Variant report

Variant	rs73086888
Chromosome Location	chr12:39786726-39786727
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:39784633..39788139-chr12:39834968..39838023,4	MCF-7	breast:
2	chr12:39779513..39783139-chr12:39785165..39787752,3	K562	blood:
3	chr12:39786015..39787955-chr12:39796804..39799333,2	MCF-7	breast:
4	chr12:39783416..39787534-chr12:39834798..39837698,4	MCF-7	breast:
5	chr12:39785456..39789344-chr12:39830749..39834519,3	K562	blood:

Variant related genes	Relation type
ENSG00000252974	Chromatin interaction
ENSG00000139116	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1567738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73086879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73086886	1.00[AFR][1000 genomes]
rs73086887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73086895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73086896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088808	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088811	1.00[AMR][1000 genomes]
rs73088812	1.00[AMR][1000 genomes]
rs73094416	1.00[AMR][1000 genomes]
rs73094426	1.00[AMR][1000 genomes]
rs73094430	1.00[AMR][1000 genomes]
rs73094441	1.00[AMR][1000 genomes]
rs73094443	1.00[AMR][1000 genomes]
rs73094451	1.00[AMR][1000 genomes]
rs73094465	1.00[AMR][1000 genomes]
rs73094466	1.00[AMR][1000 genomes]
rs73094469	1.00[AMR][1000 genomes]
rs73094480	1.00[AMR][1000 genomes]
rs73094482	1.00[AMR][1000 genomes]
rs73094497	1.00[AMR][1000 genomes]
rs73094498	1.00[AMR][1000 genomes]
rs73094499	1.00[AMR][1000 genomes]
rs73094502	1.00[AMR][1000 genomes]
rs73096503	1.00[AMR][1000 genomes]
rs73096504	1.00[AMR][1000 genomes]
rs73096507	1.00[AMR][1000 genomes]
rs73096509	1.00[AMR][1000 genomes]
rs73096513	1.00[AMR][1000 genomes]
rs73096521	1.00[AMR][1000 genomes]
rs73096524	1.00[AMR][1000 genomes]
rs73096528	1.00[AMR][1000 genomes]
rs73096539	1.00[AMR][1000 genomes]
rs73096542	1.00[AMR][1000 genomes]
rs73096551	1.00[AMR][1000 genomes]
rs73096571	1.00[AMR][1000 genomes]
rs73096578	1.00[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	nsv832376	chr12:39633080-39808277	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39761800-39806000	Weak transcription	Hela-S3	cervix
2	chr12:39767600-39791400	Weak transcription	GM12878-XiMat	blood
3	chr12:39778800-39787200	Weak transcription	Right Ventricle	heart
4	chr12:39780200-39787400	Weak transcription	Liver	Liver
5	chr12:39780400-39789800	Weak transcription	HepG2	liver
6	chr12:39781200-39791400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:39781400-39800200	Weak transcription	Brain Angular Gyrus	brain
8	chr12:39781800-39787000	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:39782200-39796800	Weak transcription	A549	lung
10	chr12:39784600-39787600	Enhancers	Brain Germinal Matrix	brain
11	chr12:39784800-39789400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr12:39785000-39787000	Enhancers	Fetal Heart	heart
13	chr12:39785000-39791200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:39785000-39796800	Weak transcription	HMEC	breast
15	chr12:39785000-39829200	Weak transcription	K562	blood
16	chr12:39785200-39787000	Weak transcription	NHEK	skin
17	chr12:39785200-39796400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:39785400-39789600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:39785400-39796600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:39785600-39790000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:39785800-39787400	Enhancers	Stomach Mucosa	stomach
22	chr12:39785800-39787600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr12:39785800-39787600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:39785800-39787800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:39785800-39787800	Enhancers	Brain Cingulate Gyrus	brain
26	chr12:39785800-39788800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:39786000-39787200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:39786000-39787400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:39786000-39787400	Enhancers	H9 Cell Line	embryonic stem cell
30	chr12:39786000-39787400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr12:39786000-39787400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr12:39786000-39789000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr12:39786000-39789000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr12:39786000-39790000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:39786200-39787000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr12:39786200-39787400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr12:39786200-39787400	Enhancers	Right Atrium	heart
38	chr12:39786200-39787800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr12:39786200-39788800	Enhancers	Fetal Brain Female	brain
40	chr12:39786400-39787200	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:39786400-39787200	Enhancers	Pancreas	Pancrea
42	chr12:39786400-39788000	Weak transcription	Brain Substantia Nigra	brain
43	chr12:39786400-39788000	Enhancers	Gastric	stomach
44	chr12:39786400-39788200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr12:39786400-39788800	Enhancers	Fetal Brain Male	brain
46	chr12:39786400-39791200	Weak transcription	Psoas Muscle	Psoas
47	chr12:39786400-39796800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:39786600-39787200	Enhancers	Left Ventricle	heart
49	chr12:39786600-39788400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:39786600-39791400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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