Variant report

Variant	rs9364048
Chromosome Location	chr6:70399065-70399066
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:70394533..70397337-chr6:70397791..70400550,2	K562	blood:
2	chr6:70391229..70393909-chr6:70398368..70401310,2	K562	blood:
3	chr6:70394524..70396033-chr6:70397791..70400788,2	K562	blood:

Extended variants
information (count: 108 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs1026441	0.84[ASN][1000 genomes]
rs1031629	0.80[JPT][hapmap]
rs12173563	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs12175229	0.83[ASN][1000 genomes]
rs12525951	0.81[CHB][hapmap]
rs12661224	0.82[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs1457492	0.83[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs1457493	0.85[ASN][1000 genomes]
rs1457494	0.83[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs1542412	0.84[ASN][1000 genomes]
rs1902654	0.82[JPT][hapmap]
rs1963956	0.85[ASN][1000 genomes]
rs1993481	0.83[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs2045444	0.83[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs2125022	0.85[ASN][1000 genomes]
rs2168714	0.93[AMR][1000 genomes]
rs2290710	0.81[ASN][1000 genomes]
rs2305837	0.83[CHB][hapmap];0.85[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs2305838	0.85[CHD][hapmap];0.82[JPT][hapmap]
rs2305839	0.82[CHB][hapmap];0.85[CHD][hapmap]
rs2345238	0.93[AMR][1000 genomes]
rs2345239	0.93[AMR][1000 genomes]
rs3214021	0.85[ASN][1000 genomes]
rs3752787	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs3752790	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs3778242	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs3799100	0.85[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs3799104	0.82[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs3799105	0.83[CHB][hapmap];0.87[CHD][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs3799106	0.84[ASN][1000 genomes]
rs3799117	0.83[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs3799119	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs3799120	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs3816563	0.85[ASN][1000 genomes]
rs3823078	0.83[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs3823079	0.85[ASN][1000 genomes]
rs4304126	0.83[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap]
rs4348273	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs4516910	0.83[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs45559535	0.81[ASN][1000 genomes]
rs4624831	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs4706271	0.83[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs4706272	0.83[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs4706273	0.83[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs4706274	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4706283	0.81[ASN][1000 genomes]
rs4707278	0.84[ASN][1000 genomes]
rs4707289	0.83[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs4707343	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs59459704	0.81[ASN][1000 genomes]
rs6455338	0.83[CHB][hapmap];0.85[CHD][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs6455339	0.83[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs6902295	0.87[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs6904680	0.86[CHB][hapmap]
rs6920280	0.82[JPT][hapmap]
rs6938478	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs72910810	0.81[ASN][1000 genomes]
rs7738792	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs7741758	0.82[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs7742087	0.84[ASN][1000 genomes]
rs7743613	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs7752533	0.82[JPT][hapmap]
rs7762400	0.83[CHB][hapmap];0.85[CHD][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs8180582	0.84[ASN][1000 genomes]
rs921972	0.82[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs9294851	0.83[CHB][hapmap];0.87[CHD][hapmap];0.82[JPT][hapmap]
rs9342764	0.86[AMR][1000 genomes]
rs9342767	0.83[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs9342769	0.83[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs9342770	0.81[ASN][1000 genomes]
rs9342773	0.83[CHB][hapmap];0.85[CHD][hapmap];0.82[JPT][hapmap]
rs9342777	0.81[CHB][hapmap]
rs9346323	0.93[AMR][1000 genomes]
rs9346325	0.93[AMR][1000 genomes]
rs9346327	0.84[ASN][1000 genomes]
rs9346328	0.83[ASN][1000 genomes]
rs9346332	0.81[ASN][1000 genomes]
rs9346333	0.83[CHB][hapmap];0.85[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs9346335	0.83[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs9346336	0.81[ASN][1000 genomes]
rs9346339	0.81[ASN][1000 genomes]
rs9346344	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs9346348	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs9346350	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs9346353	0.85[CHD][hapmap];0.82[JPT][hapmap]
rs9351772	0.83[CHB][hapmap];0.85[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs9351776	0.83[CHB][hapmap];0.85[CHD][hapmap];0.82[JPT][hapmap]
