Variant report

Variant	rs2968551
Chromosome Location	chr7:140393595-140393596
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:140393412-140393619	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:140370275..140375389-chr7:140393210..140401279,16	MCF-7	breast:
2	chr7:140380302..140383291-chr7:140393450..140394959,2	K562	blood:
3	chr7:140370608..140383131-chr7:140387718..140398587,28	MCF-7	breast:
4	chr7:140388053..140392866-chr7:140393585..140398020,10	MCF-7	breast:

Variant related genes	Relation type
NDUFB2	TF binding region
ENSG00000090266	Chromatin interaction
ENSG00000133597	Chromatin interaction
ENSG00000146966	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10228254	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10230071	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10230163	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10241711	0.87[ASN][1000 genomes]
rs10258462	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10258465	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1046515	0.87[ASN][1000 genomes]
rs1140034	0.92[ASN][1000 genomes]
rs12375245	0.85[ASN][1000 genomes]
rs17161666	0.85[ASN][1000 genomes]
rs17161668	0.85[ASN][1000 genomes]
rs2364395	0.92[ASN][1000 genomes]
rs2364397	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28517771	0.83[ASN][1000 genomes]
rs28533681	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2907949	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2907950	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2930315	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2930318	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2930319	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2930331	0.87[ASN][1000 genomes]
rs2968548	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2968549	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2968550	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2968553	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2968555	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2968558	0.92[ASN][1000 genomes]
rs2968559	0.92[ASN][1000 genomes]
rs4624945	0.92[ASN][1000 genomes]
rs4725799	0.85[ASN][1000 genomes]
rs4727011	0.92[ASN][1000 genomes]
rs4727021	0.85[ASN][1000 genomes]
rs4727036	0.85[ASN][1000 genomes]
rs4727040	0.87[ASN][1000 genomes]
rs4727041	0.87[ASN][1000 genomes]
rs4727053	0.85[ASN][1000 genomes]
rs4727072	0.86[EUR][1000 genomes]
rs6464937	0.92[ASN][1000 genomes]
rs6953568	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6969779	0.85[ASN][1000 genomes]
rs6977834	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73491672	0.83[ASN][1000 genomes]
rs73505645	0.83[ASN][1000 genomes]
rs73505647	0.81[ASN][1000 genomes]
rs7792746	0.81[ASN][1000 genomes]
rs7803697	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831157	chr7:140241339-140426876	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv3351231	chr7:140390303-140588539	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv831158	chr7:140392222-140602315	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2968551	NDUFB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140373800-140395600	Weak transcription	NH-A	brain
2	chr7:140373800-140395800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:140373800-140396000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:140374000-140395800	Weak transcription	Fetal Lung	lung
5	chr7:140374000-140395800	Weak transcription	Right Atrium	heart
6	chr7:140374200-140395800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:140374200-140396000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:140374200-140396000	Weak transcription	Psoas Muscle	Psoas
9	chr7:140374400-140395600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:140374400-140396200	Weak transcription	Small Intestine	intestine
11	chr7:140374600-140395600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr7:140374600-140395600	Weak transcription	A549	lung
13	chr7:140374600-140395800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr7:140374600-140395800	Weak transcription	Fetal Kidney	kidney
15	chr7:140374800-140395800	Weak transcription	Stomach Mucosa	stomach
16	chr7:140375400-140394600	Weak transcription	Osteobl	bone
17	chr7:140375400-140395400	Strong transcription	Fetal Stomach	stomach
18	chr7:140375400-140395600	Weak transcription	HMEC	breast
19	chr7:140375600-140395600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:140375600-140395600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:140375600-140395800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr7:140375800-140395600	Weak transcription	Fetal Brain Male	brain
23	chr7:140375800-140395800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:140375800-140395800	Weak transcription	NHDF-Ad	bronchial
25	chr7:140376000-140395600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr7:140376000-140395800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr7:140376600-140395800	Weak transcription	GM12878-XiMat	blood
28	chr7:140376800-140395600	Strong transcription	Fetal Intestine Small	intestine
29	chr7:140377400-140394400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr7:140377800-140394800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:140377800-140394800	Strong transcription	Thymus	Thymus
32	chr7:140379000-140395800	Weak transcription	HepG2	liver
33	chr7:140379200-140395600	Weak transcription	Hela-S3	cervix
34	chr7:140381000-140395600	Weak transcription	K562	blood
35	chr7:140381000-140395800	Weak transcription	Colon Smooth Muscle	Colon
36	chr7:140383400-140395800	Weak transcription	HSMM	muscle
37	chr7:140383800-140396000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr7:140383800-140396400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:140384200-140395800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:140384200-140395800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr7:140384200-140396200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:140384400-140395800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:140384400-140395800	Weak transcription	HSMMtube	muscle
44	chr7:140384600-140395600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:140385600-140395800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:140386000-140395600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr7:140388200-140394800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:140389800-140395600	Weak transcription	Brain Substantia Nigra	brain
49	chr7:140389800-140395800	Weak transcription	Colonic Mucosa	Colon
50	chr7:140389800-140395800	Weak transcription	Pancreas	Pancrea

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