Variant report

Variant	rs12328303
Chromosome Location	chr2:86858817-86858818
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86858001..86860361-chr2:86914805..86916543,2	MCF-7	breast:
2	chr2:86855492..86857596-chr2:86858665..86860258,2	MCF-7	breast:
3	chr2:86667556..86669335-chr2:86857955..86860721,2	MCF-7	breast:
4	chr2:86857823..86859880-chr2:86861018..86863511,2	MCF-7	breast:
5	chr2:86856951..86859444-chr2:86896714..86898569,2	MCF-7	breast:
6	chr2:86857369..86860425-chr2:86900280..86904256,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115548	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12468191	0.84[EUR][1000 genomes]
rs12471953	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13387655	0.81[AMR][1000 genomes]
rs13402276	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55708554	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1011590	chr2:86824181-86906114	Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86851000-86860400	Weak transcription	Lung	lung
2	chr2:86851200-86860400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:86851800-86860000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:86851800-86860400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:86852800-86859000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:86853000-86859000	Weak transcription	Brain Angular Gyrus	brain
7	chr2:86853000-86859400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:86853000-86859600	Weak transcription	Brain Substantia Nigra	brain
9	chr2:86853000-86860400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:86853200-86860000	Weak transcription	Brain Anterior Caudate	brain
11	chr2:86855800-86859000	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:86856000-86860200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:86856600-86860400	Weak transcription	Psoas Muscle	Psoas
14	chr2:86857200-86859000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:86858400-86859200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:86858400-86859800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr2:86858400-86860600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:86858400-86860800	Enhancers	Fetal Intestine Large	intestine
19	chr2:86858600-86859000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:86858600-86859000	Active TSS	Rectal Smooth Muscle	rectum
21	chr2:86858600-86859000	Active TSS	Stomach Mucosa	stomach
22	chr2:86858600-86859200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:86858600-86859200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr2:86858600-86859200	Enhancers	Esophagus	oesophagus
25	chr2:86858600-86859200	Enhancers	Gastric	stomach
26	chr2:86858600-86859200	Enhancers	Left Ventricle	heart
27	chr2:86858600-86859200	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr2:86858600-86859400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:86858600-86859400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:86858600-86859400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:86858600-86859400	Enhancers	HMEC	breast
32	chr2:86858600-86859400	Flanking Active TSS	NHEK	skin
33	chr2:86858600-86859600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr2:86858600-86859600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr2:86858600-86859600	Enhancers	Pancreas	Pancrea
36	chr2:86858600-86859600	Enhancers	HUVEC	blood vessel
37	chr2:86858600-86860200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr2:86858600-86860400	Enhancers	Placenta	Placenta
39	chr2:86858600-86860800	Flanking Active TSS	HepG2	liver
40	chr2:86858600-86861000	Enhancers	Primary hematopoietic stem cells	blood
41	chr2:86858600-86861200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr2:86858600-86861200	Enhancers	Brain Germinal Matrix	brain
43	chr2:86858600-86861400	Enhancers	Fetal Muscle Leg	muscle
44	chr2:86858800-86859000	Active TSS	Liver	Liver
45	chr2:86858800-86859000	Enhancers	Duodenum Mucosa	Duodenum
46	chr2:86858800-86859000	Enhancers	Small Intestine	intestine
47	chr2:86858800-86859400	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr2:86858800-86859400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:86858800-86859600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr2:86858800-86859600	Active TSS	Colonic Mucosa	Colon

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