Variant report

Variant	rs2166583
Chromosome Location	chr11:92930646-92930647
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	TCF12	chr11:92930171-92931335	A549	lung:	n/a	n/a
2	POLR2A	chr11:92930210-92931455	SK-N-MC	brain:	n/a	n/a
3	FOS	chr11:92930467-92930818	MCF10A-Er-Src	breast:	n/a	chr11:92930592-92930601 chr11:92930621-92930632
4	E2F1	chr11:92930500-92931371	Hela-S3	cervix:	n/a	chr11:92931195-92931207
5	POLR2A	chr11:92930273-92931522	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr11:92929821-92931592	MCF10A-Er-Src	breast:	n/a	n/a
7	PML	chr11:92930226-92931104	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:92930209-92931363	Hela-S3	cervix:	n/a	n/a
9	ZNF143	chr11:92930012-92930735	H1-hESC	embryonic stem cell:	n/a	chr11:92930661-92930676
10	CTCF	chr11:92930545-92930703	Spleen_OC	spleen:	n/a	n/a
11	SIN3AK20	chr11:92930226-92930893	PANC-1	pancreas:	n/a	n/a
12	ZBTB7A	chr11:92930620-92931453	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr11:92930308-92931445	HCT-116	colon:	n/a	n/a
14	TAF1	chr11:92930358-92930941	GM12878	blood:	n/a	n/a
15	EGR1	chr11:92930391-92931375	HCT-116	colon:	n/a	chr11:92930921-92930935 chr11:92930922-92930935 chr11:92930900-92930909 chr11:92930899-92930912 chr11:92931150-92931159 chr11:92930922-92930935 chr11:92930923-92930934 chr11:92930900-92930911 chr11:92930919-92930933 chr11:92930923-92930933 chr11:92930866-92930879 chr11:92930922-92930935 chr11:92930896-92930910
16	POLR2A	chr11:92930327-92931469	GM18505	blood:	n/a	n/a
17	POLR2A	chr11:92929827-92931963	MCF10A-Er-Src	breast:	n/a	n/a
18	YY1	chr11:92930305-92931329	GM12892	blood:	n/a	chr11:92931018-92931027 chr11:92931179-92931193
19	POLR2A	chr11:92930364-92931287	GM18951	blood:	n/a	n/a
20	REST	chr11:92930629-92930929	A549	lung:	n/a	n/a
21	EGR1	chr11:92930615-92931177	H1-hESC	embryonic stem cell:	n/a	chr11:92930921-92930935 chr11:92930922-92930935 chr11:92930900-92930909 chr11:92930899-92930912 chr11:92931150-92931159 chr11:92930922-92930935 chr11:92930923-92930934 chr11:92930900-92930911 chr11:92930919-92930933 chr11:92930923-92930933 chr11:92930866-92930879 chr11:92930922-92930935 chr11:92930896-92930910
22	USF2	chr11:92929899-92930920	Hela-S3	cervix:	n/a	n/a
23	ATF1	chr11:92930464-92930811	K562	blood:	n/a	n/a
24	BCLAF1	chr11:92930350-92931001	GM12878	blood:	n/a	n/a
25	TAF1	chr11:92930375-92931198	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr11:92930339-92931224	K562	blood:	n/a	n/a
27	POLR2A	chr11:92930332-92930916	GM12891	blood:	n/a	n/a
28	MAX	chr11:92930162-92931804	NB4	blood:	n/a	chr11:92930901-92930910 chr11:92930897-92930907
29	STAT1	chr11:92930516-92931421	GM12878	blood:	n/a	chr11:92931196-92931208
30	POLR2A	chr11:92930248-92931555	HL-60	blood:	n/a	n/a
31	REST	chr11:92930595-92930770	K562	blood:	n/a	n/a
32	TCF12	chr11:92930525-92931201	GM12878	blood:	n/a	n/a
33	POLR2A	chr11:92930424-92931348	HCT-116	colon:	n/a	n/a
34	CREB1	chr11:92930412-92931259	A549	lung:	n/a	n/a
35	POLR2A	chr11:92930352-92931417	HCT-116	colon:	n/a	n/a
36	EGR1	chr11:92930542-92931129	K562	blood:	n/a	chr11:92930921-92930935 chr11:92930922-92930935 chr11:92930900-92930909 chr11:92930899-92930912 chr11:92930922-92930935 chr11:92930923-92930934 chr11:92930900-92930911 chr11:92930919-92930933 chr11:92930923-92930933 chr11:92930866-92930879 chr11:92930922-92930935 chr11:92930896-92930910
37	POLR2A	chr11:92929934-92931416	GM19099	blood:	n/a	n/a
38	ZNF143	chr11:92930030-92931741	GM12878	blood:	n/a	chr11:92931183-92931193 chr11:92931118-92931128 chr11:92930661-92930676
39	MAFK	chr11:92930273-92930837	K562	blood:	n/a	n/a
40	REST	chr11:92930516-92931962	SK-N-SH	brain:	n/a	chr11:92931581-92931601 chr11:92931403-92931412 chr11:92931589-92931599 chr11:92931587-92931601 chr11:92931581-92931601 chr11:92931581-92931601
41	GTF2B	chr11:92930540-92930843	K562	blood:	n/a	n/a
42	JUN	chr11:92930466-92930754	HepG2	liver:	n/a	chr11:92930592-92930601 chr11:92930621-92930632
