Variant report

Variant	rs2233352
Chromosome Location	chr11:47601062-47601063
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	POLR2A	chr11:47600015-47601283	K562	blood:	n/a	n/a
2	SIN3AK20	chr11:47599853-47601201	MCF-7	breast:	n/a	n/a
3	GABPA	chr11:47600029-47601264	HL-60	blood:	n/a	n/a
4	POLR2A	chr11:47598947-47601303	HepG2	liver:	n/a	n/a
5	GABPA	chr11:47599842-47601517	A549	lung:	n/a	n/a
6	GABPA	chr11:47600078-47601088	Hela-S3	cervix:	n/a	n/a
7	MYBL2	chr11:47600207-47601254	HepG2	liver:	n/a	n/a
8	STAT5A	chr11:47600278-47601159	GM12878	blood:	n/a	chr11:47600325-47600337
9	SIN3A	chr11:47599981-47601334	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr11:47600004-47601108	HepG2	liver:	n/a	chr11:47600357-47600367
11	TCF12	chr11:47599721-47601164	A549	lung:	n/a	chr11:47600724-47600731
12	POLR2A	chr11:47599826-47601125	K562	blood:	n/a	n/a
13	MAX	chr11:47600152-47601157	K562	blood:	n/a	chr11:47600357-47600367
14	MAX	chr11:47599940-47601123	A549	lung:	n/a	chr11:47600357-47600367
15	MXI1	chr11:47599391-47601719	IMR90	lung:	n/a	chr11:47600255-47600270 chr11:47600242-47600257 chr11:47600257-47600272
16	GABPA	chr11:47599918-47601174	SK-N-SH	brain:	n/a	n/a
17	YY1	chr11:47600062-47601137	ECC-1	luminal epithelium:	n/a	chr11:47600324-47600335 chr11:47600356-47600370 chr11:47600639-47600651
18	MAX	chr11:47600053-47601072	K562	blood:	n/a	chr11:47600357-47600367
19	MTA3	chr11:47600298-47601191	GM12878	blood:	n/a	n/a
20	TEAD4	chr11:47600147-47601189	K562	blood:	n/a	n/a
21	RELA	chr11:47600257-47601077	GM18951	blood:	n/a	n/a
22	POLR2A	chr11:47599937-47601067	ECC-1	luminal epithelium:	n/a	n/a
23	GABPA	chr11:47600042-47601076	HL-60	blood:	n/a	n/a
24	RAD21	chr11:47600032-47601423	IMR90	lung:	n/a	chr11:47600179-47600189
25	YY1	chr11:47599906-47601298	SK-N-SH	brain:	n/a	chr11:47600324-47600335 chr11:47600356-47600370 chr11:47600639-47600651
26	TAF1	chr11:47600100-47601163	A549	lung:	n/a	n/a
27	ELK1	chr11:47600200-47601084	Hela-S3	cervix:	n/a	n/a
28	PML	chr11:47599959-47601066	MCF-7	breast:	n/a	chr11:47600403-47600411
29	YY1	chr11:47599949-47601073	H1-hESC	embryonic stem cell:	n/a	chr11:47600324-47600335 chr11:47600356-47600370 chr11:47600639-47600651
30	POLR2A	chr11:47600003-47601065	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:47599826-47601287	K562	blood:	n/a	n/a
32	GABPA	chr11:47600002-47601164	SK-N-SH	brain:	n/a	n/a
33	GABPA	chr11:47600077-47601100	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr11:47599050-47601299	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr11:47599957-47601165	HL-60	blood:	n/a	n/a
36	POLR2A	chr11:47599858-47601145	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr11:47599842-47601344	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr11:47599847-47601072	GM12892	blood:	n/a	n/a
39	ESRRA	chr11:47599599-47601509	GM12878	blood:	n/a	chr11:47600581-47600593 chr11:47600950-47600966
40	NFIC	chr11:47600152-47601064	GM12878	blood:	n/a	n/a
41	GABPA	chr11:47599953-47601121	K562	blood:	n/a	n/a
42	SIX5	chr11:47600042-47601066	A549	lung:	n/a	n/a
43	POLR2A	chr11:47599543-47601162	GM12891	blood:	n/a	n/a
44	TAF1	chr11:47600055-47601123	ECC-1	luminal epithelium:	n/a	n/a
45	HCFC1	chr11:47598483-47602649	Hela-S3	cervix:	n/a	n/a
46	MAZ	chr11:47600099-47601162	K562	blood:	n/a	chr11:47600357-47600367
47	POLR2A	chr11:47599998-47601064	H1-hESC	embryonic stem cell:	n/a	n/a
48	GABPA	chr11:47599920-47601562	A549	lung:	n/a	n/a
49	POLR2A	chr11:47599904-47601222	PBDE	blood:	n/a	n/a
50	YY1	chr11:47599973-47601104	SK-N-SH_RA	brain:	n/a	chr11:47600324-47600335 chr11:47600356-47600370 chr11:47600639-47600651

