Variant report

Variant	rs692155
Chromosome Location	chr15:41407061-41407062
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:41404323..41407208-chr15:41574690..41577351,2	K562	blood:
2	chr15:41406758..41409601-chr15:41707795..41710639,2	MCF-7	breast:
3	chr15:41406937..41409542-chr15:41521164..41524731,5	K562	blood:
4	chr15:41406745..41409392-chr15:41623521..41626579,5	K562	blood:
5	chr15:41056057..41058777-chr15:41406413..41409021,2	K562	blood:
6	chr15:40875804..40877878-chr15:41405943..41408049,2	K562	blood:
7	chr15:41220723..41224054-chr15:41406979..41409349,3	K562	blood:
8	chr15:41406809..41409126-chr15:41623521..41625356,3	K562	blood:
9	chr15:41396638..41398634-chr15:41406036..41407580,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000178997	Chromatin interaction
ENSG00000247556	Chromatin interaction
ENSG00000137804	Chromatin interaction
ENSG00000128917	Chromatin interaction
ENSG00000187446	Chromatin interaction
ENSG00000137815	Chromatin interaction
ENSG00000137880	Chromatin interaction
ENSG00000104147	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1001341	0.92[CEU][hapmap];0.85[CHB][hapmap]
rs1009913	0.92[CEU][hapmap];0.85[CHB][hapmap];0.90[EUR][1000 genomes]
rs11070315	0.92[CEU][hapmap]
rs11854472	0.88[EUR][1000 genomes]
rs11855248	0.96[CEU][hapmap];0.85[CHB][hapmap]
rs11856572	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11856577	0.85[EUR][1000 genomes]
rs11856848	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs1678750	1.00[CEU][hapmap];0.85[CHB][hapmap];0.80[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1717200	0.92[EUR][1000 genomes]
rs1869907	0.92[CEU][hapmap];0.85[CHB][hapmap]
rs1962410	0.86[EUR][1000 genomes]
rs2176998	0.95[EUR][1000 genomes]
rs2306083	0.96[CEU][hapmap];0.85[CHB][hapmap];0.88[EUR][1000 genomes]
rs2412601	0.90[EUR][1000 genomes]
rs28455998	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28581803	0.88[EUR][1000 genomes]
rs28729675	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28866311	0.91[EUR][1000 genomes]
rs2899002	0.92[CEU][hapmap]
rs2925345	0.96[CEU][hapmap]
rs2925346	0.81[EUR][1000 genomes]
rs2927061	0.96[CEU][hapmap];0.85[CHB][hapmap]
rs2927062	0.96[CEU][hapmap];0.85[CHB][hapmap];0.89[YRI][hapmap]
rs2928148	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2947493	0.83[AFR][1000 genomes]
rs2947494	0.81[AFR][1000 genomes]
rs3100807	0.91[CEU][hapmap];0.84[CHB][hapmap]
rs3101436	0.96[CEU][hapmap];0.85[CHB][hapmap]
rs3101442	0.89[EUR][1000 genomes]
rs3214068	0.92[CEU][hapmap];0.85[CHB][hapmap]
rs3900905	0.91[CEU][hapmap];0.82[CHB][hapmap]
rs476633	0.85[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs516156	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs544744	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs57393155	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6492982	0.81[AFR][1000 genomes]
rs66818965	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs691830	0.92[EUR][1000 genomes]
rs692153	0.84[CEU][hapmap];0.80[CHB][hapmap]
rs7169375	0.96[CEU][hapmap];0.85[CHB][hapmap]
rs7179681	0.88[EUR][1000 genomes]
rs7181816	0.88[EUR][1000 genomes]
rs72737704	0.82[EUR][1000 genomes]
rs8023345	0.81[EUR][1000 genomes]
rs8037837	0.91[EUR][1000 genomes]
rs8042088	0.88[EUR][1000 genomes]
rs9796	0.88[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569229	chr15:41361138-41483682	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv904107	chr15:41361138-41493013	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv569230	chr15:41384649-41483682	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv904108	chr15:41384649-41486990	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs692155	NDUFAF1	Cis_1M	lymphoblastoid	RTeQTL
rs692155	NDUFAF1	cis	Muscle Skeletal	GTEx
rs692155	OIP5-AS1	cis	Artery Tibial	GTEx
rs692155	NDUFAF1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41361200-41407200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:41383800-41407400	Weak transcription	Esophagus	oesophagus
3	chr15:41384000-41407400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:41384400-41407400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:41386200-41407400	Weak transcription	Aorta	Aorta
6	chr15:41386600-41407400	Weak transcription	Colonic Mucosa	Colon
7	chr15:41386800-41407200	Weak transcription	HSMMtube	muscle
8	chr15:41386800-41407400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:41387400-41407200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr15:41388600-41407200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr15:41388600-41407200	Weak transcription	Brain Anterior Caudate	brain
12	chr15:41388600-41407400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr15:41391000-41407400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr15:41395600-41407200	Weak transcription	HSMM	muscle
15	chr15:41398600-41407200	Weak transcription	Small Intestine	intestine
16	chr15:41398800-41407200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr15:41398800-41407200	Weak transcription	Left Ventricle	heart
18	chr15:41398800-41407400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr15:41398800-41407400	Weak transcription	Lung	lung
20	chr15:41400600-41407400	Weak transcription	Gastric	stomach
21	chr15:41401200-41407200	Weak transcription	Brain Germinal Matrix	brain
22	chr15:41402800-41407200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr15:41402800-41407200	Weak transcription	Thymus	Thymus
24	chr15:41405400-41407600	Enhancers	Spleen	Spleen
25	chr15:41405600-41407200	Enhancers	Primary T cells fromperipheralblood	blood
26	chr15:41405800-41407200	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr15:41406000-41407200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr15:41406000-41407200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr15:41406000-41407200	Enhancers	Fetal Muscle Trunk	muscle
30	chr15:41406200-41407200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr15:41406200-41407200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr15:41406200-41407200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr15:41406400-41407200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr15:41406400-41407200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr15:41406400-41409200	Active TSS	GM12878-XiMat	blood
36	chr15:41406600-41407200	Enhancers	Primary B cells from peripheral blood	blood
37	chr15:41406600-41407200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr15:41406600-41407200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr15:41406600-41407200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr15:41406600-41407200	Enhancers	Brain Substantia Nigra	brain
41	chr15:41406600-41407200	Enhancers	Fetal Muscle Leg	muscle
42	chr15:41406600-41407200	Enhancers	Fetal Thymus	thymus
43	chr15:41406600-41407200	Enhancers	Ovary	ovary
44	chr15:41406600-41407200	Enhancers	Pancreas	Pancrea
45	chr15:41406600-41407200	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr15:41406600-41407200	Flanking Active TSS	Hela-S3	cervix
47	chr15:41406600-41407400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr15:41406600-41407400	Enhancers	Fetal Heart	heart
49	chr15:41406600-41408000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr15:41406600-41409400	Active TSS	H9 Cell Line	embryonic stem cell

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