Variant report

Variant	rs571988654
Chromosome Location	chr12:120533834-120533835
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120531255..120536116-chr12:120549011..120557533,8	MCF-7	breast:
2	chr12:120532967..120535127-chr12:120553029..120554673,2	K562	blood:
3	chr12:120532676..120534785-chr12:120629802..120632367,2	K562	blood:
4	chr12:120527971..120531764-chr12:120532118..120535579,5	MCF-7	breast:
5	chr12:120513658..120516518-chr12:120532561..120535483,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GCN1L1-3	chr12:120532903-120534645	NONHSAT031105

No data

Variant related genes	Relation type
ENSG00000111737	Chromatin interaction
ENSG00000135127	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
4	nsv519657	chr12:120533696-120676090	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv560433	chr12:120533696-120676090	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120525400-120534200	Weak transcription	Right Atrium	heart
2	chr12:120525600-120536000	Weak transcription	NHDF-Ad	bronchial
3	chr12:120525600-120539200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:120525600-120551800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:120525800-120536200	Weak transcription	Hela-S3	cervix
6	chr12:120525800-120539200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr12:120525800-120553400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:120527400-120546800	Strong transcription	Thymus	Thymus
9	chr12:120527600-120537600	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr12:120527600-120538800	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr12:120527600-120539200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:120527600-120539800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:120527600-120540400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr12:120527600-120546000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr12:120528400-120536800	Strong transcription	Esophagus	oesophagus
16	chr12:120528400-120537400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:120528600-120537400	Strong transcription	Gastric	stomach
18	chr12:120528600-120537800	Strong transcription	Pancreas	Pancrea
19	chr12:120528600-120538400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:120528600-120538800	Strong transcription	NHEK	skin
21	chr12:120529000-120540400	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr12:120529000-120546800	Strong transcription	Dnd41	blood
23	chr12:120529200-120537800	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr12:120529400-120535200	Genic enhancers	Fetal Muscle Trunk	muscle
25	chr12:120529400-120538400	Strong transcription	Lung	lung
26	chr12:120529400-120538400	Strong transcription	NHLF	lung
27	chr12:120529600-120538200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:120529600-120538200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:120529600-120538200	Weak transcription	Psoas Muscle	Psoas
30	chr12:120529600-120543000	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:120529800-120539200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:120529800-120542200	Strong transcription	Fetal Intestine Large	intestine
33	chr12:120530000-120539200	Strong transcription	Primary B cells from peripheral blood	blood
34	chr12:120530200-120534400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:120530200-120535400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:120530200-120536000	Weak transcription	HSMM	muscle
37	chr12:120530400-120537200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:120530400-120538400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:120530600-120534000	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr12:120530600-120534200	Enhancers	H1 Cell Line	embryonic stem cell
41	chr12:120530800-120534800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:120530800-120540400	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr12:120531000-120535200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr12:120531200-120534600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:120531600-120537600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:120531800-120534000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr12:120531800-120538400	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr12:120532000-120534400	Weak transcription	Fetal Lung	lung
49	chr12:120532000-120534400	Weak transcription	HepG2	liver
50	chr12:120532000-120535200	Weak transcription	NH-A	brain

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