Variant report

Variant	rs6894118
Chromosome Location	chr5:5432892-5432893
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:5426787..5429141-chr5:5430584..5433274,3	K562	blood:
2	chr5:5430679..5433262-chr5:5446134..5448156,2	K562	blood:
3	chr5:5422448..5424386-chr5:5430615..5434524,3	MCF-7	breast:
4	chr5:5432770..5434615-chr5:5437929..5440317,2	K562	blood:

Variant related genes	Relation type
ENSG00000164151	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1004263	0.80[EUR][1000 genomes]
rs10063885	0.84[EUR][1000 genomes]
rs1115068	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12653733	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1541799	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2560297	0.82[EUR][1000 genomes]
rs2560298	0.80[EUR][1000 genomes]
rs2560299	0.82[EUR][1000 genomes]
rs2560300	0.83[EUR][1000 genomes]
rs2578500	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2578501	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2578548	0.86[EUR][1000 genomes]
rs2578549	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs2578550	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2578552	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2578553	0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs2578554	0.83[EUR][1000 genomes]
rs2578556	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2578557	0.83[EUR][1000 genomes]
rs2578558	0.81[EUR][1000 genomes]
rs2578559	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2578564	0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs2578565	0.93[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap]
rs2619827	0.90[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2619844	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2918253	0.82[EUR][1000 genomes]
rs2918260	0.83[EUR][1000 genomes]
rs2918261	0.95[CEU][hapmap];0.85[GIH][hapmap];0.82[MKK][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs2964131	0.81[EUR][1000 genomes]
rs2964155	0.95[AFR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2964159	0.92[ASW][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2964160	0.83[EUR][1000 genomes]
rs3097160	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs3098377	0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs61063822	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[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	nsv1021802	chr5:5415877-5452886	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6894118	NDUFS6	cis	cerebellum	SCAN

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5424400-5433000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:5424400-5433000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:5424400-5436800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr5:5424400-5437200	Weak transcription	Fetal Thymus	thymus
5	chr5:5424400-5437400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:5424400-5437600	Weak transcription	Placenta	Placenta
7	chr5:5424800-5436600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:5424800-5437600	Weak transcription	Fetal Kidney	kidney
9	chr5:5425000-5436600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:5425000-5436600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:5425000-5437200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:5425000-5437200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr5:5425000-5437600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:5425000-5437800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr5:5425000-5443600	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:5425200-5433000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:5425200-5434800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr5:5425200-5436800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:5425200-5439000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr5:5425200-5443200	Weak transcription	Fetal Brain Male	brain
21	chr5:5425200-5443600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr5:5425200-5443600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:5425200-5443600	Weak transcription	Pancreas	Pancrea
24	chr5:5425200-5443800	Weak transcription	Esophagus	oesophagus
25	chr5:5425400-5434200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr5:5425400-5436600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:5425400-5441400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr5:5425400-5443600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:5425400-5443800	Weak transcription	Colonic Mucosa	Colon
30	chr5:5425600-5437200	Weak transcription	Fetal Lung	lung
31	chr5:5425600-5440800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:5425600-5443400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr5:5425600-5443400	Weak transcription	Brain Germinal Matrix	brain
34	chr5:5425600-5443600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr5:5425600-5443600	Weak transcription	Thymus	Thymus
36	chr5:5425800-5443200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr5:5426000-5443200	Weak transcription	Brain Anterior Caudate	brain
38	chr5:5426200-5436600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr5:5426200-5437200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr5:5427400-5436600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr5:5427400-5436600	Weak transcription	Dnd41	blood
42	chr5:5428000-5444800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr5:5428400-5433000	Weak transcription	GM12878-XiMat	blood
44	chr5:5428400-5434000	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr5:5428400-5443600	Weak transcription	Right Ventricle	heart
46	chr5:5428600-5437200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:5428600-5437400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:5429200-5434000	Enhancers	Ovary	ovary
49	chr5:5429200-5437600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:5429400-5436600	Weak transcription	Monocytes-CD14+_RO01746	blood

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