No.	Distal block	Cell Line	Cell type
1	chr11:47572291..47576392-chr11:47598056..47603377,7	K562	blood:
2	chr11:47600406..47601156-chr2:131113338..131114099,2	Hela-S3	cervix:
3	chr10:71929820..71930627-chr11:47600484..47601328,2	HCT-116	colon:
4	chr11:47599594..47601938-chr11:47869864..47871887,2	K562	blood:
5	chr11:47597275..47600063-chr11:47600255..47602444,2	MCF-7	breast:
6	chr11:47599184..47601918-chr11:47661794..47664226,4	MCF-7	breast:
7	chr11:47597915..47601799-chr11:47868286..47871887,4	K562	blood:
8	chr11:47600656..47601156-chr6:109703245..109703989,2	Hela-S3	cervix:
9	chr11:47585423..47588969-chr11:47597747..47604797,13	K562	blood:
10	chr11:47426650..47429548-chr11:47599829..47602825,2	MCF-7	breast:
11	chr11:47572538..47574748-chr11:47599210..47602112,3	MCF-7	breast:
12	chr11:47599811..47601393-chr11:47661829..47664063,2	K562	blood:
13	chr11:47573178..47576577-chr11:47600513..47602811,3	K562	blood:

Variant related genes	Relation type
KBTBD4	TF binding region
NDUFS3	TF binding region
RNU5E-10P	TF binding region
ENSG00000079332	Chromatin interaction
ENSG00000030066	Chromatin interaction
ENSG00000109919	Chromatin interaction
ENSG00000135535	Chromatin interaction
ENSG00000110536	Chromatin interaction
ENSG00000149187	Chromatin interaction
ENSG00000231880	Chromatin interaction
ENSG00000200376	Chromatin interaction
ENSG00000072135	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000213619	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11820800	1.00[AMR][1000 genomes]
rs11823225	1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs11828511	1.00[AMR][1000 genomes]
rs34136118	1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs35040940	1.00[AMR][1000 genomes]
rs35885662	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv314	chr11:47561564-47606256	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv825872	chr11:47565425-47660330	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47599000-47601200	Active TSS	Fetal Kidney	kidney
2	chr11:47599600-47601600	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr11:47599600-47601800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr11:47599800-47601200	Active TSS	Muscle Satellite Cultured Cells	--
5	chr11:47599800-47601200	Active TSS	Aorta	Aorta
6	chr11:47599800-47601200	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr11:47599800-47601200	Active TSS	Fetal Brain Female	brain
8	chr11:47599800-47601400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr11:47599800-47601400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr11:47599800-47601400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:47599800-47601400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:47599800-47601400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:47599800-47601400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:47599800-47601400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:47599800-47601400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:47599800-47601400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:47599800-47601400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:47599800-47601400	Active TSS	Lung	lung
19	chr11:47599800-47601400	Active TSS	Ovary	ovary
20	chr11:47599800-47601400	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr11:47599800-47601400	Active TSS	Small Intestine	intestine
22	chr11:47599800-47601400	Active TSS	HSMM	muscle
23	chr11:47599800-47601400	Active TSS	NHDF-Ad	bronchial
24	chr11:47599800-47601600	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr11:47599800-47601600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:47599800-47601600	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr11:47599800-47601600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:47599800-47601600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:47599800-47601600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:47599800-47601600	Active TSS	Gastric	stomach
31	chr11:47599800-47601800	Active TSS	H9 Cell Line	embryonic stem cell
32	chr11:47599800-47601800	Active TSS	Left Ventricle	heart
33	chr11:47599800-47601800	Active TSS	Right Ventricle	heart
34	chr11:47599800-47602000	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr11:47599800-47602000	Active TSS	Psoas Muscle	Psoas
36	chr11:47600000-47601200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:47600000-47601200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:47600000-47601200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:47600000-47601200	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr11:47600000-47601200	Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr11:47600000-47601200	Active TSS	Brain Anterior Caudate	brain
42	chr11:47600000-47601200	Active TSS	Brain Hippocampus Middle	brain
43	chr11:47600000-47601200	Active TSS	Brain Substantia Nigra	brain
44	chr11:47600000-47601200	Active TSS	Colonic Mucosa	Colon
45	chr11:47600000-47601200	Active TSS	Colon Smooth Muscle	Colon
46	chr11:47600000-47601200	Active TSS	Fetal Stomach	stomach
47	chr11:47600000-47601200	Active TSS	Rectal Smooth Muscle	rectum
48	chr11:47600000-47601200	Bivalent/Poised TSS	HepG2	liver
49	chr11:47600000-47601200	Active TSS	NHEK	skin
50	chr11:47600000-47601400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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