Variant report

Variant	rs1414156
Chromosome Location	chr13:80124707-80124708
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	chr13:80123748..80125276-chr13:80125653..80128359,2	K562	blood:
2	chr13:80120811..80122493-chr13:80123557..80126338,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1208049	0.92[ASN][1000 genomes]
rs1212082	0.96[ASN][1000 genomes]
rs1335368	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1335370	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1408049	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1414155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1475797	0.91[ASN][1000 genomes]
rs1577416	0.91[ASN][1000 genomes]
rs1577418	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2065743	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2181433	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2476172	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2476173	0.96[ASN][1000 genomes]
rs2484343	0.96[ASN][1000 genomes]
rs2484344	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2760101	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2760102	0.96[ASN][1000 genomes]
rs2760103	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2760105	0.93[ASN][1000 genomes]
rs2760106	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2783119	0.92[ASN][1000 genomes]
rs2783120	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2783121	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2783122	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2783125	0.86[ASN][1000 genomes]
rs2783126	0.86[ASN][1000 genomes]
rs2783127	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs314687	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs314689	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs386603	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4145207	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4476060	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4885633	0.82[ASN][1000 genomes]
rs4885634	0.89[ASN][1000 genomes]
rs4885636	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6563110	0.87[ASN][1000 genomes]
rs6563113	0.89[ASN][1000 genomes]
rs6563115	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6563116	0.91[ASN][1000 genomes]
rs700396	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7321953	0.92[ASN][1000 genomes]
rs73235963	0.96[ASN][1000 genomes]
rs7338530	0.87[ASN][1000 genomes]
rs7339303	0.92[ASN][1000 genomes]
rs7982263	0.88[ASN][1000 genomes]
rs7988601	0.87[ASN][1000 genomes]
rs7990250	0.96[EUR][1000 genomes]
rs7990344	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7996493	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8002042	0.89[ASN][1000 genomes]
rs9318644	0.92[ASN][1000 genomes]
rs9530922	0.82[ASN][1000 genomes]
rs9530925	0.89[ASN][1000 genomes]
rs9545142	0.83[ASN][1000 genomes]
rs9565510	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9574429	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9574434	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9593399	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9601240	0.96[ASN][1000 genomes]
rs9601242	0.96[ASN][1000 genomes]
rs987284	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv916983	chr13:80065879-80249702	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1041994	chr13:80123596-80247708	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1414156	RBM26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80087400-80134000	Weak transcription	Aorta	Aorta
2	chr13:80087400-80134600	Weak transcription	Pancreas	Pancrea
3	chr13:80098600-80135000	Weak transcription	Placenta	Placenta
4	chr13:80099400-80133200	Weak transcription	Psoas Muscle	Psoas
5	chr13:80100600-80136400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr13:80100800-80133200	Weak transcription	Hela-S3	cervix
7	chr13:80101800-80133200	Weak transcription	Primary T cells from cord blood	blood
8	chr13:80102200-80133600	Weak transcription	Gastric	stomach
9	chr13:80104800-80133600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:80108400-80132200	Weak transcription	A549	lung
11	chr13:80109000-80129400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:80109000-80133200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr13:80109000-80133200	Weak transcription	HSMM	muscle
14	chr13:80109200-80133200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr13:80109600-80133200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr13:80109800-80128000	Weak transcription	NHDF-Ad	bronchial
17	chr13:80109800-80131600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr13:80110600-80133200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr13:80112600-80131800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr13:80112600-80133200	Weak transcription	Osteobl	bone
21	chr13:80113200-80131600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr13:80113200-80133800	Weak transcription	Left Ventricle	heart
23	chr13:80114400-80130600	Weak transcription	NHEK	skin
24	chr13:80114400-80131600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr13:80114600-80131800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr13:80115000-80133800	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr13:80115200-80127800	Strong transcription	Dnd41	blood
28	chr13:80120200-80132000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr13:80120200-80134200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr13:80122000-80133200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr13:80122200-80133000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr13:80123000-80131600	Weak transcription	Liver	Liver
33	chr13:80123000-80135000	Weak transcription	Stomach Mucosa	stomach
34	chr13:80123200-80129000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr13:80123600-80127400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr13:80123800-80126400	Weak transcription	HMEC	breast
37	chr13:80124000-80126000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr13:80124200-80126000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr13:80124200-80126600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr13:80124200-80129200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr13:80124200-80132600	Weak transcription	Fetal Kidney	kidney
42	chr13:80124200-80133000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr13:80124200-80133200	Weak transcription	Fetal Intestine Small	intestine
44	chr13:80124200-80133200	Weak transcription	HSMMtube	muscle
45	chr13:80124200-80133200	Weak transcription	NH-A	brain
46	chr13:80124200-80134200	Weak transcription	Fetal Intestine Large	intestine
47	chr13:80124400-80132200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr13:80124400-80133200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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