Variant report

Variant	rs11229842
Chromosome Location	chr11:58912664-58912665
allele	C/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	MXI1	chr11:58911027-58913404	IMR90	lung:	n/a	n/a
2	POLR2A	chr11:58911418-58912899	GM12878	blood:	n/a	n/a
3	RAD21	chr11:58912279-58912706	H1-hESC	embryonic stem cell:	n/a	chr11:58912559-58912569
4	RCOR1	chr11:58911957-58912932	K562	blood:	n/a	n/a
5	MAX	chr11:58911719-58912886	A549	lung:	n/a	chr11:58911800-58911809
6	POLR2A	chr11:58911921-58912708	PANC-1	pancreas:	n/a	n/a
7	MAX	chr11:58911729-58912890	HCT-116	colon:	n/a	chr11:58911800-58911809
8	MAX	chr11:58911846-58912860	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr11:58912020-58912684	Gliobla	brain:	n/a	n/a
10	POLR2A	chr11:58909722-58913181	GM12891	blood:	n/a	n/a
11	POLR2A	chr11:58911622-58913239	Hela-S3	cervix:	n/a	n/a
12	ZNF143	chr11:58912135-58912870	H1-hESC	embryonic stem cell:	n/a	chr11:58912565-58912583 chr11:58912378-58912396 chr11:58912442-58912460
13	MAX	chr11:58911945-58912845	H1-hESC	embryonic stem cell:	n/a	n/a
14	ELF1	chr11:58912109-58912731	GM12878	blood:	n/a	n/a
15	GTF2F1	chr11:58912004-58912869	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr11:58911886-58912747	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr11:58911942-58912720	K562	blood:	n/a	n/a
18	POLR2A	chr11:58911373-58912958	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:58911969-58912703	ProgFib	skin:	n/a	n/a
20	MXI1	chr11:58911991-58912689	Hela-S3	cervix:	n/a	n/a
21	RFX5	chr11:58911663-58913329	Hela-S3	cervix:	n/a	n/a
22	HA-E2F1	chr11:58912080-58912666	Hela-S3	cervix:	n/a	chr11:58912270-58912277 chr11:58912269-58912281 chr11:58912313-58912324 chr11:58912563-58912572 chr11:58912270-58912277 chr11:58912229-58912243 chr11:58912270-58912277 chr11:58912265-58912280 chr11:58912242-58912251 chr11:58912269-58912278
23	TCF12	chr11:58911718-58912859	A549	lung:	n/a	chr11:58912258-58912268 chr11:58912340-58912348
24	BHLHE40	chr11:58911899-58912677	K562	blood:	n/a	n/a
25	E2F6	chr11:58911962-58912726	Hela-S3	cervix:	n/a	chr11:58912270-58912277 chr11:58912269-58912281 chr11:58912563-58912572 chr11:58912270-58912277 chr11:58912268-58912279 chr11:58912314-58912325 chr11:58912229-58912243 chr11:58912270-58912277 chr11:58912265-58912280 chr11:58912242-58912251 chr11:58912269-58912278
26	ELF1	chr11:58911807-58912774	HCT-116	colon:	n/a	n/a
27	FOXM1	chr11:58911709-58912750	GM12878	blood:	n/a	n/a
28	E2F4	chr11:58912042-58912799	K562	blood:	n/a	chr11:58912270-58912277 chr11:58912269-58912281 chr11:58912563-58912572 chr11:58912270-58912277 chr11:58912229-58912243 chr11:58912270-58912277 chr11:58912268-58912279 chr11:58912265-58912280 chr11:58912242-58912251 chr11:58912269-58912278
29	SIN3AK20	chr11:58911782-58912769	MCF-7	breast:	n/a	n/a
30	MAX	chr11:58911955-58912725	K562	blood:	n/a	n/a
31	MAX	chr11:58911801-58912824	A549	lung:	n/a	n/a
32	POLR2A	chr11:58911652-58912781	GM18526	blood:	n/a	n/a
33	MYC	chr11:58911767-58912665	K562	blood:	n/a	chr11:58911800-58911809
34	E2F4	chr11:58911909-58912671	Hela-S3	cervix:	n/a	chr11:58912270-58912277 chr11:58912269-58912281 chr11:58912563-58912572 chr11:58912270-58912277 chr11:58912229-58912243 chr11:58912270-58912277 chr11:58912268-58912279 chr11:58912265-58912280 chr11:58912242-58912251 chr11:58912269-58912278
35	UBTF	chr11:58912131-58912832	K562	blood:	n/a	n/a
36	MAX	chr11:58911823-58912807	HCT-116	colon:	n/a	n/a
37	MTA3	chr11:58911525-58912817	GM12878	blood:	n/a	n/a
38	SIN3AK20	chr11:58912080-58912929	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr11:58911892-58912962	Hela-S3	cervix:	n/a	n/a
40	MAX	chr11:58911965-58912717	K562	blood:	n/a	n/a
41	POLR2A	chr11:58911782-58912698	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chr11:58912004-58912699	GM12878	blood:	n/a	n/a
43	CTCF	chr11:58912520-58912670	Caco-2	colon:	n/a	n/a
44	POLR2A	chr11:58911588-58913077	GM18505	blood:	n/a	n/a
45	CHD2	chr11:58912006-58912779	H1-hESC	embryonic stem cell:	n/a	chr11:58912562-58912572
46	TEAD4	chr11:58912608-58912925	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr11:58912096-58912696	HUVEC	blood vessel:	n/a	n/a
48	CTCF	chr11:58912262-58912689	K562	blood:	n/a	n/a
49	POLR2A	chr11:58911970-58912728	HCT-116	colon:	n/a	n/a
50	POLR2A	chr11:58911621-58912816	GM18951	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:58911158..58913877-chr11:58937423..58939058,2	K562	blood:
2	chr11:58408491..58410275-chr11:58912566..58915086,2	K562	blood:
3	chr11:58904183..58908174-chr11:58910132..58913359,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255381	TF binding region
ENSG00000245571	TF binding region
FAM111A	TF binding region
ENSG00000110042	Chromatin interaction
ENSG00000245571	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1048374	1.00[EUR][1000 genomes]
rs11229810	1.00[EUR][1000 genomes]
rs11229821	1.00[EUR][1000 genomes]
rs11229825	1.00[EUR][1000 genomes]
rs11229829	1.00[EUR][1000 genomes]
rs11229831	1.00[EUR][1000 genomes]
rs11229832	1.00[EUR][1000 genomes]
