Variant report

Variant	rs2143369
Chromosome Location	chr1:171767372-171767373
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:171750108..171754190-chr1:171766349..171769659,4	K562	blood:
2	chr1:171760261..171763188-chr1:171766979..171768595,2	MCF-7	breast:
3	chr1:171764717..171768373-chr1:171769892..171773572,7	K562	blood:
4	chr1:171749779..171754190-chr1:171762974..171767849,5	K562	blood:

Variant related genes	Relation type
ENSG00000213060	Chromatin interaction
ENSG00000010165	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1045456	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10489252	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10913683	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10913684	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12091786	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565176	0.98[EUR][1000 genomes]
rs12567851	0.87[EUR][1000 genomes]
rs12730717	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12742601	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12750330	0.88[EUR][1000 genomes]
rs12753043	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17596025	0.99[EUR][1000 genomes]
rs17596081	0.99[EUR][1000 genomes]
rs17649609	0.98[EUR][1000 genomes]
rs17650310	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17650340	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17657363	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1801898	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2181216	0.99[EUR][1000 genomes]
rs2223602	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2232807	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2232813	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2232819	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2232824	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2232825	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs236894	0.81[EUR][1000 genomes]
rs236897	0.86[EUR][1000 genomes]
rs236898	0.86[EUR][1000 genomes]
rs236899	0.85[EUR][1000 genomes]
rs236900	0.87[EUR][1000 genomes]
rs34320898	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34627492	0.88[EUR][1000 genomes]
rs35249022	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35400839	0.99[EUR][1000 genomes]
rs35631282	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35674909	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35882887	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35930163	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36080557	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3891278	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55732843	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56365362	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56377810	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61807979	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6656852	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6674364	0.98[EUR][1000 genomes]
rs6675708	0.98[EUR][1000 genomes]
rs6681322	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6689125	0.94[EUR][1000 genomes]
rs6695933	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7522582	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7536142	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv872545	chr1:171735198-171805448	Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2143369	KIAA0859	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171751600-171770800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:171752000-171773600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:171752200-171767400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:171752200-171768200	Strong transcription	Fetal Muscle Trunk	muscle
5	chr1:171752600-171767400	Strong transcription	Primary B cells from cord blood	blood
6	chr1:171752600-171767400	Strong transcription	A549	lung
7	chr1:171752600-171767800	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr1:171752600-171767800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:171752800-171770200	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr1:171753000-171767600	Strong transcription	Fetal Intestine Large	intestine
11	chr1:171753600-171767800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:171754000-171767600	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:171754000-171767800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:171754000-171767800	Strong transcription	Thymus	Thymus
15	chr1:171754200-171767800	Strong transcription	Brain Anterior Caudate	brain
16	chr1:171754200-171767800	Strong transcription	Brain Germinal Matrix	brain
17	chr1:171754200-171768000	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:171754200-171768000	Strong transcription	Fetal Muscle Leg	muscle
19	chr1:171754200-171769600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:171754200-171770200	Strong transcription	Primary T cells from cord blood	blood
21	chr1:171754200-171770200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr1:171754400-171767800	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr1:171754400-171768200	Strong transcription	Left Ventricle	heart
24	chr1:171754600-171767400	Strong transcription	Primary B cells from peripheral blood	blood
25	chr1:171754600-171767600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:171754600-171767800	Strong transcription	Primary hematopoietic stem cells	blood
27	chr1:171754600-171768000	Strong transcription	Liver	Liver
28	chr1:171754800-171767400	Strong transcription	Fetal Brain Female	brain
29	chr1:171754800-171767800	Strong transcription	Duodenum Mucosa	Duodenum
30	chr1:171754800-171768200	Strong transcription	Fetal Thymus	thymus
31	chr1:171754800-171768600	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr1:171754800-171768800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr1:171755000-171767400	Strong transcription	Dnd41	blood
34	chr1:171755000-171767800	Strong transcription	Gastric	stomach
35	chr1:171755000-171767800	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:171755000-171767800	Strong transcription	GM12878-XiMat	blood
37	chr1:171755200-171768000	Strong transcription	Esophagus	oesophagus
38	chr1:171755200-171768000	Strong transcription	Stomach Smooth Muscle	stomach
39	chr1:171755400-171767600	Strong transcription	Adipose Nuclei	Adipose
40	chr1:171755400-171767600	Strong transcription	Lung	lung
41	chr1:171755400-171767800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:171755400-171768000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr1:171755400-171768000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:171755400-171768200	Strong transcription	Spleen	Spleen
45	chr1:171755600-171767400	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:171755600-171767600	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr1:171755600-171768000	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:171756000-171767800	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr1:171758200-171767800	Strong transcription	Brain Cingulate Gyrus	brain
50	chr1:171758600-171768400	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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