Variant report

Variant	rs11042121
Chromosome Location	chr11:8932640-8932641
allele	A/C/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	SMARCB1	chr11:8932563-8933413	Hela-S3	cervix:	n/a	n/a
2	ZMIZ1	chr11:8932593-8933178	K562	blood:	n/a	n/a
3	SIN3AK20	chr11:8932495-8933025	PFSK-1	brain:	n/a	n/a
4	CEBPD	chr11:8932586-8932909	HepG2	liver:	n/a	n/a
5	HEY1	chr11:8932517-8932968	K562	blood:	n/a	chr11:8932689-8932704 chr11:8932686-8932701 chr11:8932843-8932858
6	POLR2A	chr11:8932518-8932915	K562	blood:	n/a	n/a
7	NRF1	chr11:8932416-8932950	GM12878	blood:	n/a	chr11:8932745-8932754 chr11:8932743-8932752 chr11:8932743-8932757 chr11:8932685-8932699 chr11:8932743-8932754 chr11:8932742-8932753 chr11:8932687-8932698 chr11:8932740-8932754
8	POLR2A	chr11:8932409-8933364	K562	blood:	n/a	n/a
9	POLR2A	chr11:8932518-8933340	GM18526	blood:	n/a	n/a
10	ELF1	chr11:8932514-8932972	MCF-7	breast:	n/a	chr11:8932696-8932705
11	CTCF	chr11:8932600-8932750	HCPEpiC	choroid plexus:	n/a	n/a
12	PAX5	chr11:8932512-8933308	GM12892	blood:	n/a	chr11:8932689-8932698 chr11:8932819-8932828
13	MAX	chr11:8932432-8932739	HepG2	liver:	n/a	n/a
14	POLR2A	chr11:8932378-8933358	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr11:8932575-8933007	GM12892	blood:	n/a	n/a
16	MYC	chr11:8932280-8933361	K562	blood:	n/a	chr11:8932402-8932411
17	REST	chr11:8932607-8933147	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr11:8932499-8933221	GM12892	blood:	n/a	n/a
19	MAX	chr11:8932504-8933496	ECC-1	luminal epithelium:	n/a	n/a
20	NR2F2	chr11:8932530-8932934	K562	blood:	n/a	n/a
21	ETS1	chr11:8932589-8933020	A549	lung:	n/a	n/a
22	JUND	chr11:8932552-8932685	H1-hESC	embryonic stem cell:	n/a	n/a
23	MYC	chr11:8932421-8933284	NB4	blood:	n/a	n/a
24	CTCF	chr11:8932600-8932750	GM12871	blood:	n/a	n/a
25	POLR2A	chr11:8932446-8933296	K562	blood:	n/a	n/a
26	SIN3A	chr11:8932602-8933492	H1-hESC	embryonic stem cell:	n/a	chr11:8932616-8932627
27	CTCF	chr11:8932580-8932730	AG04449	skin:	n/a	n/a
28	POLR2A	chr11:8932421-8933297	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:8932404-8933377	NB4	blood:	n/a	n/a
30	MAX	chr11:8932513-8932919	MCF-7	breast:	n/a	n/a
31	JUND	chr11:8932513-8933305	A549	lung:	n/a	n/a
32	E2F6	chr11:8932528-8932881	H1-hESC	embryonic stem cell:	n/a	chr11:8932691-8932701 chr11:8932744-8932753 chr11:8932689-8932698
33	MAX	chr11:8932531-8933295	GM12878	blood:	n/a	n/a
34	YY1	chr11:8932534-8932905	HCT-116	colon:	n/a	chr11:8932694-8932708 chr11:8932693-8932702 chr11:8932691-8932705 chr11:8932616-8932627
35	CTCF	chr11:8932599-8932856	GM12878	blood:	n/a	n/a
36	ETS1	chr11:8932480-8932921	K562	blood:	n/a	n/a
37	MAX	chr11:8932355-8933433	HepG2	liver:	n/a	chr11:8932402-8932411
38	POLR2A	chr11:8932488-8933431	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr11:8932421-8933338	PFSK-1	brain:	n/a	n/a
40	TAF1	chr11:8932590-8932948	K562	blood:	n/a	n/a
41	POLR2A	chr11:8932514-8933308	Hela-S3	cervix:	n/a	n/a
42	TCF12	chr11:8932509-8933193	ECC-1	luminal epithelium:	n/a	chr11:8932683-8932693
43	E2F6	chr11:8932501-8932815	K562	blood:	n/a	chr11:8932691-8932701 chr11:8932744-8932753 chr11:8932689-8932698
44	POLR2A	chr11:8932482-8933354	GM19099	blood:	n/a	n/a
45	HEY1	chr11:8932474-8933022	HepG2	liver:	n/a	chr11:8932689-8932704 chr11:8932686-8932701 chr11:8932843-8932858
46	ELF1	chr11:8932508-8933354	GM12878	blood:	n/a	chr11:8932696-8932705 chr11:8933228-8933240
47	POLR2A	chr11:8932487-8933289	GM12878	blood:	n/a	n/a
48	ZBTB7A	chr11:8932277-8933452	ECC-1	luminal epithelium:	n/a	chr11:8932814-8932821
49	MAX	chr11:8932472-8933456	K562	blood:	n/a	n/a
50	POLR2A	chr11:8932519-8933145	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:8932607-8932657	CMK	blood:	n/a
2	chr11:8932607-8932657	BJ	skin:	n/a
3	chr11:8932607-8932657	K562	blood:	n/a
4	chr11:8932607-8932657	NB4	blood:	n/a
5	chr11:8932607-8932657	GM19239	blood:	n/a
