Variant report

Variant	rs9392353
Chromosome Location	chr6:2021708-2021709
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:2005493..2008020-chr6:2019551..2022122,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11242730	0.82[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11242734	0.87[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11242735	0.82[CEU][hapmap];0.84[CHD][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11242740	0.93[JPT][hapmap]
rs11965306	0.93[JPT][hapmap]
rs12055694	0.87[CHB][hapmap];0.84[CHD][hapmap];0.93[JPT][hapmap];0.88[MEX][hapmap];0.86[ASN][1000 genomes]
rs12164011	1.00[CEU][hapmap];0.87[JPT][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12528102	0.93[JPT][hapmap]
rs12530335	0.82[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12661847	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17134651	0.87[CHB][hapmap];0.80[CHD][hapmap];0.93[JPT][hapmap];0.86[MEX][hapmap];0.86[ASN][1000 genomes]
rs17134732	0.93[JPT][hapmap]
rs3778557	0.93[JPT][hapmap]
rs3800178	0.87[JPT][hapmap]
rs4580917	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55635233	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56098578	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60898782	0.81[ASN][1000 genomes]
rs62390706	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62390709	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62390733	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62392573	0.84[ASN][1000 genomes]
rs671240	0.92[EUR][1000 genomes]
rs6920883	0.81[CEU][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6924265	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6935616	0.81[CEU][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6935760	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7745086	0.81[CEU][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs7749136	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7753375	0.82[CEU][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs7759455	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9378319	0.82[JPT][hapmap]
rs9378666	0.84[ASN][1000 genomes]
rs9378667	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9378668	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9378670	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9378671	0.81[CEU][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9378672	0.82[CEU][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9378676	0.82[CEU][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9378684	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs9378685	0.93[JPT][hapmap]
rs9391941	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9391943	0.82[CEU][hapmap];0.87[CHB][hapmap];0.93[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9391944	0.84[EUR][1000 genomes]
rs9392348	0.90[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs9392352	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9392354	1.00[MEX][hapmap];0.81[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9392356	0.92[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9392358	0.82[JPT][hapmap]
rs9392371	0.86[JPT][hapmap]
rs9405157	0.81[CHB][hapmap]
rs9405539	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9405540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9405541	0.87[CHB][hapmap];0.87[CHD][hapmap];0.93[JPT][hapmap];0.88[MEX][hapmap];0.92[ASN][1000 genomes]
rs9405542	0.90[ASN][1000 genomes]
rs9405546	0.87[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv931941	chr6:1768439-2246781	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv531295	chr6:1773436-2724986	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
4	nsv1032727	chr6:1900622-2064690	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv538095	chr6:1900622-2064690	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv883386	chr6:1910108-2122454	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv981098	chr6:2008599-2102267	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9392353	MYLK4	cis	cerebellum	SCAN
rs9392353	WRNIP1	cis	parietal	SCAN

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2006200-2034800	Weak transcription	HepG2	liver
2	chr6:2016000-2026800	Weak transcription	Aorta	Aorta
3	chr6:2019800-2040000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:2020600-2022400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:2020600-2022400	Enhancers	Dnd41	blood
6	chr6:2020800-2022600	Enhancers	Primary hematopoietic stem cells	blood
7	chr6:2020800-2022600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr6:2020800-2022600	Enhancers	HMEC	breast
9	chr6:2020800-2022600	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr6:2020800-2022600	Enhancers	NHDF-Ad	bronchial
11	chr6:2021000-2021800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr6:2021000-2022000	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr6:2021000-2022200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr6:2021000-2022400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr6:2021000-2022400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:2021000-2022400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:2021000-2022400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:2021000-2022400	Enhancers	Hela-S3	cervix
19	chr6:2021000-2022600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:2021000-2022600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:2021000-2022600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:2021000-2023600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr6:2021200-2022000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:2021200-2022000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:2021200-2022200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr6:2021200-2022200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:2021200-2022200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr6:2021200-2022200	Enhancers	Left Ventricle	heart
29	chr6:2021200-2022200	Enhancers	Ovary	ovary
30	chr6:2021200-2022200	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr6:2021200-2022200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr6:2021200-2022200	Enhancers	HSMM	muscle
33	chr6:2021200-2022200	Enhancers	HUVEC	blood vessel
34	chr6:2021200-2022400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:2021200-2022400	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr6:2021200-2022400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:2021200-2022400	Enhancers	Adipose Nuclei	Adipose
38	chr6:2021200-2022400	Enhancers	Fetal Muscle Leg	muscle
39	chr6:2021200-2022400	Enhancers	Gastric	stomach
40	chr6:2021200-2022400	Enhancers	Psoas Muscle	Psoas
41	chr6:2021200-2022400	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr6:2021200-2022400	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr6:2021200-2022400	Enhancers	HSMMtube	muscle
44	chr6:2021200-2022400	Enhancers	Osteobl	bone
45	chr6:2021200-2022600	Enhancers	Fetal Kidney	kidney
46	chr6:2021200-2022600	Enhancers	Fetal Lung	lung
47	chr6:2021200-2022600	Enhancers	Stomach Mucosa	stomach
48	chr6:2021200-2023000	Enhancers	Brain Germinal Matrix	brain
49	chr6:2021400-2022000	Weak transcription	Small Intestine	intestine
50	chr6:2021400-2022200	Enhancers	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links