Variant report

Variant	rs2141141
Chromosome Location	chr15:41969474-41969475
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:41953663..41957556-chr15:41966682..41969969,3	K562	blood:
2	chr15:41967640..41970567-chr15:41975944..41978799,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10152332	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10152364	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10775122	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10775123	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10775124	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070345	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070347	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632100	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11634840	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11639146	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11639249	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11855017	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1197768	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1197769	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1197772	0.90[ASN][1000 genomes]
rs12148330	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441249	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12900295	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12902548	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12915325	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12916525	0.91[AMR][1000 genomes]
rs12916992	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16972089	0.81[EUR][1000 genomes]
rs16972136	0.83[EUR][1000 genomes]
rs1867416	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1867417	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1880937	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1880938	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1899819	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1899820	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1899821	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1918314	0.90[ASN][1000 genomes]
rs2009310	0.91[ASN][1000 genomes]
rs2178004	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2250964	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2577947	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2577950	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2577951	0.93[ASN][1000 genomes]
rs2577953	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2577954	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2577955	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2577958	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2577959	0.90[ASN][1000 genomes]
rs2605569	0.87[EUR][1000 genomes]
rs2605570	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2695162	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2695163	0.93[ASN][1000 genomes]
rs2695164	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2695166	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2695168	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2695169	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2695170	0.89[EUR][1000 genomes]
rs2918051	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2925337	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2950446	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4244585	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4270151	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4371125	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4465584	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4923908	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924568	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924571	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924572	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62002067	0.90[AMR][1000 genomes]
rs62002069	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493008	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6493010	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7164209	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7169496	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7169668	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7176474	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7177232	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7177911	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7178205	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8027390	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8028886	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8030179	0.89[ASN][1000 genomes]
rs8034261	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8038148	0.84[ASN][1000 genomes]
rs8038783	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8039440	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[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	nsv1049514	chr15:41958482-42081210	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2141141	MGA	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41954400-41970600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:41954400-41978600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:41954400-41982800	Weak transcription	Small Intestine	intestine
4	chr15:41954600-41976200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr15:41954600-41983800	Weak transcription	Thymus	Thymus
6	chr15:41954600-42001000	Weak transcription	Colonic Mucosa	Colon
7	chr15:41954800-41976200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr15:41954800-41980800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr15:41955000-41972600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr15:41955000-41988200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr15:41958400-41978400	Weak transcription	Pancreas	Pancrea
12	chr15:41958800-41973400	Weak transcription	HMEC	breast
13	chr15:41959400-41988600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr15:41959400-41989000	Weak transcription	NHDF-Ad	bronchial
15	chr15:41959600-41981000	Weak transcription	Osteobl	bone
16	chr15:41961600-41975400	Weak transcription	Aorta	Aorta
17	chr15:41961800-41990600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr15:41962000-41969800	Weak transcription	NHEK	skin
19	chr15:41962000-41980200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr15:41962000-41983800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr15:41962000-41988400	Weak transcription	Adipose Nuclei	Adipose
22	chr15:41962000-41990800	Weak transcription	NH-A	brain
23	chr15:41962000-41991200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:41962000-42001400	Weak transcription	Gastric	stomach
25	chr15:41962200-41970400	Weak transcription	Right Ventricle	heart
26	chr15:41962200-41971000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr15:41962200-41971800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr15:41962200-41972000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:41962200-41974800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr15:41962200-41984400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr15:41962200-42001000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr15:41962400-41971400	Weak transcription	Fetal Thymus	thymus
33	chr15:41962600-41970400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr15:41962600-41973000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr15:41962600-41981400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr15:41962600-41981800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr15:41962600-41983400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr15:41962600-41983600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr15:41962600-41984000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr15:41962600-41988400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr15:41962800-41971200	Weak transcription	Fetal Intestine Large	intestine
42	chr15:41962800-41971400	Weak transcription	HSMM	muscle
43	chr15:41963400-41988400	Weak transcription	Placenta	Placenta
44	chr15:41963600-41987800	Weak transcription	Primary B cells from cord blood	blood
45	chr15:41964400-41970800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr15:41964400-41973600	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr15:41964400-41975800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr15:41964600-41971000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr15:41964600-41981000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr15:41964600-41982200	Weak transcription	Ovary	ovary

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