Variant report

Variant	rs4523384
Chromosome Location	chr9:100037450-100037451
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10122063	0.84[ASN][1000 genomes]
rs10125198	0.82[ASN][1000 genomes]
rs1037948	0.83[ASN][1000 genomes]
rs10435867	0.84[ASN][1000 genomes]
rs10435868	0.82[ASN][1000 genomes]
rs10448274	0.82[ASN][1000 genomes]
rs10759624	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10817487	0.82[ASN][1000 genomes]
rs10981280	0.80[EUR][1000 genomes]
rs10981288	0.81[EUR][1000 genomes]
rs10981296	0.82[EUR][1000 genomes]
rs10981329	0.87[EUR][1000 genomes]
rs10981438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11791310	0.87[EUR][1000 genomes]
rs11998999	0.83[EUR][1000 genomes]
rs12004930	0.84[EUR][1000 genomes]
rs12005128	0.85[EUR][1000 genomes]
rs12235305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13297670	0.83[EUR][1000 genomes]
rs13298346	0.87[EUR][1000 genomes]
rs13299627	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13301357	0.89[EUR][1000 genomes]
rs13302699	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1544203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1903635	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1947717	0.85[ASN][1000 genomes]
rs2219664	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2242187	0.81[ASN][1000 genomes]
rs2279114	0.81[ASN][1000 genomes]
rs2306097	0.84[ASN][1000 genomes]
rs2493442	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2493443	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2502644	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2615143	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2615145	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2795365	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2795367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2818238	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2818239	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2818243	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3214072	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34382632	0.83[EUR][1000 genomes]
rs34955252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35609998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3747489	0.81[ASN][1000 genomes]
rs3747493	0.82[ASN][1000 genomes]
rs3747496	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs3802471	0.83[ASN][1000 genomes]
rs4237189	0.80[ASN][1000 genomes]
rs4284138	0.87[EUR][1000 genomes]
rs4313271	0.85[ASN][1000 genomes]
rs4366181	0.80[ASN][1000 genomes]
rs4554595	0.85[ASN][1000 genomes]
rs4743072	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4743076	0.84[ASN][1000 genomes]
rs4743077	0.86[ASN][1000 genomes]
rs4743084	0.82[ASN][1000 genomes]
rs55694850	0.82[EUR][1000 genomes]
rs6478095	0.84[ASN][1000 genomes]
rs6478131	0.81[ASN][1000 genomes]
rs713066	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72747776	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7470446	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs750674	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7856924	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9696167	0.82[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	nsv972791	chr9:100007482-100037888	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4523384	ANKRD18CP	cis	Thyroid	GTEx
rs4523384	VN1R51P	cis	Thyroid	GTEx

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100001200-100039400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr9:100002000-100037800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr9:100002000-100038600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr9:100002000-100038600	Weak transcription	Fetal Intestine Large	intestine
5	chr9:100002000-100038600	Weak transcription	Fetal Intestine Small	intestine
6	chr9:100002000-100038800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr9:100002000-100038800	Weak transcription	Ovary	ovary
8	chr9:100002000-100038800	Weak transcription	Right Ventricle	heart
9	chr9:100002000-100039000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr9:100002000-100039600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr9:100002000-100039600	Weak transcription	Adipose Nuclei	Adipose
12	chr9:100002000-100039600	Weak transcription	Colon Smooth Muscle	Colon
13	chr9:100002000-100039600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr9:100002000-100040400	Weak transcription	Spleen	Spleen
15	chr9:100002200-100038800	Weak transcription	Liver	Liver
16	chr9:100002200-100039400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr9:100002200-100039400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr9:100010600-100039400	Weak transcription	Brain Hippocampus Middle	brain
19	chr9:100011600-100038800	Weak transcription	Fetal Stomach	stomach
20	chr9:100011600-100039600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr9:100013000-100040400	Weak transcription	Brain Substantia Nigra	brain
22	chr9:100022600-100039000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:100023400-100039600	Weak transcription	Fetal Lung	lung
24	chr9:100024400-100040600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr9:100024400-100042600	Weak transcription	Fetal Heart	heart
26	chr9:100025000-100039400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr9:100025800-100038600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr9:100025800-100050200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:100028600-100039000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr9:100031200-100039800	Weak transcription	Lung	lung
31	chr9:100032400-100038800	Weak transcription	Aorta	Aorta
32	chr9:100033800-100039800	Weak transcription	Dnd41	blood
33	chr9:100034000-100038600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr9:100034000-100039400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr9:100034000-100039400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr9:100034200-100039800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr9:100034800-100037600	Weak transcription	K562	blood
38	chr9:100034800-100037800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr9:100034800-100038000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr9:100034800-100038400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr9:100034800-100038400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr9:100034800-100039800	Weak transcription	Fetal Kidney	kidney
43	chr9:100034800-100040400	Weak transcription	Fetal Brain Male	brain
44	chr9:100035000-100037800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr9:100035000-100038000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr9:100035000-100038200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr9:100035000-100038400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr9:100035000-100038400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr9:100035000-100059600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr9:100035600-100038600	Weak transcription	Brain Anterior Caudate	brain

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