rs9354877	0.84[ASN][1000 genomes]
rs9354879	0.86[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs9354881	0.81[ASN][1000 genomes]
rs9354882	0.82[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs9354887	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs9354888	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs9354890	0.83[CHB][hapmap];0.85[CHD][hapmap];0.82[JPT][hapmap]
rs9354891	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs9360397	0.83[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs9360399	0.81[ASN][1000 genomes]
rs9364047	0.84[ASN][1000 genomes]
rs9364051	0.81[ASN][1000 genomes]
rs9364053	0.81[ASN][1000 genomes]
rs9364054	0.83[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs9364056	0.86[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs9364057	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs9364058	0.83[CHB][hapmap];0.85[CHD][hapmap];0.82[JPT][hapmap]
rs9364061	0.82[JPT][hapmap]
rs9364066	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886140	chr6:70354682-70728202	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv830682	chr6:70397851-70592883	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS 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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9364048	LMBRD1	cis	cerebellum	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70378800-70407400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:70378800-70409600	Weak transcription	Brain Substantia Nigra	brain
3	chr6:70378800-70416800	Weak transcription	Fetal Kidney	kidney
4	chr6:70378800-70430800	Weak transcription	Fetal Stomach	stomach
5	chr6:70378800-70430800	Weak transcription	Spleen	Spleen
6	chr6:70378800-70435200	Weak transcription	Psoas Muscle	Psoas
7	chr6:70379000-70428400	Weak transcription	Ovary	ovary
8	chr6:70379000-70435400	Weak transcription	Fetal Brain Male	brain
9	chr6:70379600-70431000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr6:70380200-70407600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr6:70380400-70430600	Weak transcription	Fetal Intestine Small	intestine
12	chr6:70380600-70455600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr6:70380800-70402800	Weak transcription	NHDF-Ad	bronchial
14	chr6:70380800-70467800	Weak transcription	K562	blood
15	chr6:70382000-70406400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr6:70382200-70435400	Weak transcription	Brain Angular Gyrus	brain
17	chr6:70382400-70430200	Weak transcription	Small Intestine	intestine
18	chr6:70382800-70403400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:70383800-70407800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr6:70383800-70431000	Weak transcription	Lung	lung
21	chr6:70384000-70415800	Weak transcription	Fetal Lung	lung
22	chr6:70384200-70428400	Weak transcription	Aorta	Aorta
23	chr6:70384200-70431000	Weak transcription	Fetal Muscle Leg	muscle
24	chr6:70384400-70405200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:70384400-70405600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr6:70384400-70407200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:70384600-70406400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr6:70384600-70407800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr6:70384600-70407800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr6:70384600-70409800	Weak transcription	Brain Hippocampus Middle	brain
31	chr6:70384600-70417400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:70384800-70406400	Weak transcription	GM12878-XiMat	blood
33	chr6:70385000-70406400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr6:70385000-70407600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:70385000-70421600	Weak transcription	Fetal Intestine Large	intestine
36	chr6:70385200-70406200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr6:70386200-70403400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:70386400-70403200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:70386400-70408000	Weak transcription	Placenta	Placenta
40	chr6:70386600-70404400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:70387000-70406400	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr6:70387000-70407800	Weak transcription	Dnd41	blood
43	chr6:70387200-70406400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr6:70387200-70407400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr6:70387200-70407800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr6:70387400-70403400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:70387400-70406000	Weak transcription	Adipose Nuclei	Adipose
48	chr6:70387400-70406400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr6:70387400-70406400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:70387400-70407400	Weak transcription	Fetal Thymus	thymus

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