43	USF2	chr11:92930405-92930888	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAX	chr11:92930257-92931571	HCT-116	colon:	n/a	chr11:92930901-92930910 chr11:92930897-92930907
45	FOXA1	chr11:92930483-92930828	T-47D	breast:	n/a	n/a
46	HEY1	chr11:92930404-92931295	HepG2	liver:	n/a	n/a
47	MAX	chr11:92930453-92931305	MCF-7	breast:	n/a	chr11:92930901-92930910 chr11:92930897-92930907
48	HDAC2	chr11:92930549-92930866	K562	blood:	n/a	n/a
49	POLR2A	chr11:92929905-92931487	H1-hESC	embryonic stem cell:	n/a	n/a
50	EGR1	chr11:92930600-92931097	K562	blood:	n/a	chr11:92930921-92930935 chr11:92930922-92930935 chr11:92930900-92930909 chr11:92930899-92930912 chr11:92930922-92930935 chr11:92930923-92930934 chr11:92930900-92930911 chr11:92930919-92930933 chr11:92930923-92930933 chr11:92930866-92930879 chr11:92930922-92930935 chr11:92930896-92930910

No.	Distal block	Cell Line	Cell type
1	chr11:92930510..92931167-chr7:75677293..75677907,2	NB4	blood:
2	chr11:92930328..92931259-chr17:73775093..73776047,2	Hela-S3	cervix:
3	chr11:92930280..92930897-chr13:21750350..21750876,2	NB4	blood:
4	chr1:9599460..9600393-chr11:92930413..92931236,2	NB4	blood:

Variant related genes	Relation type
SLC36A4	TF binding region
ENSG00000173141	Chromatin interaction
ENSG00000165480	Chromatin interaction
ENSG00000127952	Chromatin interaction
ENSG00000171612	Chromatin interaction
ENSG00000146701	Chromatin interaction
ENSG00000132475	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10830986	0.86[ASN][1000 genomes]
rs10830987	0.84[ASN][1000 genomes]
rs10830990	0.85[ASN][1000 genomes]
rs10830992	0.86[ASN][1000 genomes]
rs10830993	0.86[ASN][1000 genomes]
rs10830995	0.89[ASN][1000 genomes]
rs10830997	0.89[ASN][1000 genomes]
rs10830999	0.89[ASN][1000 genomes]
rs10831000	0.87[ASN][1000 genomes]
rs10831001	0.88[ASN][1000 genomes]
rs10831002	0.89[ASN][1000 genomes]
rs10831007	0.90[ASN][1000 genomes]
rs11020180	0.84[ASN][1000 genomes]
rs11020183	0.89[ASN][1000 genomes]
rs11020189	0.86[ASN][1000 genomes]
rs11020190	0.89[ASN][1000 genomes]
rs11020191	0.87[ASN][1000 genomes]
rs11020192	0.89[ASN][1000 genomes]
rs11020196	0.92[ASN][1000 genomes]
rs11020197	0.92[ASN][1000 genomes]
rs11020198	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11020199	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11020200	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11020204	0.81[ASN][1000 genomes]
rs11020206	0.86[ASN][1000 genomes]
rs11020207	0.84[ASN][1000 genomes]
rs11020208	0.88[ASN][1000 genomes]
rs12221889	0.84[ASN][1000 genomes]
rs12365990	0.87[ASN][1000 genomes]
rs1446916	0.81[ASN][1000 genomes]
rs16918625	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16918677	0.87[ASN][1000 genomes]
rs2121467	0.84[ASN][1000 genomes]
rs2399605	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3758676	0.86[ASN][1000 genomes]
rs3943572	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3957618	0.88[ASN][1000 genomes]
rs4753437	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4753438	0.88[ASN][1000 genomes]
rs4753439	0.90[ASN][1000 genomes]
rs58121936	0.88[ASN][1000 genomes]
rs66763553	0.81[ASN][1000 genomes]
rs67573258	0.84[ASN][1000 genomes]
rs7121033	0.87[ASN][1000 genomes]
rs7121713	0.88[ASN][1000 genomes]
rs7933585	0.92[ASN][1000 genomes]
rs7933922	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7936669	0.89[ASN][1000 genomes]
rs7936931	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs935447	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs935448	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039134	chr11:92790000-93219942	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv898176	chr11:92877533-92965312	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv898177	chr11:92877533-92971874	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv898178	chr11:92881933-92949447	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv898179	chr11:92881933-92956873	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv818858	chr11:92898342-92932229	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	esv2757465	chr11:92898342-92934137	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	esv2759853	chr11:92898342-92934137	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	esv2829957	chr11:92915544-92932229	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
