Variant report

Variant	rs7514180
Chromosome Location	chr1:78460935-78460936
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:78460274..78462084-chr1:78542241..78544116,2	MCF-7	breast:
2	chr1:78443179..78446680-chr1:78459475..78463180,4	MCF-7	breast:
3	chr1:78443500..78446185-chr1:78458187..78461123,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162613	Chromatin interaction
ENSG00000137960	Chromatin interaction
ENSG00000162616	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11162408	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1166698	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6424659	0.85[ASN][1000 genomes]
rs6699769	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6702939	0.85[ASN][1000 genomes]
rs72933892	0.85[AFR][1000 genomes]
rs7537908	0.81[AMR][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	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7514180	NEXN	Cis_1M	lymphoblastoid	RTeQTL
rs7514180	NEXN	cis	multi-tissue	Pritchard
rs7514180	DNAJB4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78446000-78461000	Weak transcription	Placenta	Placenta
2	chr1:78446200-78461200	Weak transcription	Fetal Stomach	stomach
3	chr1:78446200-78469600	Weak transcription	Thymus	Thymus
4	chr1:78446400-78469800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr1:78446400-78470200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:78446600-78461200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr1:78446600-78468000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:78446600-78468400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:78446600-78468800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:78446600-78468800	Weak transcription	Adipose Nuclei	Adipose
11	chr1:78446600-78468800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr1:78446600-78469000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:78446600-78469000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:78446600-78469000	Weak transcription	Fetal Kidney	kidney
15	chr1:78446600-78469600	Weak transcription	Aorta	Aorta
16	chr1:78446600-78469800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:78446600-78470200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:78446600-78470400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:78446800-78468000	Weak transcription	Fetal Lung	lung
20	chr1:78447000-78467800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:78447200-78461000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:78447200-78463600	Weak transcription	Lung	lung
23	chr1:78447400-78465800	Weak transcription	Hela-S3	cervix
24	chr1:78447600-78469800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr1:78447600-78470200	Weak transcription	Fetal Brain Male	brain
26	chr1:78447800-78469600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:78448000-78467800	Weak transcription	Dnd41	blood
28	chr1:78448000-78467800	Weak transcription	HUVEC	blood vessel
29	chr1:78448000-78468800	Weak transcription	Brain Hippocampus Middle	brain
30	chr1:78448600-78465400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:78448800-78488200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:78449800-78461000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:78450200-78461200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:78450200-78469600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:78450200-78469600	Weak transcription	Fetal Intestine Large	intestine
36	chr1:78451000-78468400	Weak transcription	Brain Anterior Caudate	brain
37	chr1:78451800-78468400	Weak transcription	HSMMtube	muscle
38	chr1:78452200-78461000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:78452200-78465800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:78452400-78468800	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr1:78452400-78468800	Weak transcription	Colon Smooth Muscle	Colon
42	chr1:78452800-78466000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr1:78452800-78466000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:78452800-78468400	Weak transcription	K562	blood
45	chr1:78452800-78468800	Weak transcription	NH-A	brain
46	chr1:78452800-78470400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr1:78452800-78478800	Weak transcription	Spleen	Spleen
48	chr1:78453000-78466000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:78453000-78469600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:78453800-78462800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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