Variant report

Variant	rs2930315
Chromosome Location	chr7:140391584-140391585
allele	A/C/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	RAD21	chr7:140391163-140391609	H1-hESC	embryonic stem cell:	n/a	chr7:140391364-140391383

No.	Distal block	Cell Line	Cell type
1	chr7:140388305..140391159-chr7:140391450..140393273,2	K562	blood:
2	chr7:140388053..140392866-chr7:140393585..140398020,10	MCF-7	breast:
3	chr7:140370608..140383131-chr7:140387718..140398587,28	MCF-7	breast:
4	chr7:140388716..140393042-chr7:140394354..140397528,10	K562	blood:

Variant related genes	Relation type
NDUFB2	TF binding region
ENSG00000133597	Chromatin interaction
ENSG00000240889	Chromatin interaction
ENSG00000146966	Chromatin interaction
ENSG00000090266	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10228254	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10230071	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10230163	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10232557	0.82[YRI][hapmap]
rs10241711	0.85[ASN][1000 genomes]
rs10258462	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10258465	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1046515	0.85[ASN][1000 genomes]
rs1140034	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12375245	0.87[ASN][1000 genomes]
rs17161666	0.83[ASN][1000 genomes]
rs17161668	0.87[ASN][1000 genomes]
rs2364395	0.94[ASN][1000 genomes]
rs2364397	0.81[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2364399	0.81[YRI][hapmap]
rs28517771	0.85[ASN][1000 genomes]
rs28533681	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2907949	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2907950	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2930318	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930319	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930320	0.82[CEU][hapmap]
rs2930325	1.00[CEU][hapmap]
rs2930328	0.82[CEU][hapmap]
rs2930329	0.82[CEU][hapmap]
rs2930331	0.89[ASN][1000 genomes]
rs2968546	1.00[CEU][hapmap]
rs2968548	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2968549	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2968550	0.81[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2968551	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2968553	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2968555	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2968558	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2968559	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4624945	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4725799	0.87[ASN][1000 genomes]
rs4727011	0.94[ASN][1000 genomes]
rs4727021	0.87[ASN][1000 genomes]
rs4727036	0.87[ASN][1000 genomes]
rs4727040	0.85[ASN][1000 genomes]
rs4727041	0.85[ASN][1000 genomes]
rs4727053	0.83[ASN][1000 genomes]
rs4727072	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6464937	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6953568	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6969779	0.83[ASN][1000 genomes]
rs6977834	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73491672	0.85[ASN][1000 genomes]
rs73505645	0.85[ASN][1000 genomes]
rs73505647	0.83[ASN][1000 genomes]
rs7792746	0.83[ASN][1000 genomes]
rs7801086	0.81[YRI][hapmap]
rs7802537	0.82[CEU][hapmap]
rs7803697	0.81[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2930315	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	chr7:140375400-140392200	Strong transcription	Primary T cells from cord blood	blood
17	chr7:140375400-140394600	Weak transcription	Osteobl	bone
18	chr7:140375400-140395400	Strong transcription	Fetal Stomach	stomach
19	chr7:140375400-140395600	Weak transcription	HMEC	breast
20	chr7:140375600-140395600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:140375600-140395600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:140375600-140395800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:140375800-140395600	Weak transcription	Fetal Brain Male	brain
24	chr7:140375800-140395800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:140375800-140395800	Weak transcription	NHDF-Ad	bronchial
26	chr7:140376000-140393200	Strong transcription	Placenta	Placenta
27	chr7:140376000-140395600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr7:140376000-140395800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr7:140376200-140393400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:140376600-140395800	Weak transcription	GM12878-XiMat	blood
31	chr7:140376800-140395600	Strong transcription	Fetal Intestine Small	intestine
32	chr7:140377400-140392800	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr7:140377400-140394400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:140377600-140393200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:140377800-140391800	Strong transcription	Spleen	Spleen
36	chr7:140377800-140394800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:140377800-140394800	Strong transcription	Thymus	Thymus
38	chr7:140378000-140392200	Strong transcription	Lung	lung
39	chr7:140378400-140392600	Strong transcription	Adipose Nuclei	Adipose
40	chr7:140379000-140395800	Weak transcription	HepG2	liver
41	chr7:140379200-140395600	Weak transcription	Hela-S3	cervix
42	chr7:140381000-140395600	Weak transcription	K562	blood
43	chr7:140381000-140395800	Weak transcription	Colon Smooth Muscle	Colon
44	chr7:140382800-140392400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr7:140383000-140393400	Strong transcription	Duodenum Mucosa	Duodenum
46	chr7:140383400-140392000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:140383400-140392400	Strong transcription	Fetal Intestine Large	intestine
48	chr7:140383400-140395800	Weak transcription	HSMM	muscle
49	chr7:140383800-140391800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:140383800-140393400	Strong transcription	Fetal Brain Female	brain

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