Variant report

Variant	rs145314420
Chromosome Location	chr12:121416673-121416674
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121159870..121162504-chr12:121416031..121417915,2	K562	blood:

Variant related genes	Relation type
ENSG00000265455	Chromatin interaction
ENSG00000256569	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv899560	chr12:121371233-121560581	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv899561	chr12:121376416-121525591	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv899562	chr12:121376416-121565870	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	esv3357747	chr12:121405281-121427388	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1037195	chr12:121408540-121470375	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121408200-121417800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr12:121409600-121418400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:121409600-121422200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:121410000-121418600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:121411400-121418200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:121411400-121418200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:121414200-121417600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
8	chr12:121414600-121418800	Active TSS	Gastric	stomach
9	chr12:121414600-121419000	Weak transcription	Fetal Lung	lung
10	chr12:121415400-121418800	Active TSS	Rectal Smooth Muscle	rectum
11	chr12:121415400-121419200	Active TSS	Fetal Kidney	kidney
12	chr12:121415400-121419800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:121415600-121416800	Active TSS	Stomach Smooth Muscle	stomach
14	chr12:121415600-121418600	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr12:121416000-121417400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:121416000-121418800	Active TSS	Sigmoid Colon	Sigmoid Colon
17	chr12:121416000-121418800	Active TSS	Small Intestine	intestine
18	chr12:121416000-121419000	Active TSS	Fetal Intestine Large	intestine
19	chr12:121416000-121419000	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr12:121416000-121419200	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr12:121416200-121418000	Bivalent/Poised TSS	HepG2	liver
22	chr12:121416200-121418400	Active TSS	Liver	Liver
23	chr12:121416200-121418800	Active TSS	Pancreas	Pancrea
24	chr12:121416200-121419000	Active TSS	Colonic Mucosa	Colon
25	chr12:121416200-121419000	Active TSS	Duodenum Mucosa	Duodenum
26	chr12:121416200-121419000	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr12:121416200-121419000	Active TSS	Stomach Mucosa	stomach
28	chr12:121416400-121417400	Bivalent/Poised TSS	Fetal Stomach	stomach
29	chr12:121416600-121417400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:121416600-121418000	Active TSS	A549	lung
31	chr12:121416600-121418200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links