Variant report

Variant	rs2217950
Chromosome Location	chr16:69671394-69671395
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	chr16:69665807..69668565-chr16:69668907..69671600,2	K562	blood:
2	chr16:69665807..69668565-chr16:69668796..69671600,3	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10048108	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10163235	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10454066	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10500551	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10852457	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10852458	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075727	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11075728	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11075730	0.95[ASN][1000 genomes]
rs11075733	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1139178	0.82[EUR][1000 genomes]
rs11639947	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11641050	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11641233	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11642030	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11642115	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11643240	0.90[ASN][1000 genomes]
rs11643530	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11646884	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11648249	0.81[ASN][1000 genomes]
rs12232410	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12447326	0.90[ASN][1000 genomes]
rs12447883	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12449005	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12595869	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12595878	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12595927	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12596823	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12925371	0.82[EUR][1000 genomes]
rs13337236	0.99[ASN][1000 genomes]
rs1437135	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1437136	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16958970	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16959025	0.91[EUR][1000 genomes]
rs16959035	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1800566	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1865965	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2118220	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2196574	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2361838	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2361839	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3169315	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3743673	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3885612	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55701476	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55751101	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56316408	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57488237	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57565297	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60010276	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60099379	0.83[EUR][1000 genomes]
rs60472033	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61310815	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61426398	0.82[EUR][1000 genomes]
rs61460899	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6499239	0.99[ASN][1000 genomes]
rs689455	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7186002	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7189424	0.82[EUR][1000 genomes]
rs7190652	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7196943	0.83[EUR][1000 genomes]
rs7198242	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72783115	0.98[ASN][1000 genomes]
rs74026882	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74029403	0.92[EUR][1000 genomes]
rs8045142	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8045705	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8046314	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8047885	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8052086	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8053080	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8054000	0.95[ASN][1000 genomes]
rs8054096	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8060588	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs920191	0.99[ASN][1000 genomes]
rs9788803	0.99[ASN][1000 genomes]
rs9788837	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9921045	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9933526	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9940548	0.90[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2217950	LOC440348	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69645800-69681000	Weak transcription	Fetal Brain Female	brain
2	chr16:69647600-69705000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr16:69653600-69680800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr16:69653600-69689600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr16:69654200-69703600	Weak transcription	Brain Angular Gyrus	brain
6	chr16:69654200-69705600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr16:69654600-69705000	Weak transcription	Psoas Muscle	Psoas
8	chr16:69660200-69671800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr16:69660400-69709600	Weak transcription	Fetal Brain Male	brain
10	chr16:69660600-69672200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr16:69667000-69727600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr16:69667600-69681000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr16:69667800-69672000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr16:69667800-69680800	Weak transcription	Colon Smooth Muscle	Colon
15	chr16:69668400-69671600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:69668400-69672200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr16:69668600-69671800	ZNF genes & repeats	GM12878-XiMat	blood
18	chr16:69668800-69671600	Strong transcription	Duodenum Mucosa	Duodenum
19	chr16:69669000-69671600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr16:69669000-69671800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr16:69669000-69671800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
22	chr16:69669000-69672000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr16:69669000-69673800	Weak transcription	NHDF-Ad	bronchial
24	chr16:69669200-69671600	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr16:69669200-69671600	Strong transcription	Fetal Lung	lung
26	chr16:69669200-69671600	Strong transcription	Fetal Muscle Trunk	muscle
27	chr16:69669200-69672000	ZNF genes & repeats	A549	lung
28	chr16:69669400-69671400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr16:69669400-69671600	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr16:69669400-69671800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr16:69669400-69671800	Strong transcription	Primary T cells from cord blood	blood
32	chr16:69669400-69671800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr16:69669400-69672000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr16:69669400-69672200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr16:69669400-69672400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr16:69669600-69671400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
37	chr16:69669600-69671600	Strong transcription	Placenta Amnion	Placenta Amnion
38	chr16:69669600-69671800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
39	chr16:69669800-69671400	Strong transcription	Brain Anterior Caudate	brain
40	chr16:69669800-69671400	ZNF genes & repeats	Thymus	Thymus
41	chr16:69669800-69671800	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr16:69669800-69672000	ZNF genes & repeats	Primary B cells from cord blood	blood
43	chr16:69669800-69672200	ZNF genes & repeats	Fetal Intestine Small	intestine
44	chr16:69669800-69672200	Strong transcription	HSMMtube	muscle
45	chr16:69670000-69671400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr16:69670000-69671400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
47	chr16:69670000-69671400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
48	chr16:69670000-69671400	ZNF genes & repeats	Fetal Thymus	thymus
49	chr16:69670000-69671600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr16:69670000-69671600	ZNF genes & repeats	HMEC	breast

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