Variant report

Variant	rs7040854
Chromosome Location	chr9:14295808-14295809
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:14294281..14298391-chr9:14301085..14303550,3	K562	blood:
2	chr2:163437776..163440396-chr9:14294366..14296651,2	MCF-7	breast:
3	chr9:14293333..14295962-chr9:14312739..14316164,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147862	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10756545	1.00[AMR][1000 genomes]
rs16931356	1.00[MEX][hapmap]
rs1998441	1.00[AMR][1000 genomes]
rs7018727	1.00[MEX][hapmap]
rs932689	1.00[AMR][1000 genomes]

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	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv916811	chr9:14210978-14542068	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv831516	chr9:14280695-14437445	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7040854	HEBP2	trans	lymphoblastoid	seeQTL

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14271200-14306800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:14272200-14296800	Weak transcription	Hela-S3	cervix
3	chr9:14282000-14296000	Weak transcription	Brain Germinal Matrix	brain
4	chr9:14282800-14296400	Weak transcription	HMEC	breast
5	chr9:14283600-14297000	Weak transcription	HSMM	muscle
6	chr9:14283600-14298400	Weak transcription	Ovary	ovary
7	chr9:14283800-14296400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr9:14283800-14296600	Weak transcription	Brain Angular Gyrus	brain
9	chr9:14283800-14301600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr9:14284000-14296400	Weak transcription	Brain Substantia Nigra	brain
11	chr9:14284200-14298600	Weak transcription	Fetal Stomach	stomach
12	chr9:14284200-14301800	Weak transcription	Osteobl	bone
13	chr9:14286200-14296400	Weak transcription	Right Atrium	heart
14	chr9:14287000-14300200	Weak transcription	Right Ventricle	heart
15	chr9:14292600-14300000	Weak transcription	NHLF	lung
16	chr9:14292800-14296800	Weak transcription	Aorta	Aorta
17	chr9:14293400-14296400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr9:14293600-14297000	Weak transcription	Small Intestine	intestine
19	chr9:14294200-14296200	Active TSS	Fetal Brain Female	brain
20	chr9:14294200-14296400	Weak transcription	Fetal Heart	heart
21	chr9:14294200-14298400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr9:14294400-14296400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr9:14294400-14296800	Weak transcription	Stomach Mucosa	stomach
24	chr9:14294400-14297200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr9:14294800-14296400	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr9:14294800-14296400	Strong transcription	Fetal Muscle Leg	muscle
27	chr9:14294800-14296600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr9:14294800-14296600	Strong transcription	HUVEC	blood vessel
29	chr9:14294800-14296800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr9:14294800-14297000	Weak transcription	Adipose Nuclei	Adipose
31	chr9:14295000-14296000	Weak transcription	Fetal Lung	lung
32	chr9:14295000-14296200	Weak transcription	Colon Smooth Muscle	Colon
33	chr9:14295000-14296800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr9:14295000-14297000	Weak transcription	A549	lung
35	chr9:14295000-14298600	Weak transcription	Fetal Intestine Small	intestine
36	chr9:14295000-14300000	Weak transcription	Fetal Intestine Large	intestine
37	chr9:14295200-14296400	Weak transcription	NHEK	skin
38	chr9:14295200-14296600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr9:14295200-14297200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr9:14295400-14296200	Weak transcription	Fetal Brain Male	brain
41	chr9:14295600-14296000	Flanking Active TSS	Liver	Liver
42	chr9:14295600-14296400	Weak transcription	Left Ventricle	heart
43	chr9:14295600-14296800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr9:14295600-14297000	Strong transcription	Fetal Muscle Trunk	muscle
45	chr9:14295600-14297000	Weak transcription	Pancreas	Pancrea
46	chr9:14295600-14297000	Weak transcription	Psoas Muscle	Psoas
47	chr9:14295600-14302600	Weak transcription	Lung	lung
48	chr9:14295800-14296600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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