Variant report

Variant	rs7486601
Chromosome Location	chr12:118513309-118513310
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118500122..118501653-chr12:118512160..118515030,2	K562	blood:

Variant related genes	Relation type
ENSG00000176871	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11610878	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11613924	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12809627	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35298010	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7489079	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9668653	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9669474	0.81[AMR][1000 genomes];0.99[EUR][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	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv560389	chr12:118502467-118564087	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118500400-118515400	Weak transcription	Gastric	stomach
2	chr12:118500400-118516800	Weak transcription	Spleen	Spleen
3	chr12:118500600-118535200	Weak transcription	Brain Substantia Nigra	brain
4	chr12:118500800-118515400	Weak transcription	Esophagus	oesophagus
5	chr12:118500800-118518200	Weak transcription	Left Ventricle	heart
6	chr12:118500800-118526400	Weak transcription	HMEC	breast
7	chr12:118500800-118539600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:118500800-118539800	Weak transcription	Right Ventricle	heart
9	chr12:118500800-118540800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:118501000-118514400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:118501000-118515000	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:118501000-118515200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:118501000-118515400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:118501000-118515400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:118501000-118516400	Weak transcription	Colonic Mucosa	Colon
16	chr12:118501000-118517200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:118501000-118525600	Weak transcription	Fetal Brain Female	brain
18	chr12:118501000-118527400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr12:118501000-118530600	Weak transcription	Brain Angular Gyrus	brain
20	chr12:118501000-118533800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:118501000-118539600	Weak transcription	Psoas Muscle	Psoas
22	chr12:118501000-118540200	Weak transcription	HUVEC	blood vessel
23	chr12:118501000-118540800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr12:118501000-118540800	Weak transcription	NH-A	brain
25	chr12:118501200-118514400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:118501200-118515400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:118501200-118516200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:118501200-118526400	Weak transcription	Small Intestine	intestine
29	chr12:118501200-118536000	Weak transcription	Right Atrium	heart
30	chr12:118501200-118540400	Weak transcription	Brain Germinal Matrix	brain
31	chr12:118501200-118540800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr12:118501200-118541000	Weak transcription	Aorta	Aorta
33	chr12:118501600-118519800	Weak transcription	Fetal Brain Male	brain
34	chr12:118501600-118540400	Weak transcription	NHLF	lung
35	chr12:118501800-118527000	Weak transcription	NHEK	skin
36	chr12:118501800-118533200	Weak transcription	Hela-S3	cervix
37	chr12:118502000-118515400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:118502000-118515600	Weak transcription	Colon Smooth Muscle	Colon
39	chr12:118502200-118515200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:118502200-118540800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:118502200-118540800	Weak transcription	Brain Anterior Caudate	brain
42	chr12:118502400-118515400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:118502600-118515200	Weak transcription	Liver	Liver
44	chr12:118502600-118536200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr12:118502800-118514200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:118503200-118519200	Weak transcription	HepG2	liver
47	chr12:118503200-118521800	Weak transcription	Stomach Mucosa	stomach
48	chr12:118503600-118520600	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr12:118504000-118513600	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr12:118504000-118514600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links