Variant report

Variant	rs568340091
Chromosome Location	chr12:1806501-1806502
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1805184..1807328-chr12:1869608..1872383,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CACNA2D4-2	chr12:1805791-1807210	NONHSAT025413

Variant related genes	Relation type
ENSG00000006831	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv832304	chr12:1710249-1868642	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv832305	chr12:1769852-1936054	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
5	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
6	nsv1045312	chr12:1805856-1843202	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1801000-1815800	Weak transcription	Esophagus	oesophagus
2	chr12:1801000-1815800	Weak transcription	Gastric	stomach
3	chr12:1801200-1807200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:1801400-1806600	Weak transcription	Aorta	Aorta
5	chr12:1801600-1806600	Weak transcription	Fetal Brain Male	brain
6	chr12:1801600-1807600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:1801600-1814200	Weak transcription	HSMM	muscle
8	chr12:1801600-1815200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:1801600-1823400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:1801600-1827800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:1801800-1807800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:1801800-1808200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:1801800-1811400	Weak transcription	NH-A	brain
14	chr12:1801800-1813400	Weak transcription	A549	lung
15	chr12:1801800-1823800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:1801800-1828200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:1801800-1830800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:1802200-1806600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:1802200-1806600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:1802200-1806600	Weak transcription	Fetal Brain Female	brain
21	chr12:1802200-1807800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr12:1802200-1815000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:1802200-1815000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:1802200-1815000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr12:1802200-1815400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:1802200-1815800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:1802200-1822800	Weak transcription	Thymus	Thymus
28	chr12:1802400-1808800	Weak transcription	HUVEC	blood vessel
29	chr12:1802400-1811800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:1802400-1815000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:1802400-1822800	Weak transcription	Fetal Thymus	thymus
32	chr12:1802400-1823000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:1802400-1824600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:1802400-1841200	Weak transcription	HMEC	breast
35	chr12:1802600-1808000	Enhancers	Adipose Nuclei	Adipose
36	chr12:1802800-1807200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:1803000-1813400	Weak transcription	Primary B cells from cord blood	blood
38	chr12:1803200-1815800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr12:1803600-1808400	Enhancers	Brain Hippocampus Middle	brain
40	chr12:1803600-1808400	Enhancers	HepG2	liver
41	chr12:1803800-1812400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:1804000-1806800	Enhancers	Primary hematopoietic stem cells	blood
43	chr12:1804400-1806600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr12:1804400-1806800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:1804400-1808800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr12:1804400-1809400	Enhancers	Stomach Mucosa	stomach
47	chr12:1804400-1816000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:1804600-1810200	Weak transcription	Fetal Intestine Small	intestine
49	chr12:1804800-1807400	Enhancers	Brain Anterior Caudate	brain
50	chr12:1805000-1806600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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