Variant report

Variant	rs73417751
Chromosome Location	chr12:121412274-121412275
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:121411683-121412321	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121412159..121414001-chr12:121420552..121422609,2	MCF-7	breast:
2	chr12:121410040..121412493-chr12:121417620..121420402,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C12orf43-1	chr12:121412188-121412401	ENSG00000241388.2
2	lnc-C12orf43-1	chr12:121410457-121412502	NONHSAT031257

No data

Variant related genes	Relation type
ENSG00000272214	TF binding region
HNF1A	TF binding region
ENSG00000241388	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73417744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121400600-121416000	Weak transcription	Small Intestine	intestine
2	chr12:121405200-121415400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:121406600-121412400	Genic enhancers	Liver	Liver
4	chr12:121408000-121414200	Genic enhancers	Fetal Intestine Small	intestine
5	chr12:121408200-121417800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:121408400-121415400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:121409000-121412400	Genic enhancers	Fetal Intestine Large	intestine
8	chr12:121409200-121412400	Genic enhancers	HepG2	liver
9	chr12:121409600-121415000	Weak transcription	Esophagus	oesophagus
10	chr12:121409600-121418400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:121409600-121422200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:121410000-121415400	Weak transcription	Fetal Kidney	kidney
13	chr12:121410000-121415400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:121410000-121418600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:121410600-121412400	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr12:121410800-121412400	Genic enhancers	Duodenum Mucosa	Duodenum
17	chr12:121410800-121412400	Strong transcription	Fetal Stomach	stomach
18	chr12:121410800-121412400	Genic enhancers	Rectal Mucosa Donor 31	rectum
19	chr12:121411200-121413400	Weak transcription	K562	blood
20	chr12:121411200-121414000	Weak transcription	A549	lung
21	chr12:121411200-121415400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:121411200-121416000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:121411400-121415200	Weak transcription	Colonic Mucosa	Colon
24	chr12:121411400-121418200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr12:121411400-121418200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:121411600-121415600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr12:121411800-121412400	Strong transcription	Pancreas	Pancrea
28	chr12:121412200-121414200	Weak transcription	Gastric	stomach
29	chr12:121412200-121415000	Weak transcription	Stomach Mucosa	stomach
30	chr12:121412200-121416000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:121412200-121416000	Weak transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links