rs11229835	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229836	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229838	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229841	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229843	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11229844	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229845	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229847	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229853	1.00[ASN][1000 genomes]
rs11229858	0.91[ASN][1000 genomes]
rs11229862	0.81[ASN][1000 genomes]
rs12221768	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12222675	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12223085	1.00[ASN][1000 genomes]
rs12223473	1.00[EUR][1000 genomes]
rs12225532	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12225972	1.00[ASN][1000 genomes]
rs17153381	1.00[EUR][1000 genomes]
rs2154626	1.00[EUR][1000 genomes]
rs2154627	1.00[EUR][1000 genomes]
rs2154964	1.00[EUR][1000 genomes]
rs2154965	1.00[EUR][1000 genomes]
rs35732637	1.00[EUR][1000 genomes]
rs55742277	1.00[EUR][1000 genomes]
rs56349021	1.00[EUR][1000 genomes]
rs57969871	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58277547	1.00[ASN][1000 genomes]
rs60519524	1.00[EUR][1000 genomes]
rs60795438	1.00[EUR][1000 genomes]
rs60883299	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv2758272	chr11:58700092-59008673	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2759830	chr11:58700092-59008673	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv430388	chr11:58769524-58925824	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 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	chr11:58908800-58913600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:58909400-58913200	Active TSS	H1 Cell Line	embryonic stem cell
3	chr11:58909400-58913400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:58909400-58913400	Active TSS	NHDF-Ad	bronchial
5	chr11:58909400-58914000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr11:58910600-58913000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr11:58910600-58913000	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr11:58910600-58913200	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr11:58910600-58913400	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr11:58910600-58913400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:58910600-58913400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:58910600-58913400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:58910800-58912800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr11:58910800-58913000	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr11:58910800-58913400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:58910800-58913600	Flanking Active TSS	HUVEC	blood vessel
17	chr11:58910800-58914200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr11:58911000-58912800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr11:58911000-58912800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr11:58911000-58913600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:58911200-58913800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr11:58911400-58913000	Flanking Active TSS	Fetal Stomach	stomach
23	chr11:58911400-58914000	Enhancers	HepG2	liver
24	chr11:58911600-58912800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:58911600-58912800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr11:58911600-58912800	Flanking Active TSS	Liver	Liver
27	chr11:58911600-58913000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr11:58911600-58913000	Flanking Active TSS	Fetal Muscle Leg	muscle
29	chr11:58911600-58913000	Flanking Active TSS	NHLF	lung
30	chr11:58911600-58913200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr11:58911600-58913200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr11:58911800-58912800	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr11:58911800-58912800	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr11:58911800-58913000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr11:58911800-58913000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr11:58911800-58913000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:58911800-58913000	Flanking Active TSS	Fetal Heart	heart
38	chr11:58911800-58913000	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr11:58911800-58913200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr11:58911800-58913400	Active TSS	NH-A	brain
41	chr11:58912000-58912800	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr11:58912000-58912800	Flanking Active TSS	Pancreas	Pancrea
43	chr11:58912000-58912800	Active TSS	A549	lung
44	chr11:58912000-58913000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
45	chr11:58912000-58913000	Active TSS	H9 Cell Line	embryonic stem cell
46	chr11:58912000-58913000	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr11:58912000-58913000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:58912000-58913200	Flanking Active TSS	Brain Germinal Matrix	brain
49	chr11:58912000-58913400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:58912000-58913400	Active TSS	Fetal Kidney	kidney

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