Variant report

Variant	rs11706185
Chromosome Location	chr3:49988065-49988066
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	chr3:49977058..49978995-chr3:49986374..49988156,2	K562	blood:

Variant related genes	Relation type
ENSG00000004534	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11130226	0.80[AMR][1000 genomes]
rs11130228	0.80[AMR][1000 genomes]
rs11130233	0.80[AMR][1000 genomes]
rs11709503	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11709573	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11721204	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12496973	0.80[AMR][1000 genomes]
rs12634780	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13077403	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13079006	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13082703	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17657664	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17657688	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2252833	0.81[AMR][1000 genomes]
rs2352984	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2526749	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2526750	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2624815	0.82[EUR][1000 genomes]
rs2624819	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2624822	0.82[EUR][1000 genomes]
rs2624832	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2624843	0.81[AMR][1000 genomes]
rs2681776	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2681778	0.81[AMR][1000 genomes]
rs34034116	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34312088	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35065728	0.81[AMR][1000 genomes]
rs35275715	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3733134	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3774734	0.82[EUR][1000 genomes]
rs3774759	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4688753	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4688754	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55692411	0.82[AMR][1000 genomes]
rs62262114	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6446191	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6446192	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6446194	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6446195	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6762477	0.83[EUR][1000 genomes]
rs6774354	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6793528	0.82[EUR][1000 genomes]
rs7430334	0.84[EUR][1000 genomes]
rs7615206	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7626952	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7627864	0.88[AMR][1000 genomes]
rs7627910	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7634441	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7645466	0.81[AMR][1000 genomes]
rs7648174	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs868891	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs952594	0.82[AMR][1000 genomes]
rs9682295	0.82[EUR][1000 genomes]
rs9812936	0.82[EUR][1000 genomes]
rs9844201	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv876767	chr3:49918751-50153356	Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv834689	chr3:49962930-50085119	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv965334	chr3:49967342-50000012	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
5	nsv1012903	chr3:49978765-50071878	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv3463339	chr3:49986019-49993235	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3463340	chr3:49986019-49993235	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs11706185	RBM6	cis	Whole Blood	GTEx
rs11706185	RBM6	cis	lung	GTEx
rs11706185	RBM6	cis	Heart Left Ventricle	GTEx
rs11706185	RBM6	cis	Esophagus Muscularis	GTEx
rs11706185	RBM6	cis	Artery Tibial	GTEx
rs11706185	RBM6	cis	Thyroid	GTEx
rs11706185	RBM6	cis	Nerve Tibial	GTEx
rs11706185	RBM6	cis	Artery Aorta	GTEx
rs11706185	RBM6	Cis_1M	lymphoblastoid	RTeQTL
rs11706185	RBM6	cis	Skin Sun Exposed Lower leg	GTEx
rs11706185	RBM6	cis	Esophagus Mucosa	GTEx
rs11706185	RBM6	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49978600-49988800	Weak transcription	Aorta	Aorta
2	chr3:49978800-50000600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr3:49978800-50004800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr3:49978800-50009600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr3:49978800-50009600	Weak transcription	Fetal Kidney	kidney
6	chr3:49978800-50041000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:49979000-49988800	Weak transcription	Spleen	Spleen
8	chr3:49979000-49990200	Weak transcription	Fetal Lung	lung
9	chr3:49979000-49990600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:49979000-49994600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr3:49979000-49997400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr3:49979000-50000000	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr3:49979000-50000600	Weak transcription	Primary T cells from cord blood	blood
14	chr3:49979000-50001000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr3:49979000-50003400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:49979000-50003600	Weak transcription	Right Ventricle	heart
17	chr3:49979000-50005200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr3:49979000-50010200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:49979400-49990800	Weak transcription	Thymus	Thymus
20	chr3:49979400-49995400	Weak transcription	Placenta	Placenta
21	chr3:49979400-49999000	Weak transcription	Fetal Thymus	thymus
22	chr3:49979400-49999600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr3:49979400-50000400	Weak transcription	Brain Germinal Matrix	brain
24	chr3:49979600-49999800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr3:49979600-50004200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr3:49980200-49991400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr3:49980400-49997400	Weak transcription	HepG2	liver
28	chr3:49980400-50003600	Weak transcription	Brain Angular Gyrus	brain
29	chr3:49980600-49999600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:49980600-50000000	Weak transcription	Dnd41	blood
31	chr3:49980600-50001800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr3:49981400-49999800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr3:49981600-49999600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:49981800-49990000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:49983800-49997600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:49983800-49999200	Weak transcription	Fetal Muscle Leg	muscle
37	chr3:49983800-50003400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr3:49984000-49998200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr3:49984000-50000400	Weak transcription	Fetal Intestine Large	intestine
40	chr3:49984200-49990200	Weak transcription	Fetal Stomach	stomach
41	chr3:49984200-49994800	Weak transcription	Liver	Liver
42	chr3:49984200-49998400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:49985400-49994800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr3:49985600-50000600	Weak transcription	Primary B cells from cord blood	blood
45	chr3:49985800-49988600	Enhancers	GM12878-XiMat	blood
46	chr3:49985800-49989800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr3:49986000-50000600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr3:49986200-49989000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr3:49986800-49988200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr3:49986800-49988400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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