Variant report

Variant	rs11829012
Chromosome Location	chr11:73470677-73470678
allele	G/T
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	CTCF	chr11:73470640-73470790	SK-N-SH_RA	brain:	n/a	n/a
2	CTCF	chr11:73470620-73470770	GM12873	blood:	n/a	n/a
3	CTCF	chr11:73470660-73470810	AG09319	gingival:	n/a	n/a
4	CTCF	chr11:73470640-73470790	HCPEpiC	choroid plexus:	n/a	n/a
5	TAF1	chr11:73470672-73471543	H1-neurons	neurons:	n/a	n/a
6	CTCF	chr11:73470640-73470790	AG04450	lung:	n/a	n/a
7	CHD1	chr11:73470175-73472986	IMR90	lung:	n/a	n/a
8	CTCF	chr11:73470660-73470810	AG10803	skin:	n/a	n/a
9	CTCF	chr11:73470640-73470790	HRE	kidney:	n/a	n/a
10	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
11	CTCF	chr11:73470620-73470770	HMEC	breast:	n/a	n/a
12	CTCF	chr11:73470640-73470790	GM06990	blood:	n/a	n/a
13	REST	chr11:73470122-73473031	H1-neurons	neurons:	n/a	chr11:73472243-73472252 chr11:73472016-73472029
14	POLR2A	chr11:73470590-73471859	H1-neurons	neurons:	n/a	n/a
15	CTCF	chr11:73470601-73470901	K562	blood:	n/a	n/a
16	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
17	CTCF	chr11:73470660-73470810	HUVEC	blood vessel:	n/a	n/a
18	MYC	chr11:73470324-73470728	MCF10A-Er-Src	breast:	n/a	n/a
19	BRCA1	chr11:73470359-73470979	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr11:73470660-73470810	AG04449	skin:	n/a	n/a
21	SIN3A	chr11:73470333-73472837	H1-hESC	embryonic stem cell:	n/a	chr11:73472396-73472407
22	CTCF	chr11:73470640-73470790	HEEpiC	esophagus:	n/a	n/a
23	MXI1	chr11:73470216-73472687	IMR90	lung:	n/a	n/a
24	CTCF	chr11:73470640-73470790	HBMEC	blood vessel:	n/a	n/a
25	CTCF	chr11:73470660-73470810	HRPEpiC	eye:	n/a	n/a
26	CTCF	chr11:73470620-73470770	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr11:73470640-73470790	Caco-2	colon:	n/a	n/a
28	CTCF	chr11:73470640-73470790	AG09309	skin:	n/a	n/a
29	MAFK	chr11:73470119-73471231	Hela-S3	cervix:	n/a	chr11:73470254-73470263 chr11:73470249-73470264 chr11:73470256-73470266
30	RFX5	chr11:73470024-73472873	SK-N-SH	brain:	n/a	chr11:73472384-73472393
31	CTCF	chr11:73470640-73470790	GM12866	blood:	n/a	n/a
32	SIN3AK20	chr11:73470669-73472894	MCF-7	breast:	n/a	n/a
33	CTCF	chr11:73470660-73470810	HMF	breast:	n/a	n/a
34	RAD21	chr11:73470600-73471229	IMR90	lung:	n/a	n/a
35	CTCF	chr11:73470620-73470770	HCFaa	heart:	n/a	n/a
36	CTCF	chr11:73470600-73470750	HFF	foreskin:	n/a	n/a
37	CTCF	chr11:73470597-73470909	IMR90	lung:	n/a	n/a
38	MAX	chr11:73470656-73472760	Hela-S3	cervix:	n/a	n/a
39	RAD21	chr11:73470614-73470873	A549	lung:	n/a	n/a
40	RAD21	chr11:73470569-73470955	Hela-S3	cervix:	n/a	n/a
41	SMC3	chr11:73470191-73472766	Hela-S3	cervix:	n/a	chr11:73472313-73472327 chr11:73471462-73471476
42	MXI1	chr11:73470057-73472970	SK-N-SH	brain:	n/a	n/a
43	CTCF	chr11:73470660-73470810	HCPEpiC	choroid plexus:	n/a	n/a
44	POLR2A	chr11:73470567-73472958	H1-neurons	neurons:	n/a	n/a
45	CTCF	chr11:73470600-73470750	HVMF	connective:	n/a	n/a
46	CTCF	chr11:73470660-73470950	GM12875	blood:	n/a	n/a
47	CTCF	chr11:73470660-73470810	HRE	kidney:	n/a	n/a
48	CTCF	chr11:73470660-73470810	BJ	skin:	n/a	n/a
49	CTCF	chr11:73470660-73470810	HPF	lung:	n/a	n/a
50	CTCF	chr11:73470640-73470790	AG09319	gingival:	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	chr11:73470660..73473982-chr11:73497982..73500813,6	MCF-7	breast:
4	chr11:73470070..73470855-chr9:22831107..22832031,2	MCF-7	breast:
5	chr11:73466132..73474322-chr11:73488493..73499248,27	K562	blood:
6	chr11:73464912..73467811-chr11:73468593..73470766,3	K562	blood:
7	chr11:73470211..73473572-chr11:73496692..73501846,8	MCF-7	breast:
8	chr11:73371858..73374878-chr11:73470388..73473197,3	MCF-7	breast:
9	chr11:73470670..73473023-chr8:128747160..128749276,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256034	TF binding region
ENSG00000021300	Chromatin interaction
ENSG00000181924	Chromatin interaction
ENSG00000175575	Chromatin interaction
ENSG00000136997	Chromatin interaction
ENSG00000175581	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11821823	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11822264	1.00[EUR][1000 genomes]
rs11822655	1.00[EUR][1000 genomes]
rs11822794	1.00[EUR][1000 genomes]
rs11823400	1.00[EUR][1000 genomes]
rs11824937	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11825819	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11826017	1.00[EUR][1000 genomes]
rs11827951	1.00[EUR][1000 genomes]
rs11828393	1.00[EUR][1000 genomes]
rs11829005	1.00[EUR][1000 genomes]
rs12295455	1.00[EUR][1000 genomes]
rs17132260	1.00[EUR][1000 genomes]
rs17132408	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132422	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132488	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2462620	1.00[EUR][1000 genomes]
rs2512635	1.00[EUR][1000 genomes]
