Variant report

Variant	rs2968555
Chromosome Location	chr7:140379261-140379262
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:140370608..140383131-chr7:140387718..140398587,28	MCF-7	breast:
2	chr7:140371193..140374993-chr7:140376654..140380151,6	MCF-7	breast:
3	chr7:140378195..140380507-chr7:140394973..140398117,3	K562	blood:
4	chr7:140371506..140376729-chr7:140377280..140380130,6	K562	blood:

Variant related genes	Relation type
ENSG00000090266	Chromatin interaction
ENSG00000133597	Chromatin interaction
ENSG00000240889	Chromatin interaction
ENSG00000146966	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10228254	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10230071	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10230163	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10241711	0.83[ASN][1000 genomes]
rs10258462	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10258465	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1046515	0.83[ASN][1000 genomes]
rs1140034	0.96[ASN][1000 genomes]
rs12375245	0.85[ASN][1000 genomes]
rs17161666	0.81[ASN][1000 genomes]
rs17161668	0.85[ASN][1000 genomes]
rs2364393	0.81[ASN][1000 genomes]
rs2364394	0.81[ASN][1000 genomes]
rs2364395	0.96[ASN][1000 genomes]
rs2364397	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28517771	0.87[ASN][1000 genomes]
rs28533681	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2907949	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2907950	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2930315	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2930318	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2930319	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2930331	0.91[ASN][1000 genomes]
rs2968548	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2968549	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2968550	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2968551	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2968553	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2968558	0.96[ASN][1000 genomes]
rs2968559	0.96[ASN][1000 genomes]
rs4624945	0.96[ASN][1000 genomes]
rs4725799	0.85[ASN][1000 genomes]
rs4727011	0.96[ASN][1000 genomes]
rs4727021	0.85[ASN][1000 genomes]
rs4727036	0.85[ASN][1000 genomes]
rs4727040	0.83[ASN][1000 genomes]
rs4727041	0.83[ASN][1000 genomes]
rs4727053	0.81[ASN][1000 genomes]
rs4727072	0.83[EUR][1000 genomes]
rs6464937	0.96[ASN][1000 genomes]
rs6953568	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6969779	0.81[ASN][1000 genomes]
rs6977834	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73491672	0.83[ASN][1000 genomes]
rs73505645	0.87[ASN][1000 genomes]
rs73505647	0.85[ASN][1000 genomes]
rs7792746	0.85[ASN][1000 genomes]
rs7794857	0.81[ASN][1000 genomes]
rs7803697	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2968555	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	chr7:140373400-140383200	Weak transcription	HSMMtube	muscle
2	chr7:140373600-140385400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:140373800-140380200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:140373800-140395600	Weak transcription	NH-A	brain
5	chr7:140373800-140395800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:140373800-140396000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr7:140374000-140395800	Weak transcription	Fetal Lung	lung
8	chr7:140374000-140395800	Weak transcription	Right Atrium	heart
9	chr7:140374200-140395800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr7:140374200-140396000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:140374200-140396000	Weak transcription	Psoas Muscle	Psoas
12	chr7:140374400-140395600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:140374400-140396200	Weak transcription	Small Intestine	intestine
14	chr7:140374600-140380000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:140374600-140383200	Weak transcription	HUVEC	blood vessel
16	chr7:140374600-140395600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:140374600-140395600	Weak transcription	A549	lung
18	chr7:140374600-140395800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr7:140374600-140395800	Weak transcription	Fetal Kidney	kidney
20	chr7:140374800-140383200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:140374800-140383600	Weak transcription	Fetal Heart	heart
22	chr7:140374800-140395800	Weak transcription	Stomach Mucosa	stomach
23	chr7:140375000-140385000	Strong transcription	Fetal Muscle Trunk	muscle
24	chr7:140375400-140380200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:140375400-140392200	Strong transcription	Primary T cells from cord blood	blood
26	chr7:140375400-140394600	Weak transcription	Osteobl	bone
27	chr7:140375400-140395400	Strong transcription	Fetal Stomach	stomach
28	chr7:140375400-140395600	Weak transcription	HMEC	breast
29	chr7:140375600-140380400	Weak transcription	K562	blood
30	chr7:140375600-140383200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr7:140375600-140383200	Strong transcription	Fetal Muscle Leg	muscle
32	chr7:140375600-140395600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:140375600-140395600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr7:140375600-140395800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr7:140375800-140383200	Strong transcription	Brain Anterior Caudate	brain
36	chr7:140375800-140390200	Strong transcription	Fetal Thymus	thymus
37	chr7:140375800-140395600	Weak transcription	Fetal Brain Male	brain
38	chr7:140375800-140395800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr7:140375800-140395800	Weak transcription	NHDF-Ad	bronchial
40	chr7:140376000-140380600	Weak transcription	Colon Smooth Muscle	Colon
41	chr7:140376000-140393200	Strong transcription	Placenta	Placenta
42	chr7:140376000-140395600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr7:140376000-140395800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr7:140376200-140380200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr7:140376200-140382400	Strong transcription	Brain Hippocampus Middle	brain
46	chr7:140376200-140393400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:140376400-140390200	Strong transcription	Dnd41	blood
48	chr7:140376600-140390200	Strong transcription	Stomach Smooth Muscle	stomach
49	chr7:140376600-140395800	Weak transcription	GM12878-XiMat	blood
50	chr7:140376800-140395600	Strong transcription	Fetal Intestine Small	intestine

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