Variant report

Variant	rs3768414
Chromosome Location	chr1:226917898-226917899
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226904763..226906290-chr1:226916156..226917932,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12738771	0.96[ASN][1000 genomes]
rs1289273	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6667260	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv997468	chr1:226858660-226975311	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv535316	chr1:226858660-226975311	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3768414	ARF1	cis	cerebellum	SCAN

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226891800-226924800	Weak transcription	Aorta	Aorta
2	chr1:226893400-226918800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:226909600-226919000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:226909800-226918800	Genic enhancers	Fetal Thymus	thymus
5	chr1:226909800-226919000	Genic enhancers	Primary B cells from cord blood	blood
6	chr1:226909800-226924200	Genic enhancers	Primary B cells from peripheral blood	blood
7	chr1:226910000-226925000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
8	chr1:226910200-226918000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
9	chr1:226910200-226922400	Weak transcription	Fetal Brain Male	brain
10	chr1:226910800-226920400	Weak transcription	Colonic Mucosa	Colon
11	chr1:226912000-226919000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:226912000-226920600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:226912000-226920600	Weak transcription	NHEK	skin
14	chr1:226912000-226923200	Weak transcription	NH-A	brain
15	chr1:226912200-226919000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:226912200-226921800	Weak transcription	NHDF-Ad	bronchial
17	chr1:226912200-226922000	Weak transcription	HMEC	breast
18	chr1:226912200-226923600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:226912400-226920600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:226912400-226920600	Weak transcription	NHLF	lung
21	chr1:226912400-226924600	Weak transcription	Ovary	ovary
22	chr1:226912600-226918200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:226912600-226919000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:226912600-226920400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:226912600-226920400	Weak transcription	Fetal Intestine Large	intestine
26	chr1:226912600-226920600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:226912800-226921000	Weak transcription	HUVEC	blood vessel
28	chr1:226912800-226921800	Weak transcription	Placenta	Placenta
29	chr1:226912800-226925400	Weak transcription	Stomach Mucosa	stomach
30	chr1:226913000-226919200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:226913000-226919200	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
32	chr1:226913200-226920600	Weak transcription	Fetal Kidney	kidney
33	chr1:226913400-226920800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:226913600-226920400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:226913600-226923000	Weak transcription	Gastric	stomach
36	chr1:226914200-226920800	Weak transcription	Right Ventricle	heart
37	chr1:226915000-226925000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
38	chr1:226915200-226918000	Strong transcription	Dnd41	blood
39	chr1:226915600-226918000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:226915600-226918400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr1:226915600-226918600	Genic enhancers	Thymus	Thymus
42	chr1:226915600-226920400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:226915600-226920400	Weak transcription	Small Intestine	intestine
44	chr1:226916000-226918000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:226916000-226919400	Strong transcription	Fetal Muscle Leg	muscle
46	chr1:226916000-226920600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:226916200-226918000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr1:226916400-226918000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr1:226916400-226918000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr1:226916400-226920200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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