Variant report

Variant	rs11947509
Chromosome Location	chr4:76875316-76875317
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	chr4:76863857..76865771-chr4:76874139..76877133,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10000130	0.80[ASN][1000 genomes]
rs10003240	0.80[ASN][1000 genomes]
rs10003382	0.80[ASN][1000 genomes]
rs10008757	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10014049	0.80[ASN][1000 genomes]
rs10014837	0.80[ASN][1000 genomes]
rs10017431	0.80[ASN][1000 genomes]
rs10021768	0.80[ASN][1000 genomes]
rs10025102	0.80[ASN][1000 genomes]
rs10031452	0.83[ASN][1000 genomes]
rs10336	0.83[ASN][1000 genomes]
rs11097189	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11097212	0.80[ASN][1000 genomes]
rs11732759	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11931349	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13111710	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13125558	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13126007	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13130018	0.80[ASN][1000 genomes]
rs13130221	0.80[ASN][1000 genomes]
rs13132564	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13138223	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1554013	0.83[ASN][1000 genomes]
rs2242471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292533	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28681066	0.86[ASN][1000 genomes]
rs4129781	0.80[ASN][1000 genomes]
rs4241578	0.80[ASN][1000 genomes]
rs4241579	0.80[ASN][1000 genomes]
rs4241580	0.80[ASN][1000 genomes]
rs4257674	0.80[ASN][1000 genomes]
rs4282209	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4302486	0.80[ASN][1000 genomes]
rs4309862	0.80[ASN][1000 genomes]
rs4318674	0.83[ASN][1000 genomes]
rs4337760	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4356932	0.80[ASN][1000 genomes]
rs4371639	0.80[ASN][1000 genomes]
rs4386624	0.80[ASN][1000 genomes]
rs4417995	0.80[ASN][1000 genomes]
rs4456983	0.80[ASN][1000 genomes]
rs4478212	0.80[ASN][1000 genomes]
rs4580676	0.80[ASN][1000 genomes]
rs4583787	0.80[ASN][1000 genomes]
rs4619915	0.80[ASN][1000 genomes]
rs4859413	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859414	0.80[ASN][1000 genomes]
rs4859415	0.80[ASN][1000 genomes]
rs4859581	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859582	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859584	0.80[ASN][1000 genomes]
rs4859586	0.80[ASN][1000 genomes]
rs4859587	0.80[ASN][1000 genomes]
rs4859588	0.80[ASN][1000 genomes]
rs4859591	0.80[ASN][1000 genomes]
rs4859594	0.83[ASN][1000 genomes]
rs4859595	0.80[ASN][1000 genomes]
rs4859597	0.80[ASN][1000 genomes]
rs4859598	0.80[ASN][1000 genomes]
rs4859600	0.80[ASN][1000 genomes]
rs6532078	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6532083	0.83[ASN][1000 genomes]
rs6532086	0.80[ASN][1000 genomes]
rs6532093	0.80[ASN][1000 genomes]
rs6532111	0.80[ASN][1000 genomes]
rs6532114	0.80[ASN][1000 genomes]
rs6814012	0.80[ASN][1000 genomes]
rs6814817	0.80[ASN][1000 genomes]
rs6819597	0.80[ASN][1000 genomes]
rs6819920	0.80[ASN][1000 genomes]
rs6825045	0.80[ASN][1000 genomes]
rs6826085	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6828596	0.80[ASN][1000 genomes]
rs6844097	0.80[ASN][1000 genomes]
rs6845396	0.80[ASN][1000 genomes]
rs6850760	0.80[ASN][1000 genomes]
rs6852075	0.80[ASN][1000 genomes]
rs6856958	0.80[ASN][1000 genomes]
rs7436021	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7436646	0.80[ASN][1000 genomes]
rs7665152	0.80[ASN][1000 genomes]
rs7670789	0.80[ASN][1000 genomes]
rs7674409	0.80[ASN][1000 genomes]
rs7679177	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8878	0.80[ASN][1000 genomes]
rs9307050	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9884374	0.80[ASN][1000 genomes]
rs9992952	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9995007	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[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
rs11947509	ASAHL	Cis_1M	lymphoblastoid	RTeQTL
rs11947509	NAAA	cis	Skin Sun Exposed Lower leg	GTEx
rs11947509	NAAA	cis	Artery Aorta	GTEx
rs11947509	NAAA	cis	Nerve Tibial	GTEx
rs11947509	NAAA	cis	Artery Tibial	GTEx
rs11947509	NAAA	cis	Adipose Subcutaneous	GTEx
rs11947509	NAAA	cis	Esophagus Mucosa	GTEx
rs11947509	NAAA	cis	Muscle Skeletal	GTEx
rs11947509	ART3	cis	Nerve Tibial	GTEx
rs11947509	CXCL10	Cis_1M	lymphoblastoid	RTeQTL
rs11947509	NAAA	cis	Heart Left Ventricle	GTEx
rs11947509	NAAA	cis	Whole Blood	GTEx
rs11947509	NAAA	cis	lung	GTEx
rs11947509	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	chr4:76862000-76875600	Weak transcription	Fetal Heart	heart
2	chr4:76862000-76896600	Weak transcription	Stomach Mucosa	stomach
3	chr4:76862200-76876400	Weak transcription	Gastric	stomach
4	chr4:76862200-76876600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:76862200-76886600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:76862400-76875400	Weak transcription	Spleen	Spleen
7	chr4:76862400-76876600	Weak transcription	Aorta	Aorta
8	chr4:76862400-76876600	Weak transcription	Small Intestine	intestine
9	chr4:76862600-76876000	Weak transcription	Psoas Muscle	Psoas
10	chr4:76862600-76876400	Weak transcription	Esophagus	oesophagus
11	chr4:76862600-76876400	Weak transcription	Fetal Brain Male	brain
12	chr4:76862600-76876400	Weak transcription	Pancreas	Pancrea
13	chr4:76862600-76876800	Weak transcription	Hela-S3	cervix
14	chr4:76863000-76903600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:76863800-76884600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:76864600-76884800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:76864800-76883800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:76864800-76884400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr4:76864800-76884600	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:76864800-76903000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:76866200-76883000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:76866400-76886800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:76866600-76883000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:76867400-76882600	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr4:76867400-76882800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:76867400-76883000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr4:76867400-76883200	Strong transcription	Osteobl	bone
28	chr4:76867400-76885600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr4:76867400-76886600	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr4:76867800-76875400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr4:76867800-76882800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr4:76867800-76883000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:76867800-76883200	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr4:76867800-76883400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr4:76867800-76884600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr4:76867800-76888800	Strong transcription	Liver	Liver
37	chr4:76867800-76900000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:76867800-76903800	Strong transcription	Fetal Thymus	thymus
39	chr4:76868000-76882800	Strong transcription	Adipose Nuclei	Adipose
40	chr4:76868000-76882800	Strong transcription	Left Ventricle	heart
41	chr4:76868000-76883000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr4:76868000-76884600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:76868000-76884800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr4:76868000-76886400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:76868000-76886600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr4:76868000-76899800	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr4:76868000-76903000	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr4:76868000-76903000	Strong transcription	Stomach Smooth Muscle	stomach
49	chr4:76868000-76903800	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr4:76868200-76882800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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