Variant report

Variant	rs34037363
Chromosome Location	chr3:48821036-48821037
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	chr3:48816757..48818353-chr3:48820387..48821948,2	K562	blood:

Extended variants
information (count: 105 )
Associated
traits (count: 19 )

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs1048940	0.84[CEU][hapmap]
rs10780033	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11130176	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1134591	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs11706983	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap]
rs11708022	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11708786	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.85[TSI][hapmap]
rs11709092	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11709246	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11713694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11715689	0.89[AMR][1000 genomes]
rs11715713	0.89[AMR][1000 genomes]
rs11715835	0.93[AMR][1000 genomes]
rs11716614	0.92[CEU][hapmap]
rs11717978	0.86[AMR][1000 genomes]
rs11719291	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap]
rs11719457	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11920534	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11928552	0.87[CHD][hapmap]
rs12107252	0.83[GIH][hapmap]
rs12107418	0.83[GIH][hapmap]
rs12493289	1.00[JPT][hapmap]
rs12493578	1.00[CHD][hapmap]
rs12497850	1.00[CHD][hapmap]
rs13063312	0.83[GIH][hapmap]
rs13070798	0.83[GIH][hapmap]
rs13073997	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13074318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13084000	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13086240	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13087930	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13090839	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13092715	1.00[JPT][hapmap]
rs13094900	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13315711	1.00[JPT][hapmap]
rs13324142	0.83[GIH][hapmap]
rs13434258	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap]
rs1352420	1.00[CHD][hapmap]
rs17080289	0.83[GIH][hapmap]
rs17080319	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs2276850	0.83[GIH][hapmap]
rs2276852	0.83[GIH][hapmap]
rs2286652	0.83[GIH][hapmap]
rs2310996	0.83[GIH][hapmap]
rs28642807	0.84[ASN][1000 genomes]
rs34477108	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34509487	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35064573	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap]
rs3774628	1.00[JPT][hapmap]
rs3821876	0.83[GIH][hapmap]
rs4858798	1.00[CHD][hapmap]
rs4858828	1.00[CHD][hapmap]
rs4858831	1.00[CHD][hapmap]
rs4974078	0.87[CHD][hapmap]
rs4974079	1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4974082	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4974085	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4974087	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs55761431	0.87[EUR][1000 genomes]
rs56318350	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6442130	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6446253	1.00[JPT][hapmap]
rs67060340	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67332931	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6788650	1.00[CHD][hapmap]
rs6791542	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6792156	0.83[GIH][hapmap]
rs71324924	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73080361	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7373778	0.86[ASN][1000 genomes]
rs740787	0.83[GIH][hapmap]
rs7430198	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7430501	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7431710	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7431857	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7621015	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7623023	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7627404	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7628719	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7631574	0.83[GIH][hapmap]
rs7643368	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7647813	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7649458	1.00[CHD][hapmap]
rs9311430	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs9311433	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs9311434	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs9637481	1.00[JPT][hapmap]
rs9681717	0.84[ASN][1000 genomes]
rs9682444	0.87[CHD][hapmap];0.82[ASN][1000 genomes]
rs9754878	0.82[ASN][1000 genomes]
rs9755490	0.87[CHD][hapmap];0.84[ASN][1000 genomes]
rs9811027	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs9811318	0.83[GIH][hapmap]
rs9812200	0.83[GIH][hapmap]
rs9830581	0.83[GIH][hapmap]
rs9834996	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs9835307	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9836462	0.83[GIH][hapmap]
rs9841602	0.83[GIH][hapmap]
rs9843316	0.83[GIH][hapmap]
rs9850134	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs9876848	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs9882549	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.85[TSI][hapmap]
rs9884022	1.00[JPT][hapmap]

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	esv3407876	chr3:48774454-48823998	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:19)

