Variant report

Variant	rs16978530
Chromosome Location	chr18:43848827-43848828
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:43840075..43842434-chr18:43846486..43849095,2	K562	blood:
2	chr18:43848661..43851599-chr18:43856427..43859027,2	K562	blood:
3	chr18:43847366..43849073-chr18:43852796..43854373,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs11082518	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs11875115	0.82[ASN][1000 genomes]
rs12604963	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12605275	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12605945	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs12607898	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs12709736	0.81[ASN][1000 genomes]
rs12953780	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12954967	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12962307	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs12963943	0.81[ASN][1000 genomes]
rs12965578	0.92[ASN][1000 genomes]
rs12969147	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs12970379	0.81[ASN][1000 genomes]
rs1626506	0.80[ASN][1000 genomes]
rs1632043	0.80[ASN][1000 genomes]
rs1658906	0.81[ASN][1000 genomes]
rs1658907	0.81[ASN][1000 genomes]
rs1658908	0.83[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap]
rs16978526	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1791401	0.81[ASN][1000 genomes]
rs1791407	0.82[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs1791408	0.81[ASN][1000 genomes]
rs1791410	0.81[ASN][1000 genomes]
rs1791412	0.81[ASN][1000 genomes]
rs1791413	0.87[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1791414	0.87[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1791421	0.80[ASN][1000 genomes]
rs1866322	0.84[JPT][hapmap]
rs35211836	0.81[ASN][1000 genomes]
rs3744858	0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs4274509	0.83[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs4315430	0.81[ASN][1000 genomes]
rs4453596	0.85[JPT][hapmap]
rs4542747	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs4890321	0.82[ASN][1000 genomes]
rs4890628	0.80[ASN][1000 genomes]
rs4890629	0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs4890632	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs6507667	0.81[ASN][1000 genomes]
rs6507675	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.86[ASN][1000 genomes]
rs6507679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6507680	0.80[ASN][1000 genomes]
rs6507692	0.82[ASN][1000 genomes]
rs718513	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs7227847	0.80[ASN][1000 genomes]
rs7230905	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7231820	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs7234695	0.82[JPT][hapmap]
rs7239351	0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs7240354	0.81[ASN][1000 genomes]
rs7241527	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs7241983	0.86[ASN][1000 genomes]
rs7242375	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs7245091	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs7506126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8084309	0.85[JPT][hapmap]
rs8085233	0.80[JPT][hapmap]
rs8086610	0.80[ASN][1000 genomes]
rs8086956	0.85[JPT][hapmap]
rs8090542	0.80[ASN][1000 genomes]
rs8094706	0.85[JPT][hapmap]
rs8095142	0.82[ASN][1000 genomes]
rs9944715	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs9945783	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs9947206	0.82[ASN][1000 genomes]
rs9949494	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs9952469	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs9959526	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9967229	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][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	nsv1064031	chr18:43782309-43878806	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43830000-43854200	Weak transcription	Esophagus	oesophagus
2	chr18:43831000-43851400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr18:43831400-43863200	Weak transcription	Fetal Intestine Small	intestine
4	chr18:43833800-43856800	Weak transcription	Aorta	Aorta
5	chr18:43834800-43849000	Weak transcription	HUVEC	blood vessel
6	chr18:43840000-43853600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:43840600-43850600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr18:43841000-43861400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr18:43841000-43864200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr18:43841200-43849600	Strong transcription	Dnd41	blood
11	chr18:43841400-43858000	Weak transcription	HSMMtube	muscle
12	chr18:43841400-43858400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr18:43842200-43849200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr18:43842200-43852000	Weak transcription	Colonic Mucosa	Colon
15	chr18:43842200-43869800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr18:43843200-43850600	Weak transcription	Brain Substantia Nigra	brain
17	chr18:43843200-43852200	Weak transcription	Gastric	stomach
18	chr18:43843200-43855200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr18:43843600-43858200	Weak transcription	K562	blood
20	chr18:43844000-43857600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr18:43844200-43849600	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr18:43844200-43857000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr18:43844200-43861400	Weak transcription	Hela-S3	cervix
24	chr18:43844400-43856400	Weak transcription	NHDF-Ad	bronchial
25	chr18:43844400-43857800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr18:43844600-43849000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr18:43844600-43851800	Weak transcription	Right Atrium	heart
28	chr18:43844600-43854000	Weak transcription	GM12878-XiMat	blood
29	chr18:43844600-43857800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr18:43844600-43857800	Weak transcription	Adipose Nuclei	Adipose
31	chr18:43844600-43858400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr18:43844800-43849000	Weak transcription	Left Ventricle	heart
33	chr18:43844800-43849800	Weak transcription	Osteobl	bone
34	chr18:43844800-43851800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr18:43844800-43853600	Weak transcription	Placenta	Placenta
36	chr18:43844800-43857000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr18:43844800-43857600	Weak transcription	NH-A	brain
38	chr18:43845000-43853600	Weak transcription	HMEC	breast
39	chr18:43845000-43856800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr18:43845000-43861400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr18:43845200-43853200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr18:43845400-43856200	Weak transcription	Fetal Thymus	thymus
43	chr18:43845600-43850200	Weak transcription	Ovary	ovary
44	chr18:43845600-43850600	Weak transcription	Fetal Intestine Large	intestine
45	chr18:43845600-43853000	Weak transcription	Small Intestine	intestine
46	chr18:43845600-43853600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr18:43845600-43856400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr18:43845600-43857000	Weak transcription	NHLF	lung
49	chr18:43845600-43857600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr18:43845600-43858800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links