Variant report

Variant	rs2287648
Chromosome Location	chr14:78353758-78353759
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	chr14:78348937..78352037-chr14:78352512..78354999,3	K562	blood:

Extended variants
information (count: 107 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10130790	0.87[CHB][hapmap]
rs10873312	0.88[ASN][1000 genomes]
rs1107991	0.87[CHB][hapmap]
rs11159290	0.87[CHB][hapmap]
rs11159291	1.00[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.80[TSI][hapmap];0.88[ASN][1000 genomes]
rs11159294	0.95[CHB][hapmap];0.91[CHD][hapmap]
rs11159298	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11159299	0.89[ASN][1000 genomes]
rs11159300	1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs11159301	1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs11159302	1.00[CHB][hapmap];0.98[CHD][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs11159303	0.87[ASN][1000 genomes]
rs11159305	0.90[ASN][1000 genomes]
rs11159306	0.87[CHB][hapmap]
rs11159307	0.92[ASW][hapmap];0.82[CEU][hapmap];0.84[YRI][hapmap]
rs11621642	0.87[ASN][1000 genomes]
rs11622297	0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs11625833	0.93[ASN][1000 genomes]
rs11626480	0.87[ASN][1000 genomes]
rs11628049	0.87[CHB][hapmap]
rs11629157	0.91[ASN][1000 genomes]
rs12587361	1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs12878486	0.81[ASN][1000 genomes]
rs12878904	1.00[CHB][hapmap]
rs12879726	0.95[CHB][hapmap]
rs12884153	0.95[CHB][hapmap]
rs12891444	0.87[ASN][1000 genomes]
rs12891769	0.87[ASN][1000 genomes]
rs12893815	0.87[CHB][hapmap]
rs12894510	0.83[ASN][1000 genomes]
rs12897885	0.87[ASN][1000 genomes]
rs17826188	0.93[ASN][1000 genomes]
rs2003600	0.95[CHB][hapmap]
rs2013130	0.88[ASN][1000 genomes]
rs2017927	0.87[CHB][hapmap]
rs2052444	0.87[CHB][hapmap]
rs2080814	0.84[EUR][1000 genomes]
rs2080815	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2080816	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs2080817	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs2080818	0.89[ASN][1000 genomes]
rs2098584	1.00[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs2287650	0.87[CHB][hapmap]
rs2364739	0.81[EUR][1000 genomes]
rs2364741	0.83[EUR][1000 genomes]
rs2364743	1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs2364842	0.95[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs2886167	0.87[CHB][hapmap]
rs2886168	0.87[CHB][hapmap]
rs3783961	0.81[ASN][1000 genomes]
rs3783962	1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs3783966	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs3783968	1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs3783969	0.95[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs3783970	0.89[ASN][1000 genomes]
rs3783972	0.87[ASN][1000 genomes]
rs3783974	0.87[CHB][hapmap]
rs3825691	0.87[CHB][hapmap]
rs4359362	0.95[CHB][hapmap]
rs4371094	0.87[CHB][hapmap]
rs4393507	0.95[CHB][hapmap]
rs4411442	0.86[ASN][1000 genomes]
rs4448861	0.87[CHB][hapmap]
rs4899677	0.95[CHB][hapmap];0.91[CHD][hapmap]
rs4899678	1.00[CHB][hapmap]
rs4899679	0.82[CEU][hapmap];0.87[CHB][hapmap]
rs4903650	0.88[ASN][1000 genomes]
rs4903652	0.88[ASN][1000 genomes]
rs4903653	0.88[ASN][1000 genomes]
rs4903654	0.95[CHB][hapmap]
rs4903655	0.87[CHB][hapmap]
rs4903656	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs4903657	0.89[ASN][1000 genomes]
rs4903658	1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs4903660	0.87[CHB][hapmap]
rs4903661	0.87[CHB][hapmap]
rs4903662	0.82[CEU][hapmap];0.87[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4903663	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs4903664	0.87[CHB][hapmap]
rs4903666	0.87[CHB][hapmap]
rs4903667	0.89[CHB][hapmap]
rs7145309	1.00[ASW][hapmap];0.82[CEU][hapmap];0.87[CHB][hapmap];0.92[LWK][hapmap];0.87[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7145567	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs7147735	0.87[CHB][hapmap]
rs7149884	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs7149911	0.92[ASW][hapmap];0.82[CEU][hapmap];0.85[YRI][hapmap]
rs7151404	0.81[CEU][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes]
rs719049	0.95[CHB][hapmap]
rs724263	0.87[CHB][hapmap]
rs726538	0.95[CHB][hapmap];0.91[CHD][hapmap]
rs734654	0.87[CHB][hapmap]
rs7401295	0.88[ASN][1000 genomes]
rs741573	1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs741574	1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs741575	0.87[CHB][hapmap]
rs7493386	0.95[CHB][hapmap]
rs7494718	0.89[ASN][1000 genomes]
rs8014296	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs8018674	0.82[CEU][hapmap];0.87[CHB][hapmap]
rs8018963	0.81[ASN][1000 genomes]
rs8019539	0.86[CHB][hapmap]
rs8020016	0.87[ASN][1000 genomes]
rs874025	0.87[CHB][hapmap]
rs877561	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs962539	0.95[CHB][hapmap]
rs962540	0.89[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	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2287648	MRPL51	trans	cerebellum	SCAN

