Variant report

Variant	rs12421077
Chromosome Location	chr11:73565554-73565555
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73565085..73567966-chr11:73582133..73584937,2	K562	blood:
2	chr11:73563616..73566513-chr11:73584114..73587031,2	K562	blood:

Variant related genes	Relation type
ENSG00000181924	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1043234	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10501412	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10898943	0.87[AMR][1000 genomes]
rs10898947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10898949	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11235882	0.87[AMR][1000 genomes]
rs11235885	0.84[AMR][1000 genomes]
rs11235886	0.87[AMR][1000 genomes]
rs11235888	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11235898	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235905	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11235907	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235908	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235910	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11235913	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11235914	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11235915	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11235920	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11235922	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11235925	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11235927	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11235931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11235933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11235934	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11235937	0.83[ASN][1000 genomes]
rs11235939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11235947	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12365044	0.87[AMR][1000 genomes]
rs12365080	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12420099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12420751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12421900	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17132369	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17132397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17132411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1814547	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1869433	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2067912	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs3211165	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3741137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4537782	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944033	0.87[AMR][1000 genomes]
rs4944034	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4944862	0.87[AMR][1000 genomes]
rs4944868	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4944869	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55910552	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58862453	0.87[AMR][1000 genomes]
rs60020777	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60074535	0.87[AMR][1000 genomes]
rs60239378	0.87[AMR][1000 genomes]
rs60812833	0.84[ASN][1000 genomes]
rs66610247	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs66626689	0.87[AMR][1000 genomes]
rs67259239	0.81[ASN][1000 genomes]
rs7119528	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs71464090	0.83[ASN][1000 genomes]
rs72982926	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72982937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72989228	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7929705	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7939193	0.87[AMR][1000 genomes]
rs7942963	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]

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	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv1038105	chr11:73552023-73673836	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv983206	chr11:73565238-73580462	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73499600-73583800	Weak transcription	Aorta	Aorta
2	chr11:73500200-73574200	Weak transcription	Right Ventricle	heart
3	chr11:73500400-73571400	Weak transcription	Fetal Brain Male	brain
4	chr11:73500400-73583800	Weak transcription	Colonic Mucosa	Colon
5	chr11:73508400-73570600	Weak transcription	Psoas Muscle	Psoas
6	chr11:73508800-73573800	Weak transcription	Spleen	Spleen
7	chr11:73508800-73575400	Weak transcription	Gastric	stomach
8	chr11:73518400-73584000	Weak transcription	Pancreas	Pancrea
9	chr11:73533000-73580400	Weak transcription	Stomach Mucosa	stomach
10	chr11:73537400-73582600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:73539000-73577200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:73539200-73574200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:73539200-73583800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:73540000-73571200	Weak transcription	NHDF-Ad	bronchial
15	chr11:73540800-73577400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:73541600-73567000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:73541800-73574000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr11:73541800-73583600	Weak transcription	Esophagus	oesophagus
19	chr11:73542400-73577400	Weak transcription	HUVEC	blood vessel
20	chr11:73542600-73577200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr11:73548800-73582000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:73549400-73567000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:73549800-73567200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr11:73549800-73583600	Weak transcription	GM12878-XiMat	blood
25	chr11:73550000-73567000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr11:73550000-73567000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:73550000-73567000	Weak transcription	Primary B cells from cord blood	blood
28	chr11:73550000-73574000	Weak transcription	A549	lung
29	chr11:73550000-73577200	Weak transcription	HSMMtube	muscle
30	chr11:73550400-73565600	Weak transcription	Osteobl	bone
31	chr11:73550400-73574200	Weak transcription	HSMM	muscle
32	chr11:73550400-73577200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:73550400-73577200	Weak transcription	NH-A	brain
34	chr11:73550400-73582400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:73554200-73571200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr11:73554200-73574800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr11:73554400-73566800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr11:73554800-73575200	Weak transcription	Ovary	ovary
39	chr11:73555000-73567200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr11:73555000-73570800	Weak transcription	HepG2	liver
41	chr11:73555000-73571400	Weak transcription	Hela-S3	cervix
42	chr11:73555000-73577200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr11:73555600-73571600	Weak transcription	Colon Smooth Muscle	Colon
44	chr11:73555600-73573800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:73556000-73570800	Weak transcription	Brain Germinal Matrix	brain
46	chr11:73556000-73570800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr11:73556200-73567000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr11:73556200-73570600	Weak transcription	Placenta	Placenta
49	chr11:73556200-73580400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr11:73556400-73565600	Weak transcription	Fetal Kidney	kidney

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