Variant report

Variant	rs74090656
Chromosome Location	chr1:78035439-78035440
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	chr1:78030983..78033542-chr1:78034721..78037146,2	K562	blood:
2	chr1:78013815..78015446-chr1:78033681..78035927,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs57939520	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59090864	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59272007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59814571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090498	1.00[AMR][1000 genomes]
rs74090606	1.00[AMR][1000 genomes]
rs74090629	1.00[AMR][1000 genomes]
rs74090677	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090699	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74092307	1.00[AMR][1000 genomes]
rs74092311	1.00[AMR][1000 genomes]
rs74092605	1.00[AMR][1000 genomes]
rs74092606	1.00[AMR][1000 genomes]
rs74092608	1.00[AMR][1000 genomes]
rs74092611	1.00[AMR][1000 genomes]
rs74092612	1.00[AMR][1000 genomes]
rs74092614	1.00[AMR][1000 genomes]
rs74092615	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78006200-78064400	Weak transcription	Stomach Mucosa	stomach
2	chr1:78023200-78050200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:78023400-78046200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:78023600-78035800	Strong transcription	HSMM	muscle
5	chr1:78023800-78048800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:78024600-78048000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr1:78024800-78038000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:78024800-78038000	Weak transcription	Pancreas	Pancrea
9	chr1:78024800-78048400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:78024800-78071000	Weak transcription	Gastric	stomach
11	chr1:78025000-78038000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:78025400-78050600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:78026000-78049400	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr1:78026400-78048800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:78026800-78049200	Weak transcription	Colonic Mucosa	Colon
16	chr1:78027200-78049800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:78027400-78036000	Strong transcription	Dnd41	blood
18	chr1:78028400-78035600	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:78028600-78054600	Weak transcription	Esophagus	oesophagus
20	chr1:78029400-78035600	Weak transcription	Fetal Intestine Small	intestine
21	chr1:78029400-78039800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr1:78029800-78038000	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:78029800-78047800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:78029800-78048000	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:78029800-78050600	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr1:78030000-78048800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:78030200-78036000	Strong transcription	Liver	Liver
28	chr1:78030200-78048200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr1:78030200-78048800	Strong transcription	Fetal Intestine Large	intestine
30	chr1:78030200-78049400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:78030400-78035600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:78030400-78039200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:78030400-78047600	Strong transcription	Duodenum Mucosa	Duodenum
34	chr1:78030400-78050400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:78030600-78035800	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:78030600-78038800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:78030600-78047800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:78030800-78035600	Strong transcription	Colon Smooth Muscle	Colon
39	chr1:78031000-78036200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:78031000-78039000	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:78031000-78039200	Strong transcription	Fetal Muscle Leg	muscle
42	chr1:78031600-78041800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr1:78032000-78047200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:78032000-78049000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr1:78032000-78062800	Weak transcription	Fetal Heart	heart
46	chr1:78032400-78047000	Weak transcription	Fetal Brain Male	brain
47	chr1:78032600-78046600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr1:78032600-78070800	Weak transcription	Aorta	Aorta
49	chr1:78032800-78038000	Weak transcription	Fetal Stomach	stomach
50	chr1:78032800-78041000	Weak transcription	Brain Germinal Matrix	brain

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