Variant report

Variant	rs6573953
Chromosome Location	chr14:70799706-70799707
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	chr14:70798672..70801263-chr14:70804505..70807177,2	K562	blood:
2	chr14:70798472..70800440-chr14:70832228..70834010,2	MCF-7	breast:

Extended variants
information (count: 111 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10130596	0.95[ASN][1000 genomes]
rs10132815	0.92[ASN][1000 genomes]
rs10134376	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10137455	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139233	0.92[ASN][1000 genomes]
rs10140161	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10140263	0.92[ASN][1000 genomes]
rs10140916	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10140938	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10141034	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10142875	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10146506	0.92[ASN][1000 genomes]
rs10146573	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10146684	0.92[ASN][1000 genomes]
rs10148810	0.92[ASN][1000 genomes]
rs10149724	0.86[ASN][1000 genomes]
rs10150618	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10873232	0.82[CHB][hapmap];0.87[ASN][1000 genomes]
rs11158851	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11158856	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11620731	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11627279	0.82[ASN][1000 genomes]
rs12164868	0.87[ASN][1000 genomes]
rs12431557	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12433437	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12434413	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.83[YRI][hapmap];0.97[ASN][1000 genomes]
rs12588332	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12886764	0.95[ASN][1000 genomes]
rs12889915	0.95[ASN][1000 genomes]
rs17475866	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17476211	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2275297	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2275298	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2332278	0.86[CHB][hapmap]
rs2332279	0.86[CHB][hapmap]
rs2332363	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2332364	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2332366	0.85[ASN][1000 genomes]
rs2332368	0.92[ASN][1000 genomes]
rs2332369	0.92[ASN][1000 genomes]
rs2332370	0.92[ASN][1000 genomes]
rs2332371	0.92[ASN][1000 genomes]
rs2332374	0.92[ASN][1000 genomes]
rs2332375	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2332416	0.97[ASN][1000 genomes]
rs2332418	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2332419	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2332420	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2332422	0.92[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2877656	0.95[ASN][1000 genomes]
rs2877658	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2877659	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2877660	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2877670	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3784155	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs4600398	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4749	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4899344	0.95[ASN][1000 genomes]
rs4899345	0.92[ASN][1000 genomes]
rs4902814	0.92[ASN][1000 genomes]
rs6420899	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6573948	0.95[ASN][1000 genomes]
rs6573950	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6573951	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6573952	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6573954	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6573956	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6573957	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6573958	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6573959	0.89[ASN][1000 genomes]
rs6573960	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7144850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145450	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7146414	0.92[ASN][1000 genomes]
rs7146493	0.92[ASN][1000 genomes]
rs7146553	0.92[ASN][1000 genomes]
rs7147906	0.92[ASN][1000 genomes]
rs7148114	0.92[ASN][1000 genomes]
rs7148889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150558	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7152300	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7152584	0.92[ASN][1000 genomes]
rs7154657	0.95[ASN][1000 genomes]
rs7155162	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7155332	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7155564	0.95[ASN][1000 genomes]
rs7155763	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7155967	0.95[ASN][1000 genomes]
rs7157399	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7157430	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7158117	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7158315	0.92[ASN][1000 genomes]
rs7159039	0.92[ASN][1000 genomes]
rs7159747	0.92[ASN][1000 genomes]
rs7160880	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8005386	0.87[ASN][1000 genomes]
rs8006423	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8009793	0.89[ASN][1000 genomes]
rs8011014	0.92[ASN][1000 genomes]
rs8011156	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs8013862	0.95[ASN][1000 genomes]
rs8017274	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs8021610	0.92[ASN][1000 genomes]
rs8022128	0.95[ASN][1000 genomes]
rs8022288	0.95[ASN][1000 genomes]
rs8022315	0.92[ASN][1000 genomes]
rs9323535	0.95[ASN][1000 genomes]
rs9323537	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9788426	0.92[ASN][1000 genomes]
rs9788537	0.92[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	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6573953	NUMB	cis	parietal	SCAN
rs6573953	COX16	cis	cerebellum	SCAN
rs6573953	TTC9	cis	parietal	SCAN
rs6573953	VTI1B	cis	cerebellum	SCAN
rs6573953	COX16	cis	parietal	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70784000-70801000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:70784200-70800600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr14:70788200-70813600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:70791000-70799800	Weak transcription	Fetal Heart	heart
5	chr14:70791200-70808600	Weak transcription	HUVEC	blood vessel
6	chr14:70792000-70809800	Weak transcription	Hela-S3	cervix
7	chr14:70792800-70801000	Weak transcription	Small Intestine	intestine
8	chr14:70792800-70825200	Weak transcription	NH-A	brain
9	chr14:70795600-70800200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr14:70795600-70800400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr14:70795800-70800200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:70797200-70799800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
13	chr14:70797600-70801400	ZNF genes & repeats	Fetal Intestine Small	intestine
14	chr14:70797600-70813000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr14:70798000-70817200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:70798200-70802200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
17	chr14:70798400-70802200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
18	chr14:70798400-70804200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:70798600-70799800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:70798600-70799800	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr14:70798600-70799800	ZNF genes & repeats	Aorta	Aorta
22	chr14:70798600-70799800	ZNF genes & repeats	Brain Angular Gyrus	brain
23	chr14:70798600-70799800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:70798600-70799800	ZNF genes & repeats	Brain Substantia Nigra	brain
25	chr14:70798600-70799800	Strong transcription	Colon Smooth Muscle	Colon
26	chr14:70798600-70799800	ZNF genes & repeats	Fetal Stomach	stomach
27	chr14:70798600-70799800	ZNF genes & repeats	Spleen	Spleen
28	chr14:70798600-70800000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:70798600-70800000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
30	chr14:70798600-70800000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
31	chr14:70798600-70800000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:70798600-70800000	ZNF genes & repeats	Brain Germinal Matrix	brain
33	chr14:70798600-70800000	ZNF genes & repeats	Thymus	Thymus
34	chr14:70798600-70800200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
35	chr14:70798600-70800200	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr14:70798600-70800200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:70798600-70800400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr14:70798600-70801200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
39	chr14:70798600-70801200	ZNF genes & repeats	Fetal Muscle Leg	muscle
40	chr14:70798600-70801200	ZNF genes & repeats	GM12878-XiMat	blood
41	chr14:70798600-70801800	ZNF genes & repeats	Adipose Nuclei	Adipose
42	chr14:70798600-70802000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
43	chr14:70798600-70802200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
44	chr14:70798600-70802200	ZNF genes & repeats	Fetal Brain Female	brain
45	chr14:70798600-70802200	ZNF genes & repeats	Fetal Intestine Large	intestine
46	chr14:70798600-70802200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
47	chr14:70798600-70802200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
48	chr14:70798600-70802400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:70798600-70802400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
50	chr14:70798600-70803800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links