Variant report

Variant	rs397850558
Chromosome Location	chr12:66526869-66526870
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:66526160-66526954	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr12:66523650-66526889	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:66523792..66527078-chr12:66561013..66565049,6	MCF-7	breast:
2	chr12:66526618..66528298-chr12:66533657..66535201,2	MCF-7	breast:
3	chr12:66512970..66515802-chr12:66525883..66527400,2	MCF-7	breast:
4	chr12:66523095..66527368-chr12:66532414..66535159,4	MCF-7	breast:
5	chr12:66524156..66526872-chr12:66529144..66534313,4	K562	blood:
6	chr12:66524217..66527472-chr12:66531631..66536698,7	K562	blood:
7	chr12:66526136..66528056-chr12:66612533..66614066,2	K562	blood:

No data

Variant related genes	Relation type
LLPH	TF binding region
ENSG00000155957	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	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1049537	chr12:66403269-66606174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv899214	chr12:66516692-66556960	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv1009248	chr12:66525948-66530263	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv2607781	chr12:66526818-66530397	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66525000-66531200	Weak transcription	Lung	lung
2	chr12:66525000-66533200	Weak transcription	Gastric	stomach
3	chr12:66525200-66530000	Weak transcription	Placenta	Placenta
4	chr12:66525200-66533200	Weak transcription	Esophagus	oesophagus
5	chr12:66525200-66533200	Weak transcription	Pancreas	Pancrea
6	chr12:66525200-66534400	Weak transcription	Small Intestine	intestine
7	chr12:66525400-66527000	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr12:66525400-66527200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:66525400-66530000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:66525400-66530000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:66525400-66530000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:66525400-66530000	Weak transcription	Brain Germinal Matrix	brain
13	chr12:66525400-66530000	Weak transcription	Fetal Intestine Large	intestine
14	chr12:66525400-66530000	Weak transcription	Fetal Kidney	kidney
15	chr12:66525400-66530000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr12:66525400-66530200	Weak transcription	Ovary	ovary
17	chr12:66525400-66533200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr12:66525400-66533200	Weak transcription	Spleen	Spleen
19	chr12:66525400-66533400	Weak transcription	Aorta	Aorta
20	chr12:66525400-66533400	Weak transcription	Fetal Brain Male	brain
21	chr12:66525400-66534400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:66525400-66562400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:66525600-66527000	Enhancers	HUVEC	blood vessel
24	chr12:66525600-66527600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr12:66525600-66529800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:66525600-66530000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr12:66525600-66530000	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr12:66525600-66530000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:66525600-66530000	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr12:66525600-66530000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:66525600-66530000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:66525600-66530000	Weak transcription	Adipose Nuclei	Adipose
33	chr12:66525600-66530000	Weak transcription	Brain Anterior Caudate	brain
34	chr12:66525600-66530000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr12:66525600-66530000	Weak transcription	Colon Smooth Muscle	Colon
36	chr12:66525600-66530000	Weak transcription	Fetal Brain Female	brain
37	chr12:66525600-66530000	Weak transcription	Fetal Thymus	thymus
38	chr12:66525600-66530000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr12:66525600-66530000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:66525600-66531800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr12:66525600-66533200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr12:66525600-66533400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:66525600-66533400	Weak transcription	Brain Substantia Nigra	brain
44	chr12:66525600-66533600	Weak transcription	Right Ventricle	heart
45	chr12:66525600-66536000	Weak transcription	Brain Hippocampus Middle	brain
46	chr12:66525600-66536400	Weak transcription	Stomach Mucosa	stomach
47	chr12:66525600-66549000	Weak transcription	Colonic Mucosa	Colon
48	chr12:66525600-66552400	Weak transcription	Brain Angular Gyrus	brain
49	chr12:66525600-66561800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:66525800-66527000	Enhancers	HMEC	breast

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