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78306000-78356400	Weak transcription	Thymus	Thymus
2	chr14:78324200-78354800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:78327800-78400600	Weak transcription	Colonic Mucosa	Colon
4	chr14:78335800-78358600	Weak transcription	HSMMtube	muscle
5	chr14:78336400-78354200	Weak transcription	Fetal Intestine Large	intestine
6	chr14:78339600-78353800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:78340800-78354200	Weak transcription	Primary B cells from cord blood	blood
8	chr14:78346600-78375600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr14:78347200-78366000	Weak transcription	Psoas Muscle	Psoas
10	chr14:78348000-78356400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr14:78349200-78355200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr14:78349200-78355800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:78349200-78356000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr14:78349200-78356000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:78349200-78358200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr14:78349200-78397200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:78349200-78407200	Weak transcription	Colon Smooth Muscle	Colon
18	chr14:78349400-78354400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr14:78349400-78355400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:78349400-78378000	Weak transcription	Fetal Brain Female	brain
21	chr14:78349800-78358400	Weak transcription	Stomach Mucosa	stomach
22	chr14:78350000-78355800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:78350200-78355600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr14:78350200-78355800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:78350400-78354200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr14:78350400-78354400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:78350400-78354400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:78350400-78361200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:78350600-78354800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:78350600-78365400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr14:78350800-78375800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr14:78350800-78376200	Weak transcription	Brain Angular Gyrus	brain
33	chr14:78351200-78356800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr14:78351400-78353800	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr14:78351400-78354600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr14:78352200-78353800	Weak transcription	K562	blood
37	chr14:78352200-78356400	Weak transcription	HMEC	breast
38	chr14:78352400-78354000	Strong transcription	Gastric	stomach
39	chr14:78352600-78354000	Weak transcription	Brain Hippocampus Middle	brain
40	chr14:78352600-78354400	Strong transcription	Spleen	Spleen
41	chr14:78352600-78398800	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr14:78352800-78354600	Strong transcription	Fetal Stomach	stomach
43	chr14:78352800-78355000	Strong transcription	Esophagus	oesophagus
44	chr14:78352800-78356600	Strong transcription	Primary T cells from cord blood	blood
45	chr14:78353000-78354800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr14:78353000-78356800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:78353200-78356400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr14:78353400-78353800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr14:78353400-78353800	Strong transcription	Lung	lung
50	chr14:78353400-78354000	Strong transcription	Brain Inferior Temporal Lobe	brain

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