6	chr11:8932607-8932657	AG09319	gingival:	n/a
7	chr11:8932607-8932657	HPAEpiC	pulmonary alveolar:	n/a
8	chr11:8932607-8932657	PFSK-1	brain:	n/a
9	chr11:8932607-8932657	Caco-2	colon:	n/a
10	chr11:8932607-8932657	HEEpiC	esophagus:	n/a
11	chr11:8932607-8932657	NHBE	bronchial:	n/a
12	chr11:8932607-8932657	AoSMC	blood vessel:	n/a
13	chr11:8932607-8932657	GM12892	blood:	n/a
14	chr11:8932607-8932657	Hepatocyte	liver:	n/a
15	chr11:8932607-8932657	HAEpiC	amniotic membrane:	n/a
16	chr11:8932607-8932657	RPTEC	kidney:	n/a
17	chr11:8932607-8932657	IMR90	lung:	fetal
18	chr11:8932607-8932657	SKMC	muscle:	n/a
19	chr11:8932607-8932657	AG04450	lung:	fetal
20	chr11:8932607-8932657	HepG2	liver:	n/a
21	chr11:8932607-8932657	NHDF-neo	bronchial:	n/a
22	chr11:8932607-8932657	MCF10A-Er-Src	breast:	n/a
23	chr11:8932607-8932657	HCT-116	colon:	n/a
24	chr11:8932607-8932657	PANC-1	pancreas:	n/a
25	chr11:8932607-8932657	Jurkat	blood:	n/a
26	chr11:8932607-8932657	HL-60	blood:	n/a
27	chr11:8932607-8932657	HRE	kidney:	n/a
28	chr11:8932607-8932657	LNCaP	prostate:	n/a
29	chr11:8932607-8932657	A549	lung:	n/a
30	chr11:8932607-8932657	AG10803	skin:	n/a
31	chr11:8932607-8932657	GM12891	blood:	n/a
32	chr11:8932607-8932657	HCM	heart:	n/a
33	chr11:8932607-8932657	MCF-7	breast:	n/a
34	chr11:8932607-8932657	SAEC	small airway:	n/a
35	chr11:8932607-8932657	AG04449	skin:	fetal
36	chr11:8932607-8932657	HEK293	kidney:	embryo
37	chr11:8932607-8932657	BE2_C	brain:	n/a
38	chr11:8932607-8932657	NT2-D1	testis:	n/a
39	chr11:8932607-8932657	HIPEpiC	eye:	n/a
40	chr11:8932607-8932657	SK-N-MC	brain:	n/a
41	chr11:8932607-8932657	ECC-1	luminal epithelium:	n/a
42	chr11:8932607-8932657	GM06990	blood:	n/a
43	chr11:8932607-8932657	H1-hESC	embryonic stem cell:	embryo
44	chr11:8932607-8932657	HCPEpiC	choroid plexus:	n/a
45	chr11:8932607-8932657	AG09309	skin:	n/a
46	chr11:8932607-8932657	HRCEpiC	kidney:	n/a
47	chr11:8932607-8932657	HNPCEpiC	eye:	n/a
48	chr11:8932607-8932657	ProgFib	skin:	n/a
49	chr11:8932607-8932657	HMEC	breast:	n/a
50	chr11:8932607-8932657	SK-N-SH	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:8702711..8705833-chr11:8931238..8933056,3	K562	blood:
2	chr11:8709340..8711728-chr11:8931222..8932960,2	MCF-7	breast:
3	chr11:8930312..8933119-chr11:9023959..9026944,2	K562	blood:
4	chr11:8930312..8934560-chr11:9023959..9026944,3	K562	blood:
5	chr11:8702257..8705886-chr11:8931185..8934379,5	MCF-7	breast:
6	chr11:8891163..8893518-chr11:8931818..8934397,2	MCF-7	breast:
7	chr11:8931659..8933906-chr11:8984325..8986430,2	K562	blood:
8	chr11:8723990..8726026-chr11:8932554..8934656,2	K562	blood:
9	chr11:8932589..8934691-chr11:10326254..10327939,2	MCF-7	breast:

Variant related genes	Relation type
AKIP1	TF binding region
ST5	TF binding region
ST5	CpG island
AKIP1	CpG island
ENSG00000175348	Chromatin interaction
ENSG00000148926	Chromatin interaction
ENSG00000166441	Chromatin interaction
ENSG00000254860	Chromatin interaction
ENSG00000253973	Chromatin interaction
ENSG00000166444	Chromatin interaction
ENSG00000200983	Chromatin interaction
ENSG00000175352	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10219366	0.85[EUR][1000 genomes]
rs10734639	0.81[AMR][1000 genomes]
rs10743094	0.81[AMR][1000 genomes]
rs10769976	0.86[EUR][1000 genomes]
rs10840156	0.86[EUR][1000 genomes]
rs12798311	0.89[EUR][1000 genomes]
rs2016844	0.88[EUR][1000 genomes]
rs2056903	0.88[EUR][1000 genomes]
rs2246878	0.88[EUR][1000 genomes]
rs2247038	0.88[EUR][1000 genomes]
rs2568034	0.86[EUR][1000 genomes]
rs2568042	0.84[EUR][1000 genomes]
rs2568074	0.88[EUR][1000 genomes]
rs2568075	0.88[EUR][1000 genomes]
rs2568077	0.88[EUR][1000 genomes]
rs2568079	0.86[EUR][1000 genomes]
rs2568086	0.85[EUR][1000 genomes]
rs2653565	0.84[EUR][1000 genomes]
rs2653601	0.88[EUR][1000 genomes]
rs2653611	0.86[EUR][1000 genomes]
rs2742495	0.85[EUR][1000 genomes]
rs2742496	0.85[EUR][1000 genomes]
