Variant report

Variant	rs9429694
Chromosome Location	chr1:113158289-113158290
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:112930309..112940640-chr1:113155859..113164847,24	MCF-7	breast:
2	chr1:113007615..113010022-chr1:113157506..113159362,2	MCF-7	breast:
3	chr1:113137197..113139930-chr1:113155526..113159416,3	MCF-7	breast:
4	chr1:112931259..112933878-chr1:113156941..113159026,2	K562	blood:
5	chr1:112931958..112934579-chr1:113156530..113159050,3	MCF-7	breast:
6	chr1:113157097..113164348-chr1:113214570..113220795,12	MCF-7	breast:
7	chr1:113156399..113165396-chr1:113241191..113253782,55	MCF-7	breast:
8	chr1:112934954..112937732-chr1:113156801..113159593,3	MCF-7	breast:
9	chr1:113157493..113160120-chr1:113249713..113252199,3	K562	blood:
10	chr1:113157945..113159730-chr1:113240824..113243096,2	K562	blood:
11	chr1:113156746..113166477-chr1:113240630..113253423,46	MCF-7	breast:
12	chr1:113155822..113159612-chr1:113243591..113247554,4	K562	blood:
13	chr1:113004968..113007930-chr1:113157239..113158871,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000155366	Chromatin interaction
ENSG00000155363	Chromatin interaction
ENSG00000143079	Chromatin interaction
ENSG00000134245	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10745332	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10857969	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11102494	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11102508	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11102510	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11102517	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12048528	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12118370	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12119489	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12125361	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126494	0.84[EUR][1000 genomes]
rs12136781	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12137107	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12138335	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12143068	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1238	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12401734	0.84[EUR][1000 genomes]
rs12402469	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12402929	0.84[EUR][1000 genomes]
rs12406906	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12739994	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12750023	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12750621	0.84[EUR][1000 genomes]
rs12758377	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17438324	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2273369	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2932529	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2932534	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2932535	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2932538	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2932539	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3013433	0.80[EUR][1000 genomes]
rs3013441	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34531155	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35482634	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36029940	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3762335	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3790611	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3790612	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3795820	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4240534	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4838960	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4838961	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4839257	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61818772	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61818800	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537740	0.85[EUR][1000 genomes]
rs6537744	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6537745	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537746	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6537747	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6658555	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6659677	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6661642	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6663922	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6668533	0.83[EUR][1000 genomes]
rs6671645	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6672761	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6673930	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6674053	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6674068	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6681371	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6682678	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6690169	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6690292	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6691025	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6691917	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6693880	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6696991	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6698030	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6701351	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7415988	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7512984	0.81[ASN][1000 genomes]
rs7516421	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7519368	0.91[EUR][1000 genomes]
rs7522110	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7527076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535636	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7537789	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7542820	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7546203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7549547	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7551933	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7552692	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9662162	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs999923	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv432631	chr1:113071834-113200797	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
5	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9429694	CAPZA1	Cis_1M	lymphoblastoid	RTeQTL
rs9429694	ST7L	cis	lung	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113109000-113160000	Weak transcription	Gastric	stomach
2	chr1:113115800-113160000	Weak transcription	Small Intestine	intestine
3	chr1:113116400-113160000	Weak transcription	Spleen	Spleen
4	chr1:113118000-113160800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:113118800-113160400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:113129600-113159000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:113131400-113160000	Weak transcription	Fetal Heart	heart
8	chr1:113132600-113159800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:113133000-113160000	Weak transcription	Fetal Brain Male	brain
10	chr1:113133000-113160800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:113133200-113159600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:113133200-113159600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr1:113135400-113159800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:113136600-113158800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:113136800-113159400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:113137600-113160200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr1:113138000-113159400	Strong transcription	Fetal Muscle Leg	muscle
18	chr1:113139200-113159600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:113140200-113159200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:113140400-113160400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:113140600-113159200	Strong transcription	Fetal Stomach	stomach
22	chr1:113144000-113158600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:113144000-113160800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:113145000-113159600	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:113145800-113159400	Strong transcription	Fetal Muscle Trunk	muscle
26	chr1:113146800-113159000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:113147800-113158400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:113148200-113158400	Strong transcription	Brain Germinal Matrix	brain
29	chr1:113148200-113158800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:113148200-113158800	Strong transcription	Liver	Liver
31	chr1:113148200-113158800	Strong transcription	Dnd41	blood
32	chr1:113148200-113159000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:113148200-113159000	Strong transcription	Placenta	Placenta
34	chr1:113148200-113159200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:113148200-113159800	Strong transcription	Fetal Intestine Small	intestine
36	chr1:113148400-113158600	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:113148400-113158600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:113148400-113158800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr1:113148400-113158800	Strong transcription	Adipose Nuclei	Adipose
40	chr1:113148400-113158800	Strong transcription	Osteobl	bone
41	chr1:113148400-113159000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:113148400-113159200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:113148400-113159200	Strong transcription	Fetal Brain Female	brain
44	chr1:113148400-113159200	Strong transcription	Fetal Intestine Large	intestine
45	chr1:113148600-113159000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr1:113148600-113159200	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:113148800-113158400	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:113148800-113158800	Strong transcription	Hela-S3	cervix
49	chr1:113148800-113159000	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:113148800-113159200	Strong transcription	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links