Variant report

Variant	rs12116804
Chromosome Location	chr1:221903805-221903806
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	chr1:221902184..221910150-chr1:221912477..221917248,16	K562	blood:
2	chr1:221902783..221905534-chr1:221906000..221908483,2	K562	blood:

Variant related genes	Relation type
ENSG00000143507	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12027098	0.94[ASN][1000 genomes]
rs12030765	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12030868	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12034061	0.94[ASN][1000 genomes]
rs12034850	0.94[ASN][1000 genomes]
rs12036163	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12041033	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12042829	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12044821	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4275462	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv1007092	chr1:221883491-221958279	Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv535303	chr1:221883491-221958279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221890800-221906400	Weak transcription	Right Ventricle	heart
2	chr1:221890800-221910200	Weak transcription	Lung	lung
3	chr1:221891800-221911000	Weak transcription	Gastric	stomach
4	chr1:221891800-221913000	Weak transcription	Fetal Intestine Large	intestine
5	chr1:221893000-221913600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:221897200-221907800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:221897200-221914200	Weak transcription	Aorta	Aorta
8	chr1:221897400-221908800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:221897400-221913400	Weak transcription	HepG2	liver
10	chr1:221897600-221906800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:221897600-221908000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:221897600-221910200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:221897800-221904000	Genic enhancers	HMEC	breast
14	chr1:221898000-221904000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:221898000-221906400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:221898600-221904000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr1:221898600-221905800	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr1:221898600-221913600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:221899400-221912400	Weak transcription	Esophagus	oesophagus
20	chr1:221899600-221906200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:221899600-221906400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:221899600-221908000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:221899600-221912400	Weak transcription	Thymus	Thymus
24	chr1:221899800-221904000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:221899800-221904000	Enhancers	Colon Smooth Muscle	Colon
26	chr1:221899800-221906200	Weak transcription	Adipose Nuclei	Adipose
27	chr1:221899800-221909600	Weak transcription	K562	blood
28	chr1:221899800-221910800	Weak transcription	NH-A	brain
29	chr1:221900000-221904000	Genic enhancers	Muscle Satellite Cultured Cells	--
30	chr1:221900200-221911200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr1:221900600-221904000	Genic enhancers	Liver	Liver
32	chr1:221900800-221906600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr1:221901000-221904000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:221901400-221906600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr1:221901400-221913800	Weak transcription	Placenta	Placenta
36	chr1:221901600-221904600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr1:221901800-221908400	Weak transcription	Small Intestine	intestine
38	chr1:221901800-221908600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:221901800-221913600	Weak transcription	Hela-S3	cervix
40	chr1:221901800-221913800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:221902000-221905600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:221902000-221906600	Weak transcription	Primary B cells from peripheral blood	blood
43	chr1:221902400-221905400	Weak transcription	Dnd41	blood
44	chr1:221902400-221905600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr1:221902400-221906400	Weak transcription	Brain Substantia Nigra	brain
46	chr1:221902400-221907800	Weak transcription	Primary B cells from cord blood	blood
47	chr1:221902400-221909400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:221902400-221910400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:221902600-221906400	Weak transcription	Fetal Heart	heart
50	chr1:221902600-221910000	Weak transcription	Primary T cells from cord blood	blood

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