Variant report

Variant	rs9920619
Chromosome Location	chr15:41318845-41318846
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	chr15:41309360..41312229-chr15:41317584..41319591,2	K562	blood:
2	chr15:41310991..41312633-chr15:41317212..41318935,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11070315	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11070318	0.93[ASN][1000 genomes]
rs12912887	0.92[CHB][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs1869908	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2305656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28473405	0.90[CEU][hapmap]
rs28538500	0.81[ASN][1000 genomes]
rs2899002	0.84[JPT][hapmap]
rs2925343	0.95[CEU][hapmap];0.84[AMR][1000 genomes]
rs72735675	0.83[ASN][1000 genomes]
rs8025660	0.88[JPT][hapmap]
rs9796	1.00[JPT][hapmap]

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	nsv1053462	chr15:41270067-41396094	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs9920619	OIP5-AS1	cis	Artery Tibial	GTEx
rs9920619	NDUFAF1	cis	Esophagus Muscularis	GTEx
rs9920619	NDUFAF1	Cis_1M	lymphoblastoid	RTeQTL
rs9920619	NDUFAF1	cis	Heart Left Ventricle	GTEx
rs9920619	NDUFAF1	cis	Muscle Skeletal	GTEx
rs9920619	LOC729082	Cis_1M	lymphoblastoid	RTeQTL
rs9920619	NDUFAF1	cis	multi-tissue	Pritchard

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41258800-41348400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:41276600-41354600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:41280400-41339800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:41300200-41322400	Strong transcription	Primary T cells from cord blood	blood
5	chr15:41303200-41320200	Strong transcription	Hela-S3	cervix
6	chr15:41303400-41321800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr15:41303400-41323400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:41304800-41322200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:41306000-41322200	Strong transcription	Fetal Thymus	thymus
10	chr15:41306800-41338800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr15:41307600-41335000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr15:41308800-41331200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr15:41308800-41337000	Weak transcription	Colonic Mucosa	Colon
14	chr15:41309000-41339200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr15:41309400-41332600	Weak transcription	Gastric	stomach
16	chr15:41310000-41333200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr15:41310000-41333400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr15:41310200-41322400	Strong transcription	Duodenum Mucosa	Duodenum
19	chr15:41311000-41319000	Weak transcription	Psoas Muscle	Psoas
20	chr15:41311000-41322200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr15:41311000-41328800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr15:41311200-41320000	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr15:41311400-41335400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr15:41312800-41319000	Weak transcription	Spleen	Spleen
25	chr15:41313200-41319200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr15:41313400-41319000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr15:41313400-41319200	Weak transcription	Esophagus	oesophagus
28	chr15:41313400-41332800	Weak transcription	Brain Angular Gyrus	brain
29	chr15:41313400-41333200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:41313400-41336000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr15:41313400-41336200	Weak transcription	Brain Substantia Nigra	brain
32	chr15:41314000-41319000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr15:41314000-41333000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr15:41314000-41335600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr15:41314600-41323800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr15:41314800-41331800	Weak transcription	Fetal Brain Male	brain
37	chr15:41315000-41320400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr15:41315000-41322400	Strong transcription	Liver	Liver
39	chr15:41315000-41325200	Weak transcription	NHEK	skin
40	chr15:41315200-41319400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr15:41315600-41320200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr15:41316000-41319800	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr15:41316000-41320000	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr15:41316000-41320000	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr15:41316000-41323600	Strong transcription	Primary B cells from peripheral blood	blood
46	chr15:41316200-41320200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr15:41316400-41319800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr15:41316400-41319800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr15:41316400-41319800	Strong transcription	Brain Hippocampus Middle	brain
50	chr15:41316400-41320000	Strong transcription	Dnd41	blood

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