Variant report

Variant	rs11097189
Chromosome Location	chr4:76886398-76886399
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	chr4:76884899..76887580-chr4:76953090..76955387,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10008757	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11732759	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11931349	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11947509	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13111710	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13125558	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13126007	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13132564	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13138223	0.91[ASN][1000 genomes]
rs2242471	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2242473	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2242474	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2273	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2292533	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28681066	0.83[ASN][1000 genomes]
rs4282209	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4337760	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4859413	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4859581	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4859582	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4859594	0.81[ASN][1000 genomes]
rs6532078	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6826085	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7436021	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7679177	0.81[EUR][1000 genomes]
rs9307050	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9992952	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9995007	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[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	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1004627	chr4:76793910-76999584	Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs11097189	NAAA	cis	Heart Left Ventricle	GTEx
rs11097189	NAAA	cis	Artery Aorta	GTEx
rs11097189	NAAA	cis	Esophagus Mucosa	GTEx
rs11097189	NAAA	cis	Whole Blood	GTEx
rs11097189	NAAA	cis	Muscle Skeletal	GTEx
rs11097189	CXCL10	Cis_1M	lymphoblastoid	RTeQTL
rs11097189	ART3	cis	Nerve Tibial	GTEx
rs11097189	NAAA	cis	Artery Tibial	GTEx
rs11097189	NAAA	cis	Skin Sun Exposed Lower leg	GTEx
rs11097189	ASAHL	Cis_1M	lymphoblastoid	RTeQTL
rs11097189	NAAA	cis	lung	GTEx
rs11097189	NAAA	cis	Adipose Subcutaneous	GTEx
rs11097189	NAAA	cis	Nerve Tibial	GTEx
rs11097189	NAAA	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76862000-76896600	Weak transcription	Stomach Mucosa	stomach
2	chr4:76862200-76886600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:76863000-76903600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:76864800-76903000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:76866400-76886800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:76867400-76886600	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:76867800-76888800	Strong transcription	Liver	Liver
8	chr4:76867800-76900000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:76867800-76903800	Strong transcription	Fetal Thymus	thymus
10	chr4:76868000-76886400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:76868000-76886600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:76868000-76899800	Strong transcription	Skeletal Muscle Male	skeletal muscle
13	chr4:76868000-76903000	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr4:76868000-76903000	Strong transcription	Stomach Smooth Muscle	stomach
15	chr4:76868000-76903800	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr4:76868200-76903400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:76868200-76903600	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr4:76868400-76903600	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr4:76868400-76903800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:76868400-76903800	Strong transcription	Placenta	Placenta
21	chr4:76869200-76900200	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:76870000-76886800	Strong transcription	Primary T cells from cord blood	blood
23	chr4:76870800-76897600	Strong transcription	Brain Germinal Matrix	brain
24	chr4:76871600-76886600	Strong transcription	Primary B cells from peripheral blood	blood
25	chr4:76872200-76902800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:76876600-76886600	Strong transcription	Primary B cells from cord blood	blood
27	chr4:76876800-76895200	Strong transcription	Fetal Kidney	kidney
28	chr4:76880000-76886600	Weak transcription	Fetal Heart	heart
29	chr4:76880600-76893400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr4:76881200-76886400	Weak transcription	Pancreas	Pancrea
31	chr4:76881200-76886600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr4:76881200-76886600	Weak transcription	Esophagus	oesophagus
33	chr4:76881600-76886600	Weak transcription	Right Ventricle	heart
34	chr4:76881800-76886600	Weak transcription	Spleen	Spleen
35	chr4:76882000-76886800	Weak transcription	Lung	lung
36	chr4:76882400-76898200	Weak transcription	Aorta	Aorta
37	chr4:76882800-76887000	Weak transcription	Colonic Mucosa	Colon
38	chr4:76883000-76886800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr4:76883800-76887800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:76883800-76899800	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr4:76883800-76903000	Strong transcription	Duodenum Mucosa	Duodenum
42	chr4:76884000-76902800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr4:76884200-76886400	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr4:76884200-76899600	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr4:76884200-76899800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr4:76884200-76902800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr4:76884200-76903800	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr4:76884400-76888000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
49	chr4:76884400-76893000	Strong transcription	Brain Anterior Caudate	brain
50	chr4:76884400-76897400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links