Variant report

Variant	rs11610897
Chromosome Location	chr12:68321426-68321427
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10878698	1.00[ASW][hapmap];0.88[MEX][hapmap];0.83[AMR][1000 genomes]
rs10878712	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10878713	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10878715	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10878718	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10878719	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10878720	0.94[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10878721	0.83[MEX][hapmap];0.91[TSI][hapmap]
rs11176948	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11176949	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11176954	0.80[CEU][hapmap];0.88[MEX][hapmap];0.96[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11176959	0.80[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11176969	0.88[EUR][1000 genomes]
rs11176972	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11176978	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11176980	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11176983	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11176986	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11176989	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11176991	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11176992	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11176993	0.85[EUR][1000 genomes]
rs11176995	0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11613229	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11614985	0.84[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12368120	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12370235	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12370243	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12422467	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12424418	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17104564	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2215071	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2215072	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2302627	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[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:22 , 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	chr12:68316200-68322800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:68317000-68323000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:68317800-68324800	Enhancers	Stomach Mucosa	stomach
5	chr12:68318200-68334400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:68320000-68322600	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr12:68320200-68323600	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr12:68320400-68321600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:68320400-68323000	Weak transcription	Right Atrium	heart
10	chr12:68320400-68324000	Weak transcription	Right Ventricle	heart
11	chr12:68320400-68325800	Weak transcription	Gastric	stomach
12	chr12:68320600-68322000	Enhancers	Fetal Intestine Large	intestine
13	chr12:68320600-68323400	Enhancers	Fetal Intestine Small	intestine
14	chr12:68320600-68331800	Weak transcription	Left Ventricle	heart
15	chr12:68320800-68323200	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr12:68321000-68321800	Enhancers	Fetal Muscle Leg	muscle
17	chr12:68321000-68324200	Enhancers	Fetal Heart	heart
18	chr12:68321200-68321800	Enhancers	Colon Smooth Muscle	Colon
19	chr12:68321200-68323200	Enhancers	Duodenum Mucosa	Duodenum
20	chr12:68321200-68323200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:68321400-68321600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:68321400-68323400	Enhancers	HSMMtube	muscle

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