Variant report

Variant	rs16862701
Chromosome Location	chr1:169775142-169775143
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169452217..169454597-chr1:169772651..169775174,2	K562	blood:
2	chr1:169773501..169777762-chr1:169777936..169781823,4	K562	blood:
3	chr1:169766093..169768334-chr1:169772109..169775699,3	K562	blood:
4	chr1:169764079..169768334-chr1:169771934..169775856,6	K562	blood:

Variant related genes	Relation type
ENSG00000000460	Chromatin interaction
ENSG00000171806	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16828212	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16862686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16862693	1.00[AMR][1000 genomes]
rs16862695	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16862736	1.00[AMR][1000 genomes]
rs16862760	1.00[AMR][1000 genomes]
rs16862766	1.00[AMR][1000 genomes]
rs16862857	1.00[AMR][1000 genomes]
rs1883435	1.00[AMR][1000 genomes]
rs4987274	1.00[AMR][1000 genomes]
rs58764600	1.00[AMR][1000 genomes]
rs59795603	1.00[AMR][1000 genomes]
rs882596	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169764600-169782400	Weak transcription	Pancreas	Pancrea
2	chr1:169764800-169793200	Weak transcription	Aorta	Aorta
3	chr1:169764800-169793200	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:169764800-169793400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:169764800-169795200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:169764800-169796200	Weak transcription	Spleen	Spleen
7	chr1:169764800-169818200	Weak transcription	Esophagus	oesophagus
8	chr1:169764800-169818200	Weak transcription	Lung	lung
9	chr1:169764800-169823600	Weak transcription	Gastric	stomach
10	chr1:169765000-169776000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:169765000-169786000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:169765000-169793200	Weak transcription	Fetal Brain Male	brain
13	chr1:169765000-169808000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:169765000-169821800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:169765200-169776600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr1:169765200-169779600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:169765200-169781200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr1:169765200-169781600	Weak transcription	Brain Substantia Nigra	brain
19	chr1:169765200-169783200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr1:169765200-169793200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:169765200-169793200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:169765200-169793400	Weak transcription	Fetal Kidney	kidney
23	chr1:169765200-169797400	Weak transcription	HSMMtube	muscle
24	chr1:169765200-169802000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:169765200-169807800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:169765200-169808000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:169765200-169809000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr1:169765200-169814800	Weak transcription	Brain Anterior Caudate	brain
29	chr1:169765200-169815200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:169765200-169818800	Weak transcription	Brain Angular Gyrus	brain
31	chr1:169765200-169820600	Weak transcription	Psoas Muscle	Psoas
32	chr1:169765200-169823400	Weak transcription	Right Ventricle	heart
33	chr1:169765400-169788200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr1:169765400-169796800	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:169765400-169798400	Weak transcription	Brain Germinal Matrix	brain
36	chr1:169765400-169798400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:169765400-169808000	Weak transcription	Fetal Heart	heart
38	chr1:169765400-169822600	Weak transcription	Colonic Mucosa	Colon
39	chr1:169765600-169783800	Weak transcription	Fetal Intestine Small	intestine
40	chr1:169765600-169808000	Weak transcription	Small Intestine	intestine
41	chr1:169765600-169818200	Weak transcription	NHLF	lung
42	chr1:169765800-169793200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr1:169765800-169808000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:169765800-169815200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr1:169765800-169818400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr1:169766000-169796800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:169766000-169797000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:169766000-169797400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr1:169769400-169785800	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:169770400-169785000	Strong transcription	Dnd41	blood

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