Variant report

Variant	rs11235888
Chromosome Location	chr11:73470557-73470558
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	CHD1	chr11:73470175-73472986	IMR90	lung:	n/a	n/a
2	FOS	chr11:73469932-73470865	MCF10A-Er-Src	breast:	n/a	chr11:73470256-73470263 chr11:73470255-73470265 chr11:73470256-73470264 chr11:73470255-73470265 chr11:73470255-73470265 chr11:73470256-73470264 chr11:73470255-73470265
3	REST	chr11:73470122-73473031	H1-neurons	neurons:	n/a	chr11:73472243-73472252 chr11:73472016-73472029
4	FOS	chr11:73470085-73470785	MCF10A-Er-Src	breast:	n/a	chr11:73470256-73470263 chr11:73470255-73470265 chr11:73470256-73470264 chr11:73470255-73470265 chr11:73470255-73470265 chr11:73470256-73470264 chr11:73470255-73470265
5	MYC	chr11:73470324-73470728	MCF10A-Er-Src	breast:	n/a	n/a
6	BRCA1	chr11:73470359-73470979	Hela-S3	cervix:	n/a	n/a
7	SIN3A	chr11:73470333-73472837	H1-hESC	embryonic stem cell:	n/a	chr11:73472396-73472407
8	MXI1	chr11:73470216-73472687	IMR90	lung:	n/a	n/a
9	MAFK	chr11:73470119-73471231	Hela-S3	cervix:	n/a	chr11:73470254-73470263 chr11:73470249-73470264 chr11:73470256-73470266
10	RFX5	chr11:73470024-73472873	SK-N-SH	brain:	n/a	chr11:73472384-73472393
11	CTCF	chr11:73470520-73470670	NHEK	skin:	n/a	chr11:73470571-73470579
12	SMC3	chr11:73470191-73472766	Hela-S3	cervix:	n/a	chr11:73472313-73472327 chr11:73471462-73471476
13	MXI1	chr11:73470057-73472970	SK-N-SH	brain:	n/a	n/a
14	REST	chr11:73470397-73471469	H1-neurons	neurons:	n/a	n/a
15	ZKSCAN1	chr11:73470036-73470956	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr11:73470540-73470690	RPTEC	kidney:	n/a	chr11:73470571-73470579
17	HCFC1	chr11:73469159-73472987	Hela-S3	cervix:	n/a	n/a
18	TBP	chr11:73470130-73471043	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:73469206..73473775-chr11:73494297..73499248,5	K562	blood:
2	chr11:73470519..73472838-chr11:73586575..73589489,2	MCF-7	breast:
3	chr11:73470070..73470855-chr9:22831107..22832031,2	MCF-7	breast:
4	chr11:73466132..73474322-chr11:73488493..73499248,27	K562	blood:
5	chr11:73464912..73467811-chr11:73468593..73470766,3	K562	blood:
6	chr11:73470211..73473572-chr11:73496692..73501846,8	MCF-7	breast:
7	chr11:73371858..73374878-chr11:73470388..73473197,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256034	TF binding region
ENSG00000181924	Chromatin interaction
ENSG00000175575	Chromatin interaction
ENSG00000021300	Chromatin interaction
ENSG00000175581	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs1043234	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10501412	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10736793	0.86[ASN][1000 genomes]
rs10898943	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10898947	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10898949	0.87[AMR][1000 genomes]
rs11235844	0.84[EUR][1000 genomes]
rs11235850	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11235851	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11235852	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11235859	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11235860	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11235864	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11235875	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11235881	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11235882	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11235885	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11235886	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11235887	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11235898	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11235905	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11235907	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11235908	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11235910	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11235913	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11235914	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11235915	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11235920	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11235922	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11235925	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11235927	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11235931	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11235933	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11235934	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11235939	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11235947	0.87[AMR][1000 genomes]
rs12365044	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12365080	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12366033	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12420099	0.87[AMR][1000 genomes]
rs12420751	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12421077	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12421900	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1464908	0.84[ASN][1000 genomes]
rs17132369	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17132397	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17132403	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17132411	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1723840	1.00[ASN][1000 genomes]
rs1814547	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1830069	0.97[ASN][1000 genomes]
rs1869433	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2037710	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2140892	0.97[ASN][1000 genomes]
rs3211165	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3741137	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3825003	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4537782	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4944028	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4944029	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4944032	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4944033	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944034	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4944856	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4944862	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944868	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4944869	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55910552	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58862453	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60020777	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60074535	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60239378	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6592531	0.86[ASN][1000 genomes]
rs66481935	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs66556722	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66610247	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66626689	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67167213	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67488767	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs68128239	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7106773	0.80[ASN][1000 genomes]
rs7115166	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7119528	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72974840	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72974866	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72974869	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72976852	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72982926	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72982937	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72989228	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7929705	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7939193	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[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	nsv897912	chr11:73436008-73477045	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	esv3426251	chr11:73461503-73538032	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73413400-73470800	Weak transcription	Esophagus	oesophagus
2	chr11:73430800-73470600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:73463600-73470600	Weak transcription	Fetal Thymus	thymus
4	chr11:73463600-73470600	Weak transcription	Thymus	Thymus
5	chr11:73463600-73470800	Weak transcription	Gastric	stomach
6	chr11:73463800-73470600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:73463800-73470600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:73464200-73470800	Weak transcription	Lung	lung
9	chr11:73464400-73470800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:73465000-73470600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr11:73465000-73470800	Weak transcription	Small Intestine	intestine
12	chr11:73466200-73470800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:73466800-73470800	Weak transcription	Pancreas	Pancrea
14	chr11:73467000-73470600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr11:73468000-73470800	Weak transcription	Spleen	Spleen
16	chr11:73468400-73471400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:73468600-73470600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:73468800-73470600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr11:73468800-73470600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:73469000-73470600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:73469000-73470600	Enhancers	Fetal Heart	heart
22	chr11:73469000-73470600	Weak transcription	Left Ventricle	heart
23	chr11:73469000-73470800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:73469000-73472800	Active TSS	GM12878-XiMat	blood
25	chr11:73469200-73470600	Flanking Active TSS	HUVEC	blood vessel
26	chr11:73469200-73470800	Active TSS	HepG2	liver
27	chr11:73469200-73472800	Active TSS	H1 Cell Line	embryonic stem cell
28	chr11:73469200-73472800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:73469400-73470600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr11:73469400-73471200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:73469400-73472600	Active TSS	HMEC	breast
32	chr11:73469400-73472600	Active TSS	NHLF	lung
33	chr11:73469400-73473000	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr11:73469600-73470600	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr11:73469600-73470600	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr11:73469600-73470600	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr11:73469600-73470600	Flanking Active TSS	A549	lung
38	chr11:73469600-73470600	Flanking Active TSS	K562	blood
39	chr11:73469600-73470600	Flanking Active TSS	Osteobl	bone
40	chr11:73469600-73470800	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr11:73469600-73470800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr11:73469600-73471000	Flanking Active TSS	Liver	Liver
43	chr11:73469600-73471000	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr11:73469600-73471000	Active TSS	Brain Germinal Matrix	brain
45	chr11:73469600-73471000	Flanking Active TSS	Dnd41	blood
46	chr11:73469600-73471000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr11:73469600-73471200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:73469600-73471400	Active TSS	Right Atrium	heart
49	chr11:73469600-73472600	Active TSS	HSMMtube	muscle
50	chr11:73469600-73472800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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