78249600-78257200	Strong transcription	Adipose Nuclei	Adipose
48	chr1:78249600-78258200	Strong transcription	Fetal Thymus	thymus
49	chr1:78249800-78265200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr1:78250000-78253200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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