SNP	Gene	Cis/trans	Tissue	Source
rs34037363	WDR6	cis	cerebellum	SCAN
rs34037363	WDR6	cis	parietal	SCAN
rs34037363	CCDC36	cis	cerebellum	SCAN
rs34037363	WDR6	cis	Adipose Subcutaneous	GTEx
rs34037363	NICN1	cis	cerebellum	SCAN
rs34037363	KBTBD3	trans	parietal	SCAN
rs34037363	ALAS1	cis	cerebellum	SCAN
rs34037363	ARIH2	cis	cerebellum	SCAN
rs34037363	WDR6	cis	Artery Tibial	GTEx
rs34037363	C3orf62	cis	cerebellum	SCAN
rs34037363	CSPG5	cis	parietal	SCAN
rs34037363	WDR6	cis	Esophagus Mucosa	GTEx
rs34037363	WDR6	cis	Whole Blood	GTEx
rs34037363	CCDC71	cis	cerebellum	SCAN
rs34037363	WDR6	cis	Skin Sun Exposed Lower leg	GTEx
rs34037363	RNF123	cis	parietal	SCAN
rs34037363	USP4	Cis_1M	lymphoblastoid	RTeQTL
rs34037363	LRRC2	cis	cerebellum	SCAN
rs34037363	HEMK1	cis	parietal	SCAN

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48778200-48836600	Weak transcription	A549	lung
2	chr3:48778600-48826000	Weak transcription	Stomach Mucosa	stomach
3	chr3:48789400-48844000	Weak transcription	Fetal Lung	lung
4	chr3:48789600-48825800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr3:48790200-48823600	Weak transcription	HMEC	breast
6	chr3:48791200-48825800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr3:48793200-48825800	Weak transcription	Fetal Thymus	thymus
8	chr3:48795200-48833600	Weak transcription	Psoas Muscle	Psoas
9	chr3:48797000-48823400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:48802200-48832600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:48807600-48822000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:48808000-48822200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:48808000-48825600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr3:48808200-48821800	Weak transcription	HSMMtube	muscle
15	chr3:48808200-48827000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:48808400-48828000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr3:48809000-48849400	Weak transcription	GM12878-XiMat	blood
18	chr3:48809600-48826200	Weak transcription	Primary B cells from cord blood	blood
19	chr3:48810000-48826000	Weak transcription	Brain Angular Gyrus	brain
20	chr3:48810000-48882800	Weak transcription	Fetal Brain Female	brain
21	chr3:48810400-48848600	Weak transcription	Brain Anterior Caudate	brain
22	chr3:48810600-48821800	Weak transcription	NHEK	skin
23	chr3:48810600-48835000	Weak transcription	HUVEC	blood vessel
24	chr3:48810600-48842600	Weak transcription	Pancreas	Pancrea
25	chr3:48810800-48836600	Weak transcription	Hela-S3	cervix
26	chr3:48812400-48825000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:48814000-48822200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr3:48814400-48822200	Strong transcription	Fetal Stomach	stomach
29	chr3:48814800-48827200	Weak transcription	Fetal Heart	heart
30	chr3:48815000-48821400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr3:48816600-48822400	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr3:48817800-48821400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:48818000-48822400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:48818000-48822400	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr3:48818200-48821200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr3:48818200-48822600	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr3:48818400-48822200	Strong transcription	Adipose Nuclei	Adipose
38	chr3:48818600-48821800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:48818800-48821200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr3:48818800-48822400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr3:48818800-48825800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr3:48819000-48822400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:48819200-48822200	Strong transcription	Stomach Smooth Muscle	stomach
44	chr3:48819200-48822400	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr3:48819200-48822400	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr3:48819400-48822200	Strong transcription	Fetal Intestine Large	intestine
47	chr3:48819400-48822400	Strong transcription	Duodenum Mucosa	Duodenum
48	chr3:48819600-48822200	Strong transcription	Primary T cells from cord blood	blood
49	chr3:48819600-48822200	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr3:48819600-48822200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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