rs2742497	0.86[EUR][1000 genomes]
rs2742504	0.86[EUR][1000 genomes]
rs2742505	0.86[EUR][1000 genomes]
rs2742512	0.88[EUR][1000 genomes]
rs2742513	0.88[EUR][1000 genomes]
rs2742521	0.85[EUR][1000 genomes]
rs3751063	0.86[EUR][1000 genomes]
rs4909951	0.86[EUR][1000 genomes]
rs4910181	0.81[EUR][1000 genomes]
rs909464	0.88[EUR][1000 genomes]
rs9300096	0.86[EUR][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	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11042121	C11orf17	cis	multi-tissue	Pritchard
rs11042121	C11orf17	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8931200-8933800	Active TSS	Brain Anterior Caudate	brain
2	chr11:8931400-8933800	Active TSS	Brain Angular Gyrus	brain
3	chr11:8931400-8933800	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr11:8931400-8933800	Active TSS	Fetal Lung	lung
5	chr11:8931400-8934000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr11:8931400-8934000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:8931400-8934000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:8931400-8934000	Active TSS	Rectal Smooth Muscle	rectum
9	chr11:8931400-8934200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:8931600-8933400	Active TSS	Lung	lung
11	chr11:8931600-8933600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:8931600-8933600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:8931600-8933800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:8931600-8933800	Active TSS	Brain Germinal Matrix	brain
15	chr11:8931600-8933800	Active TSS	Esophagus	oesophagus
16	chr11:8931600-8934000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:8931600-8934000	Active TSS	Colonic Mucosa	Colon
18	chr11:8931600-8934000	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr11:8931600-8934000	Active TSS	Ovary	ovary
20	chr11:8931600-8934000	Active TSS	Right Atrium	heart
21	chr11:8931600-8934400	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr11:8931600-8935200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:8931800-8933000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:8931800-8933600	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr11:8931800-8933800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:8931800-8933800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:8931800-8933800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:8931800-8933800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:8931800-8933800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:8931800-8933800	Active TSS	Primary T cells from cord blood	blood
31	chr11:8931800-8933800	Active TSS	Muscle Satellite Cultured Cells	--
32	chr11:8931800-8933800	Active TSS	Aorta	Aorta
33	chr11:8931800-8933800	Active TSS	Brain Hippocampus Middle	brain
34	chr11:8931800-8933800	Active TSS	Colon Smooth Muscle	Colon
35	chr11:8931800-8933800	Active TSS	Fetal Heart	heart
36	chr11:8931800-8933800	Active TSS	Placenta Amnion	Placenta Amnion
37	chr11:8931800-8933800	Active TSS	A549	lung
38	chr11:8931800-8933800	Active TSS	HepG2	liver
39	chr11:8931800-8934000	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr11:8931800-8934000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:8931800-8934000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:8931800-8934000	Active TSS	HSMM	muscle
43	chr11:8931800-8934000	Active TSS	HSMMtube	muscle
44	chr11:8931800-8934200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:8931800-8934200	Active TSS	Fetal Brain Female	brain
46	chr11:8931800-8934200	Active TSS	Fetal Kidney	kidney
47	chr11:8931800-8934200	Active TSS	Thymus	Thymus
48	chr11:8931800-8934400	Active TSS	Brain Substantia Nigra	brain
49	chr11:8932000-8932800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr11:8932000-8932800	Active TSS	Primary T helper cells PMA-I stimulated	--

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