Variant report

Variant	rs4765865
Chromosome Location	chr12:2030045-2030046
allele	C/T
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	chr12:2030023-2030619	HL-60	blood:	n/a	chr12:2030344-2030357 chr12:2030338-2030351 chr12:2030346-2030355

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:2023041..2025540-chr12:2026529..2030092,4	K562	blood:
2	chr12:2028759..2031079-chr12:2033519..2035099,2	K562	blood:

Variant related genes	Relation type
CACNA2D4	TF binding region
ENSG00000151062	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11833546	1.00[ASN][1000 genomes]
rs73032440	1.00[ASN][1000 genomes]
rs73038172	1.00[ASN][1000 genomes]
rs73038195	1.00[ASN][1000 genomes]
rs73041873	1.00[ASN][1000 genomes]
rs73041897	1.00[ASN][1000 genomes]
rs73043810	1.00[ASN][1000 genomes]
rs73043822	1.00[ASN][1000 genomes]
rs7969511	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948480	chr12:1776217-2284333	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv898598	chr12:1939252-2215448	Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1046388	chr12:1964846-2034887	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1043329	chr12:1986238-2034887	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv557000	chr12:2008548-2045640	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv898600	chr12:2020045-2056363	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1040370	chr12:2021395-2671017	Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv948400	chr12:2022411-2601363	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	esv3499585	chr12:2028791-2033089	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv3504704	chr12:2029891-2032239	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2026600-2030200	Weak transcription	Pancreas	Pancrea
2	chr12:2026600-2031600	Weak transcription	Gastric	stomach
3	chr12:2026800-2033600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:2027200-2033800	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:2027600-2033600	Weak transcription	Left Ventricle	heart
6	chr12:2027600-2033600	Weak transcription	Right Ventricle	heart
7	chr12:2027600-2041800	Weak transcription	Fetal Brain Female	brain
8	chr12:2027800-2033800	Weak transcription	Spleen	Spleen
9	chr12:2028000-2030400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:2028200-2030200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:2028200-2030200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:2028400-2031400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr12:2028400-2033600	Weak transcription	Brain Anterior Caudate	brain
14	chr12:2028400-2033600	Weak transcription	Psoas Muscle	Psoas
15	chr12:2028600-2030200	Weak transcription	Placenta	Placenta
16	chr12:2028800-2031600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:2028800-2032200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:2028800-2032600	Weak transcription	Fetal Heart	heart
19	chr12:2028800-2033600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:2028800-2033600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:2028800-2041000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:2029000-2030200	Weak transcription	Fetal Muscle Leg	muscle
23	chr12:2029000-2037000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:2029200-2032400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr12:2029400-2030600	Enhancers	Primary hematopoietic stem cells	blood
26	chr12:2029600-2030600	Enhancers	Fetal Thymus	thymus
27	chr12:2029600-2031400	Enhancers	Primary B cells from cord blood	blood
28	chr12:2029800-2030200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:2029800-2030400	ZNF genes & repeats	Thymus	Thymus
30	chr12:2029800-2030600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:2029800-2030600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr12:2029800-2030800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr12:2030000-2030200	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr12:2030000-2030200	Enhancers	Fetal Muscle Trunk	muscle
35	chr12:2030000-2030600	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr12:2030000-2032000	Active TSS	Rectal Mucosa Donor 29	rectum

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