Variant report

Variant	rs59308959
Chromosome Location	chr12:105626739-105626740
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr12:105626482-105626788	GM12878	blood:	n/a	chr12:105626602-105626615
2	NR3C1	chr12:105626702-105627117	A549	lung:	n/a	chr12:105626749-105626763
3	NR3C1	chr12:105626704-105627212	A549	lung:	n/a	chr12:105626749-105626763

No.	Distal block	Cell Line	Cell type
1	chr12:105606795..105619301-chr12:105624368..105633184,26	MCF-7	breast:
2	chr12:105624829..105626862-chr12:105636321..105638776,2	MCF-7	breast:
3	chr12:105599435..105602379-chr12:105626303..105628956,2	K562	blood:
4	chr12:105620755..105625323-chr12:105625745..105629848,5	K562	blood:
5	chr12:105609511..105612358-chr12:105625566..105629291,3	K562	blood:

Variant related genes	Relation type
C12orf75	TF binding region
APPL2	TF binding region
ENSG00000136044	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs56877961	1.00[AMR][1000 genomes]
rs57725386	1.00[AMR][1000 genomes]
rs58811447	1.00[AMR][1000 genomes]
rs59078353	1.00[AMR][1000 genomes]
rs60594465	1.00[AMR][1000 genomes]
rs60785893	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	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv455704	chr12:105583877-105651356	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
3	nsv560053	chr12:105583877-105651356	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
4	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105584000-105627000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:105600800-105626800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:105605600-105628400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:105609200-105626800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:105609200-105628600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:105611200-105628200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:105616600-105629000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:105617000-105629000	Weak transcription	Esophagus	oesophagus
9	chr12:105617400-105629000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:105618600-105626800	Weak transcription	Gastric	stomach
11	chr12:105619400-105627400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:105621600-105627200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:105621800-105626800	Enhancers	Brain Anterior Caudate	brain
14	chr12:105621800-105626800	Weak transcription	Fetal Kidney	kidney
15	chr12:105621800-105628600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:105621800-105628600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:105622000-105627400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:105622000-105629000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:105622400-105626800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:105622400-105628400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:105622600-105626800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:105622600-105627800	Weak transcription	HMEC	breast
23	chr12:105622800-105626800	Strong transcription	Primary T cells from cord blood	blood
24	chr12:105622800-105626800	Enhancers	Adipose Nuclei	Adipose
25	chr12:105622800-105628400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:105623000-105626800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:105623000-105626800	Weak transcription	GM12878-XiMat	blood
28	chr12:105623000-105627600	Weak transcription	Thymus	Thymus
29	chr12:105623000-105627600	Weak transcription	Hela-S3	cervix
30	chr12:105623000-105628600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:105623200-105626800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:105623200-105626800	Weak transcription	Liver	Liver
33	chr12:105623200-105627800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr12:105623200-105627800	Weak transcription	Fetal Thymus	thymus
35	chr12:105623200-105628000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr12:105623400-105626800	Weak transcription	Fetal Lung	lung
37	chr12:105623400-105626800	Weak transcription	Small Intestine	intestine
38	chr12:105623400-105626800	Weak transcription	Stomach Mucosa	stomach
39	chr12:105623400-105628600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:105623600-105626800	Weak transcription	K562	blood
41	chr12:105623600-105628800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr12:105624000-105626800	Enhancers	Brain Angular Gyrus	brain
43	chr12:105624000-105627400	Enhancers	Colon Smooth Muscle	Colon
44	chr12:105624000-105627400	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr12:105624200-105627000	Genic enhancers	Fetal Intestine Small	intestine
46	chr12:105624200-105627400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
47	chr12:105624400-105627000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:105624800-105626800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr12:105625000-105626800	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr12:105625000-105627000	Strong transcription	Fetal Stomach	stomach

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