Variant report

Variant	rs2305534
Chromosome Location	chr11:66313203-66313204
allele	C/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	MAX	chr11:66313077-66313893	ECC-1	luminal epithelium:	n/a	chr11:66313616-66313625
2	TCF3	chr11:66313126-66313537	GM12878	blood:	n/a	n/a
3	MYC	chr11:66313083-66313815	A549	lung:	n/a	chr11:66313616-66313625
4	MAFK	chr11:66313105-66313235	Hela-S3	cervix:	n/a	n/a
5	ETS1	chr11:66313124-66313868	K562	blood:	n/a	chr11:66313749-66313760
6	POLR2A	chr11:66313041-66314021	K562	blood:	n/a	n/a
7	POLR2A	chr11:66313073-66314041	GM12892	blood:	n/a	n/a
8	SIN3A	chr11:66312892-66314105	GM12878	blood:	n/a	chr11:66313845-66313856
9	SIN3AK20	chr11:66312860-66314159	MCF-7	breast:	n/a	n/a
10	PAX5	chr11:66313188-66313809	GM12892	blood:	n/a	n/a
11	MYC	chr11:66313131-66313732	MCF-7	breast:	n/a	chr11:66313616-66313625
12	POLR2A	chr11:66313083-66314270	HUVEC	blood vessel:	n/a	n/a
13	GABPA	chr11:66313176-66313880	K562	blood:	n/a	chr11:66313749-66313758
14	MYC	chr11:66313188-66313540	HUVEC	blood vessel:	n/a	n/a
15	ELF1	chr11:66313164-66313967	HCT-116	colon:	n/a	chr11:66313512-66313525
16	ELF1	chr11:66313097-66314026	SK-N-SH	brain:	n/a	chr11:66313512-66313525
17	POLR2A	chr11:66312742-66314049	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr11:66313138-66313729	HepG2	liver:	n/a	n/a
19	POLR2A	chr11:66313108-66314021	U87	brain:	n/a	n/a
20	MAZ	chr11:66312969-66314341	GM12878	blood:	n/a	chr11:66313616-66313625 chr11:66314288-66314298
21	POLR2A	chr11:66313080-66313927	K562	blood:	n/a	n/a
22	TEAD4	chr11:66313130-66313883	K562	blood:	n/a	n/a
23	NFIC	chr11:66313122-66314196	GM12878	blood:	n/a	n/a
24	MAX	chr11:66313013-66314286	K562	blood:	n/a	chr11:66313616-66313625
25	POLR2A	chr11:66313182-66314714	GM12892	blood:	n/a	n/a
26	POLR2A	chr11:66313105-66314081	GM12878	blood:	n/a	n/a
27	SP1	chr11:66312923-66314025	HCT-116	colon:	n/a	chr11:66313135-66313144 chr11:66313747-66313759 chr11:66313135-66313145 chr11:66313134-66313146 chr11:66313136-66313145 chr11:66313557-66313578 chr11:66313710-66313720 chr11:66313747-66313759 chr11:66313135-66313149 chr11:66313134-66313146 chr11:66313748-66313757
28	MAX	chr11:66313006-66314321	A549	lung:	n/a	chr11:66313616-66313625 chr11:66314288-66314298
29	POLR2A	chr11:66313176-66313686	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr11:66313110-66313868	MCF-7	breast:	n/a	n/a
31	POLR2A	chr11:66313120-66313754	GM12892	blood:	n/a	n/a
32	POLR2A	chr11:66313053-66314126	H1-neurons	neurons:	n/a	n/a
33	MAX	chr11:66313060-66313915	SK-N-SH	brain:	n/a	chr11:66313616-66313625
34	NFIC	chr11:66313042-66313875	ECC-1	luminal epithelium:	n/a	n/a
35	PBX3	chr11:66313067-66313975	SK-N-SH	brain:	n/a	chr11:66313544-66313564
36	MAX	chr11:66313017-66314056	MCF-7	breast:	n/a	chr11:66313616-66313625
37	POLR2A	chr11:66313133-66314015	U87	brain:	n/a	n/a
38	YY1	chr11:66313181-66314103	K562	blood:	n/a	chr11:66313613-66313627
39	REST	chr11:66312992-66313703	A549	lung:	n/a	n/a
40	MYC	chr11:66313145-66313859	MCF10A-Er-Src	breast:	n/a	chr11:66313616-66313625
41	POLR2A	chr11:66313181-66314007	HUVEC	blood vessel:	n/a	n/a
42	HCFC1	chr11:66312730-66314132	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr11:66313167-66313813	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr11:66313166-66313757	K562	blood:	n/a	n/a
45	POLR2A	chr11:66313173-66314146	PANC-1	pancreas:	n/a	n/a
46	POLR2A	chr11:66313157-66313855	Gliobla	brain:	n/a	n/a
47	PBX3	chr11:66313113-66314004	SK-N-SH	brain:	n/a	chr11:66313544-66313564
48	FOXP2	chr11:66313175-66313827	PFSK-1	brain:	n/a	n/a
49	POLR2A	chr11:66313151-66313845	Hela-S3	cervix:	n/a	n/a
50	HDAC2	chr11:66313132-66314160	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:66290583..66293283-chr11:66311387..66313963,2	MCF-7	breast:
2	chr11:66313061..66314703-chr11:66495629..66497845,2	K562	blood:
3	chr11:66312205..66315427-chr11:66405180..66408532,5	MCF-7	breast:
4	chr11:66257407..66259570-chr11:66310749..66314431,3	MCF-7	breast:
5	chr11:66312120..66315858-chr11:66382093..66385516,4	K562	blood:
6	chr11:66304927..66310447-chr11:66310654..66314937,8	MCF-7	breast:
7	chr11:66311475..66316022-chr11:66335981..66338223,4	MCF-7	breast:
8	chr11:66246144..66249538-chr11:66312277..66316497,5	MCF-7	breast:
9	chr11:66312923..66315636-chr11:66381243..66385459,4	MCF-7	breast:
10	chr11:66311617..66317579-chr11:66325496..66333927,8	MCF-7	breast:
11	chr11:66246687..66248934-chr11:66312384..66314818,3	MCF-7	breast:
12	chr11:66312822..66313608-chr17:73775269..73776057,2	Hela-S3	cervix:
13	chr11:66312879..66315564-chr11:66382748..66385471,3	MCF-7	breast:
14	chr11:66310336..66313549-chr11:66442504..66446890,4	MCF-7	breast:
15	chr11:66310423..66314650-chr11:66409018..66412449,5	K562	blood:

