Variant report

Variant	rs12759796
Chromosome Location	chr1:78027885-78027886
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12740982	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36003200	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv871143	chr1:77955577-78031994	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1533	chr1:77990504-78036279	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv870709	chr1:78016517-78198322	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78000000-78030600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr1:78000000-78031200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:78005600-78034800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:78005800-78032400	Weak transcription	Psoas Muscle	Psoas
5	chr1:78006000-78031000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:78006200-78064400	Weak transcription	Stomach Mucosa	stomach
7	chr1:78007800-78028400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr1:78012000-78031000	Weak transcription	Brain Angular Gyrus	brain
9	chr1:78012600-78031000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:78014400-78030600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr1:78014400-78031800	Weak transcription	Right Ventricle	heart
12	chr1:78016000-78030600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:78017800-78031000	Weak transcription	HepG2	liver
14	chr1:78019600-78031200	Weak transcription	Fetal Heart	heart
15	chr1:78019800-78028400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:78019800-78029200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:78019800-78031200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:78019800-78031200	Weak transcription	K562	blood
19	chr1:78020000-78028400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:78021600-78030600	Weak transcription	Adipose Nuclei	Adipose
21	chr1:78021800-78028400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr1:78022200-78030200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:78022200-78030800	Weak transcription	Hela-S3	cervix
24	chr1:78022400-78030600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:78022400-78032400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr1:78022600-78034000	Strong transcription	Primary T cells from cord blood	blood
27	chr1:78022800-78030200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:78022800-78031000	Weak transcription	Spleen	Spleen
29	chr1:78023000-78028000	Weak transcription	HMEC	breast
30	chr1:78023000-78028200	Weak transcription	Placenta	Placenta
31	chr1:78023000-78028800	Weak transcription	Fetal Intestine Large	intestine
32	chr1:78023000-78031000	Weak transcription	Fetal Brain Female	brain
33	chr1:78023200-78028200	Weak transcription	Esophagus	oesophagus
34	chr1:78023200-78030800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:78023200-78031000	Weak transcription	Ovary	ovary
36	chr1:78023200-78050200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:78023400-78028400	Weak transcription	HUVEC	blood vessel
38	chr1:78023400-78030600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:78023400-78031000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr1:78023400-78046200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr1:78023600-78028400	Weak transcription	Fetal Kidney	kidney
42	chr1:78023600-78029800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:78023600-78035800	Strong transcription	HSMM	muscle
44	chr1:78023800-78029000	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr1:78023800-78030800	Weak transcription	Brain Germinal Matrix	brain
46	chr1:78023800-78048800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:78024000-78028200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:78024000-78028200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:78024200-78028600	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr1:78024200-78029000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links