Variant report

Variant	rs36030303
Chromosome Location	chr12:1686360-1686361
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1684651..1686904-chr12:1699807..1702010,2	K562	blood:
2	chr12:1686155..1688977-chr12:1689478..1691002,2	MCF-7	breast:
3	chr12:1686129..1688315-chr12:1695875..1697621,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12827353	1.00[AFR][1000 genomes]
rs12828057	1.00[AFR][1000 genomes]
rs35158962	1.00[AFR][1000 genomes]
rs35245056	1.00[AFR][1000 genomes]
rs35391324	1.00[AFR][1000 genomes]
rs35710824	1.00[AFR][1000 genomes]
rs35910263	1.00[AFR][1000 genomes]
rs7132752	1.00[AFR][1000 genomes]
rs71454830	1.00[AFR][1000 genomes]
rs73040750	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045278	chr12:920251-1697030	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	esv3397478	chr12:1535455-1730159	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv898584	chr12:1607390-1783251	Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv826180	chr12:1614395-1759431	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv826181	chr12:1619798-1754941	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv470258	chr12:1670493-1698010	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1651000-1690400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:1669600-1689200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:1670200-1688000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr12:1673000-1692600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr12:1674400-1692600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:1675000-1692000	Weak transcription	HSMM	muscle
7	chr12:1675400-1689000	Weak transcription	Primary T cells from cord blood	blood
8	chr12:1675800-1692600	Weak transcription	Brain Substantia Nigra	brain
9	chr12:1679600-1697000	Weak transcription	HSMMtube	muscle
10	chr12:1680800-1692400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr12:1683600-1686600	Enhancers	Fetal Muscle Leg	muscle
12	chr12:1683600-1687000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:1683600-1687200	Enhancers	Placenta	Placenta
14	chr12:1683600-1687400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:1683800-1686600	Enhancers	Fetal Muscle Trunk	muscle
16	chr12:1683800-1686800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:1683800-1686800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr12:1683800-1687000	Enhancers	Fetal Heart	heart
19	chr12:1683800-1690200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:1684200-1686600	Enhancers	Stomach Mucosa	stomach
21	chr12:1684400-1686600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:1684400-1686600	Flanking Active TSS	Osteobl	bone
23	chr12:1684600-1686400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:1684600-1686400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:1684600-1686400	Flanking Active TSS	Colon Smooth Muscle	Colon
26	chr12:1684600-1686400	Enhancers	Left Ventricle	heart
27	chr12:1684600-1686600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:1684600-1686600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:1684600-1686600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:1684600-1686600	Enhancers	Brain Hippocampus Middle	brain
31	chr12:1684600-1686600	Enhancers	Fetal Brain Female	brain
32	chr12:1684600-1686600	Enhancers	Lung	lung
33	chr12:1684600-1686600	Flanking Active TSS	Rectal Smooth Muscle	rectum
34	chr12:1684600-1686600	Enhancers	NH-A	brain
35	chr12:1684600-1687000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr12:1684600-1687000	Enhancers	Gastric	stomach
37	chr12:1684600-1687000	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr12:1684600-1687200	Enhancers	Liver	Liver
39	chr12:1684800-1687000	Bivalent Enhancer	HepG2	liver
40	chr12:1684800-1688600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr12:1685000-1686400	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr12:1685000-1686600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:1685000-1695000	Weak transcription	Thymus	Thymus
44	chr12:1685200-1686400	Enhancers	Brain Germinal Matrix	brain
45	chr12:1685200-1687000	Enhancers	Fetal Brain Male	brain
46	chr12:1685200-1687200	Enhancers	Fetal Kidney	kidney
47	chr12:1685200-1687400	Enhancers	Fetal Lung	lung
48	chr12:1685200-1689200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr12:1685200-1690200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:1685200-1690600	Weak transcription	GM12878-XiMat	blood

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