10	esv33564	chr11:92918600-92936545	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2166583	ENSG00000180773	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:92928800-92931800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:92929800-92930800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr11:92929800-92930800	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr11:92929800-92931000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:92929800-92931400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:92929800-92931600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr11:92929800-92931600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:92929800-92931600	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr11:92929800-92931600	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr11:92929800-92931600	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr11:92929800-92931600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:92929800-92931600	Active TSS	Muscle Satellite Cultured Cells	--
13	chr11:92929800-92931600	Active TSS	Brain Anterior Caudate	brain
14	chr11:92929800-92931600	Active TSS	Brain Hippocampus Middle	brain
15	chr11:92929800-92931600	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr11:92929800-92931600	Active TSS	A549	lung
17	chr11:92929800-92931600	Active TSS	GM12878-XiMat	blood
18	chr11:92929800-92931800	Active TSS	H1 Cell Line	embryonic stem cell
19	chr11:92929800-92931800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:92929800-92931800	Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr11:92929800-92931800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:92929800-92931800	Active TSS	Brain Angular Gyrus	brain
23	chr11:92929800-92931800	Active TSS	Brain Germinal Matrix	brain
24	chr11:92929800-92931800	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr11:92929800-92931800	Active TSS	Fetal Lung	lung
26	chr11:92929800-92931800	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr11:92929800-92931800	Active TSS	Rectal Mucosa Donor 31	rectum
28	chr11:92929800-92931800	Active TSS	Thymus	Thymus
29	chr11:92929800-92932000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:92929800-92932000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:92929800-92932000	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr11:92929800-92932000	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr11:92929800-92932000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:92929800-92932000	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr11:92929800-92932000	Active TSS	NHLF	lung
36	chr11:92930000-92930800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:92930000-92930800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:92930000-92930800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr11:92930000-92931400	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr11:92930000-92931600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr11:92930000-92931600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:92930000-92931600	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr11:92930000-92931600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:92930000-92931600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr11:92930000-92931600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:92930000-92931600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:92930000-92931600	Active TSS	Fetal Muscle Trunk	muscle
48	chr11:92930000-92931600	Active TSS	Fetal Muscle Leg	muscle
49	chr11:92930000-92931600	Active TSS	Fetal Stomach	stomach
50	chr11:92930000-92931600	Active TSS	Fetal Thymus	thymus

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