Variant related genes	Relation type
ACTN3	TF binding region
ENSG00000173898	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000174080	Chromatin interaction
ENSG00000255517	Chromatin interaction
ENSG00000174483	Chromatin interaction
ENSG00000254986	Chromatin interaction
ENSG00000250105	Chromatin interaction
ENSG00000173933	Chromatin interaction
ENSG00000173914	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000269990	Chromatin interaction
ENSG00000199325	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10501397	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10896124	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10896125	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10896129	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11227495	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227497	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11227498	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227499	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227500	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227501	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227502	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227503	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227506	0.82[ASN][1000 genomes]
rs11227509	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11227510	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11227511	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11227512	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11227514	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11227515	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11227522	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11227523	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11227525	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11227527	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227534	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11550299	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11821155	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11822028	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11822099	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11824771	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12099041	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12221821	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12223479	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12272545	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17065	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17147644	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17496250	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17496586	0.95[EUR][1000 genomes]
rs17580784	0.84[EUR][1000 genomes]
rs2075792	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2276406	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2277302	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2279864	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2279865	0.84[EUR][1000 genomes]
rs2298806	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2305532	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2305533	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2305535	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28414721	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3179961	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35733139	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3737525	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3741360	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3816492	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3819247	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3825065	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3892818	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4542420	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4576	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4630309	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4930182	0.84[EUR][1000 genomes]
rs4930183	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4930377	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4930378	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4930379	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4930380	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56144989	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57045447	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57207756	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57288351	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57596493	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57634456	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57691879	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57724777	0.90[EUR][1000 genomes]
rs59829960	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59982644	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60358007	0.87[EUR][1000 genomes]
rs60645853	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61561111	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61582507	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7104378	0.84[EUR][1000 genomes]
rs7116921	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7116940	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7123176	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7928882	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7939759	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7943327	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7950407	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7950790	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[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	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
2	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
4	nsv897787	chr11:66300348-66347850	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2305534	CCS	Cis_1M	lymphoblastoid	RTeQTL
rs2305534	CTD-3074O7.5	cis	Esophagus Mucosa	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66310800-66313400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr11:66311000-66313400	Flanking Active TSS	Dnd41	blood
3	chr11:66312400-66313800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:66312400-66314000	Active TSS	GM12878-XiMat	blood
5	chr11:66312600-66313400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr11:66312600-66313400	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr11:66312600-66313800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:66312600-66313800	Active TSS	Colonic Mucosa	Colon
9	chr11:66312600-66314000	Active TSS	A549	lung
10	chr11:66312600-66314200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:66312600-66314200	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr11:66312600-66314200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:66312600-66314200	Active TSS	HSMM	muscle
14	chr11:66312600-66314400	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr11:66312600-66314600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr11:66312600-66314800	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr11:66312600-66314800	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr11:66312600-66315000	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr11:66312600-66315000	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr11:66312800-66313400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr11:66312800-66313400	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr11:66312800-66313400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:66312800-66313400	Flanking Active TSS	Brain Cingulate Gyrus	brain
24	chr11:66312800-66313400	Active TSS	Brain Germinal Matrix	brain
25	chr11:66312800-66313400	Enhancers	Fetal Heart	heart
26	chr11:66312800-66313400	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr11:66312800-66313400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr11:66312800-66313400	Flanking Active TSS	NH-A	brain
29	chr11:66312800-66313800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:66312800-66313800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr11:66312800-66313800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:66312800-66313800	Active TSS	Lung	lung
33	chr11:66312800-66313800	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr11:66312800-66313800	Active TSS	HSMMtube	muscle
35	chr11:66312800-66314000	Active TSS	Brain Angular Gyrus	brain
36	chr11:66312800-66314000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:66312800-66314200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr11:66312800-66314200	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr11:66312800-66314200	Active TSS	Fetal Kidney	kidney
40	chr11:66312800-66314200	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr11:66312800-66314200	Active TSS	Ovary	ovary
42	chr11:66312800-66314400	Active TSS	Psoas Muscle	Psoas
43	chr11:66312800-66314400	Active TSS	Right Atrium	heart
44	chr11:66312800-66314400	Active TSS	NHLF	lung
45	chr11:66312800-66314600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:66312800-66314800	Active TSS	H1 Cell Line	embryonic stem cell
47	chr11:66312800-66314800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:66312800-66315200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:66312800-66315400	Active TSS	H9 Cell Line	embryonic stem cell
50	chr11:66312800-66316000	Active TSS	iPS-15b Cell Line	embryonic stem cell

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