rs55840703	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55893487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55939206	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56117405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56237750	1.00[EUR][1000 genomes]
rs56340309	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56378817	1.00[EUR][1000 genomes]
rs56723437	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56767203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57579114	1.00[EUR][1000 genomes]
rs58792356	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59610227	1.00[EUR][1000 genomes]
rs59621450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60093210	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60520592	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60924318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61085412	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61581672	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61616797	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61701946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs645579	1.00[EUR][1000 genomes]
rs675838	1.00[EUR][1000 genomes]
rs676346	1.00[EUR][1000 genomes]
rs73543094	0.87[AMR][1000 genomes];1.00[EUR][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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73413400-73470800	Weak transcription	Esophagus	oesophagus
2	chr11:73463600-73470800	Weak transcription	Gastric	stomach
3	chr11:73464200-73470800	Weak transcription	Lung	lung
4	chr11:73464400-73470800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:73465000-73470800	Weak transcription	Small Intestine	intestine
6	chr11:73466200-73470800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:73466800-73470800	Weak transcription	Pancreas	Pancrea
8	chr11:73468000-73470800	Weak transcription	Spleen	Spleen
9	chr11:73468400-73471400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:73469000-73470800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:73469000-73472800	Active TSS	GM12878-XiMat	blood
12	chr11:73469200-73470800	Active TSS	HepG2	liver
13	chr11:73469200-73472800	Active TSS	H1 Cell Line	embryonic stem cell
14	chr11:73469200-73472800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:73469400-73471200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:73469400-73472600	Active TSS	HMEC	breast
17	chr11:73469400-73472600	Active TSS	NHLF	lung
18	chr11:73469400-73473000	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr11:73469600-73470800	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr11:73469600-73470800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr11:73469600-73471000	Flanking Active TSS	Liver	Liver
22	chr11:73469600-73471000	Flanking Active TSS	Brain Cingulate Gyrus	brain
23	chr11:73469600-73471000	Active TSS	Brain Germinal Matrix	brain
24	chr11:73469600-73471000	Flanking Active TSS	Dnd41	blood
25	chr11:73469600-73471000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr11:73469600-73471200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:73469600-73471400	Active TSS	Right Atrium	heart
28	chr11:73469600-73472600	Active TSS	HSMMtube	muscle
29	chr11:73469600-73472800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:73469600-73473000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr11:73469800-73471200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr11:73469800-73472200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr11:73469800-73472400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:73469800-73472600	Active TSS	Fetal Intestine Large	intestine
35	chr11:73469800-73473000	Active TSS	HSMM	muscle
36	chr11:73470000-73470800	Flanking Active TSS	Rectal Smooth Muscle	rectum
37	chr11:73470000-73471000	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr11:73470000-73471000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr11:73470000-73471000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr11:73470000-73471200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:73470000-73471200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:73470000-73471200	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr11:73470000-73472200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:73470000-73472600	Active TSS	Fetal Intestine Small	intestine
45	chr11:73470000-73472800	Active TSS	Psoas Muscle	Psoas
46	chr11:73470000-73473000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:73470000-73473000	Active TSS	Brain Angular Gyrus	brain
48	chr11:73470200-73470800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:73470200-73470800	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr11:73470200-73471000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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