Variant report

Variant	rs12316982
Chromosome Location	chr12:106506448-106506449
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:106499591..106503536-chr12:106504416..106508585,6	MCF-7	breast:
2	chr12:106506182..106509109-chr12:106524613..106526452,2	MCF-7	breast:
3	chr12:106504477..106507243-chr12:106513286..106514940,2	MCF-7	breast:
4	chr12:106476871..106479855-chr12:106504214..106506974,2	MCF-7	breast:
5	chr12:106500371..106501923-chr12:106505629..106508157,2	MCF-7	breast:
6	chr12:106505826..106508557-chr12:106531919..106534995,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000074590	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12297025	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12297212	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12316899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12316927	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12317084	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134222	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7303616	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs919837	0.96[AMR][1000 genomes];0.99[EUR][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	nsv832509	chr12:106363888-106516221	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106493400-106512400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:106495600-106507200	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr12:106498400-106507200	Weak transcription	Pancreas	Pancrea
4	chr12:106499600-106511400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:106499800-106507800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:106499800-106508400	Genic enhancers	HSMM	muscle
7	chr12:106500000-106507000	Enhancers	Adipose Nuclei	Adipose
8	chr12:106500000-106507400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr12:106500000-106510000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr12:106500200-106507400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr12:106500200-106510200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:106500200-106514000	Enhancers	Liver	Liver
13	chr12:106500600-106507400	Enhancers	HepG2	liver
14	chr12:106500600-106508600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr12:106500600-106508600	Enhancers	Right Atrium	heart
16	chr12:106500800-106507600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr12:106500800-106510200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:106500800-106521800	Enhancers	Brain Angular Gyrus	brain
19	chr12:106501200-106516800	Enhancers	Right Ventricle	heart
20	chr12:106501400-106510400	Enhancers	Fetal Brain Female	brain
21	chr12:106502000-106507400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr12:106502200-106507000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:106502400-106507000	Enhancers	Stomach Smooth Muscle	stomach
24	chr12:106502400-106510000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr12:106502600-106509400	Weak transcription	Gastric	stomach
26	chr12:106502800-106507600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr12:106502800-106507600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr12:106503000-106507000	Weak transcription	Fetal Kidney	kidney
29	chr12:106503200-106507000	Enhancers	Brain Hippocampus Middle	brain
30	chr12:106503200-106508000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr12:106503600-106510800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:106503800-106506800	Weak transcription	HUVEC	blood vessel
33	chr12:106503800-106507000	Weak transcription	Brain Germinal Matrix	brain
34	chr12:106504000-106508000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:106504200-106507800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:106504200-106524600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr12:106504400-106506600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:106504400-106509000	Enhancers	HMEC	breast
39	chr12:106504600-106507200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr12:106504600-106509600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:106504800-106507200	Weak transcription	Colonic Mucosa	Colon
42	chr12:106504800-106529000	Enhancers	Left Ventricle	heart
43	chr12:106504800-106532400	Weak transcription	Spleen	Spleen
44	chr12:106505000-106507000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr12:106505000-106507200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr12:106505000-106507400	Weak transcription	Fetal Intestine Large	intestine
47	chr12:106505000-106508400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:106505000-106509600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:106505400-106507200	Enhancers	HSMMtube	muscle
50	chr12:106505400-106509400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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