Variant report

Variant	rs2302627
Chromosome Location	chr12:68322827-68322828
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:68322315-68322832	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
ENSG00000255772	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10878698	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10878706	0.88[ASN][1000 genomes]
rs10878712	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10878713	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10878715	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10878718	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10878719	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10878720	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11176948	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11176949	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11176954	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11176959	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11176968	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11176969	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11176972	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11176978	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11176980	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11176983	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11176986	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11176989	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11176991	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11176992	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11176993	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11176995	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11610897	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11613229	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11614985	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12368120	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12370235	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12370243	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12422467	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12424418	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17104564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2215071	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2215072	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28843778	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1039638	chr12:68293351-68399871	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv899219	chr12:68293419-68353649	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1047675	chr12:68303674-68337325	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68310600-68329800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:68317000-68323000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:68317800-68324800	Enhancers	Stomach Mucosa	stomach
4	chr12:68318200-68334400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:68320200-68323600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr12:68320400-68323000	Weak transcription	Right Atrium	heart
7	chr12:68320400-68324000	Weak transcription	Right Ventricle	heart
8	chr12:68320400-68325800	Weak transcription	Gastric	stomach
9	chr12:68320600-68323400	Enhancers	Fetal Intestine Small	intestine
10	chr12:68320600-68331800	Weak transcription	Left Ventricle	heart
11	chr12:68320800-68323200	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr12:68321000-68324200	Enhancers	Fetal Heart	heart
13	chr12:68321200-68323200	Enhancers	Duodenum Mucosa	Duodenum
14	chr12:68321200-68323200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:68321400-68323400	Enhancers	HSMMtube	muscle
16	chr12:68321800-68324000	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:68322000-68323000	Weak transcription	Fetal Intestine Large	intestine
18	chr12:68322400-68323000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr12:68322400-68323200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:68322400-68323200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:68322400-68323200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr12:68322600-68323000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:68322600-68323200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr12:68322800-68323000	Enhancers	Colon Smooth Muscle	Colon
25	chr12:68322800-68323600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:68322800-68324600	Enhancers	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links